{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T03:14:00Z","timestamp":1791688440886,"version":"4.3.4"},"reference-count":239,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T00:00:00Z","timestamp":1708646400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ricerca Corrente 2023","award":["GJC21131"],"award-info":[{"award-number":["GJC21131"]}]},{"name":"Ricerca Corrente 2023","award":["GSA21G006"],"award-info":[{"award-number":["GSA21G006"]}]},{"name":"Ricerca Corrente 2023","award":["GSA22B005"],"award-info":[{"award-number":["GSA22B005"]}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GJC21131"],"award-info":[{"award-number":["GJC21131"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GSA21G006"],"award-info":[{"award-number":["GSA21G006"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GSA22B005"],"award-info":[{"award-number":["GSA22B005"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"name":"A.I.Vi.P.S. ONLUS (Associazione Italiana Vivere la Paraparesi Spastica)","award":["GJC21131"],"award-info":[{"award-number":["GJC21131"]}]},{"name":"A.I.Vi.P.S. ONLUS (Associazione Italiana Vivere la Paraparesi Spastica)","award":["GSA21G006"],"award-info":[{"award-number":["GSA21G006"]}]},{"name":"A.I.Vi.P.S. ONLUS (Associazione Italiana Vivere la Paraparesi Spastica)","award":["GSA22B005"],"award-info":[{"award-number":["GSA22B005"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Hereditary spastic paraplegias (HSPs) comprise a family of degenerative diseases mostly hitting descending axons of corticospinal neurons. Depending on the gene and mutation involved, the disease could present as a pure form with limb spasticity, or a complex form associated with cerebellar and\/or cortical signs such as ataxia, dysarthria, epilepsy, and intellectual disability. The progressive nature of HSPs invariably leads patients to require walking canes or wheelchairs over time. Despite several attempts to ameliorate the life quality of patients that have been tested, current therapeutical approaches are just symptomatic, as no cure is available. Progress in research in the last two decades has identified a vast number of genes involved in HSP etiology, using cellular and animal models generated on purpose. Although unanimously considered invaluable tools for basic research, those systems are rarely predictive for the establishment of a therapeutic approach. The advent of induced pluripotent stem (iPS) cells allowed instead the direct study of morphological and molecular properties of the patient\u2019s affected neurons generated upon in vitro differentiation. In this review, we revisited all the present literature recently published regarding the use of iPS cells to differentiate HSP patient-specific neurons. Most studies have defined patient-derived neurons as a reliable model to faithfully mimic HSP in vitro, discovering original findings through immunological and \u2013omics approaches, and providing a platform to screen novel or repurposed drugs. Thereby, one of the biggest hopes of current HSP research regards the use of patient-derived iPS cells to expand basic knowledge on the disease, while simultaneously establishing new therapeutic treatments for both generalized and personalized approaches in daily medical practice.<\/jats:p>","DOI":"10.3390\/ijms25052615","type":"journal-article","created":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T10:47:30Z","timestamp":1708685250000},"page":"2615","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2962-6296","authenticated-orcid":false,"given":"Devid","family":"Damiani","sequence":"first","affiliation":[{"name":"Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7073-5545","authenticated-orcid":false,"given":"Matteo","family":"Baggiani","sequence":"additional","affiliation":[{"name":"Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Della Vecchia","sequence":"additional","affiliation":[{"name":"Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy"},{"name":"Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Viale Pieraccini, 6, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4941-635X","authenticated-orcid":false,"given":"Valentina","family":"Naef","sequence":"additional","affiliation":[{"name":"Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[{"name":"Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1590\/0004-282x20170160","article-title":"Hereditary Spastic Paraplegia from 1880 to 2017: An Historical Review","volume":"75","author":"Faber","year":"2017","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Elsayed, L.E.O., Eltazi, I.Z., Ahmed, A.E., and Stevanin, G. (2021). Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview. Front. Mol. Biosci., 8.","DOI":"10.3389\/fmolb.2021.690899"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/j.expneurol.2014.06.011","article-title":"Hereditary Spastic Paraplegia: Clinical-Genetic Characteristics and Evolving Molecular Mechanisms","volume":"261","author":"Lombardi","year":"2014","journal-title":"Exp. Neurol."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Meyyazhagan, A., and Orlacchio, A. (2022). Hereditary Spastic Paraplegia: An Update. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23031697"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/jhg.2013.139","article-title":"Molecular Epidemiology and Clinical Spectrum of Hereditary Spastic Paraplegia in the Japanese Population Based on Comprehensive Mutational Analyses","volume":"59","author":"Ishiura","year":"2014","journal-title":"J. Hum. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1001\/archneur.56.8.943","article-title":"Clinical Heterogeneity of Autosomal Recessive Spastic Paraplegias","volume":"56","author":"Coutinho","year":"1999","journal-title":"Arch. Neurol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1136\/jnnp.37.1.8","article-title":"Strumpell\u2019s Familial Spastic Paraplegia: Genetics and Neuropathology","volume":"37","author":"Behan","year":"1974","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/0303-8467(92)90010-Z","article-title":"The Neuropathology of Hereditary Spastic Paraparesis","volume":"94","author":"Bruyn","year":"1992","journal-title":"Clin. Neurol. Neurosurg."},{"key":"ref_9","first-page":"117","article-title":"Familial Spastic Paraplegia-Clinical and Pathologic Studies in a Large Kindred","volume":"143","author":"Sack","year":"1978","journal-title":"Johns. Hopkins Med. J."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1016\/S0140-6736(83)92879-9","article-title":"Classification of the Hereditary Ataxias and Paraplegias","volume":"1","author":"Harding","year":"1983","journal-title":"Lancet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1159\/000358801","article-title":"The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies","volume":"42","author":"Ruano","year":"2014","journal-title":"Neuroepidemiology"},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Riso, V., Rossi, S., Nicoletti, T., Tessa, A., Travaglini, L., Zanni, G., Aiello, C., Perna, A., Barghigiani, M., and Pomponi, M. (2021). Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience. Brain Sci., 11.","DOI":"10.3390\/brainsci11020246"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1007\/s11910-019-0930-2","article-title":"Update on the Genetics of Spastic Paraplegias","volume":"19","author":"Boutry","year":"2019","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"708642","DOI":"10.3389\/fnins.2021.708642","article-title":"Editorial: Hereditary Spastic Paraplegias: At the Crossroads of Molecular Pathways and Clinical Options","volume":"15","author":"Martinuzzi","year":"2021","journal-title":"Front. Neurosci."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Dahlem, T.J., Hoshijima, K., Jurynec, M.J., Gunther, D., Starker, C.G., Locke, A.S., Weis, A.M., Voytas, D.F., and Grunwald, D.J. (2012). Simple Methods for Generating and Detecting Locus-Specific Mutations Induced with TALENs in the Zebrafish Genome. PLoS Genet., 8.","DOI":"10.1371\/journal.pgen.1002861"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1038\/nbt.2501","article-title":"Efficient Genome Editing in Zebrafish Using a CRISPR-Cas System","volume":"31","author":"Hwang","year":"2013","journal-title":"Nat. Biotechnol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.pneurobio.2014.03.001","article-title":"Zebrafish Models of Human Motor Neuron Diseases: Advantages and Limitations","volume":"118","author":"Babin","year":"2014","journal-title":"Prog. Neurobiol."},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Genc, B., Gozutok, O., and Ozdinler, P.H. (2019). Complexity of Generating Mouse Models to Study the Upper Motor Neurons: Let Us Shift Focus from Mice to Neurons. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20163848"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1093\/hmg\/ddl054","article-title":"SPG3A Protein Atlastin-1 Is Enriched in Growth Cones and Promotes Axon Elongation during Neuronal Development","volume":"15","author":"Zhu","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.neures.2013.08.007","article-title":"Atlastin-1 Regulates Dendritic Morphogenesis in Mouse Cerebral Cortex","volume":"77","author":"Gao","year":"2013","journal-title":"Neurosci. Res."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"11020","DOI":"10.1038\/ncomms11020","article-title":"VCP and ATL1 Regulate Endoplasmic Reticulum and Protein Synthesis for Dendritic Spine Formation","volume":"7","author":"Shih","year":"2016","journal-title":"Nat. Commun."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1038\/nn.2662","article-title":"Zebrafish Atlastin Controls Motility and Spinal Motor Axon Architecture via Inhibition of the BMP Pathway","volume":"13","author":"Fassier","year":"2010","journal-title":"Nat. Neurosci."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"dev162701","DOI":"10.1242\/dev.162701","article-title":"BMP- and Neuropilin-1-Mediated Motor Axon Navigation Relies on Spastin Alternative Translation","volume":"145","author":"Jardin","year":"2018","journal-title":"Development"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.neurobiolaging.2006.09.004","article-title":"Loss of Spastic Paraplegia Gene Atlastin Induces Age-Dependent Death of Dopaminergic Neurons in Drosophila","volume":"29","author":"Lee","year":"2008","journal-title":"Neurobiol. Aging"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.ydbio.2009.03.019","article-title":"Drosophila Atlastin Regulates the Stability of Muscle Microtubules and Is Required for Synapse Development","volume":"330","author":"Lee","year":"2009","journal-title":"Dev. Biol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"3507","DOI":"10.1242\/jcs.201657","article-title":"Drosophila Atlastin in Motor Neurons Is Required for Locomotion and Presynaptic Function","volume":"130","author":"Delgado","year":"2017","journal-title":"J. Cell Sci."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"547746","DOI":"10.3389\/fnins.2020.547746","article-title":"In Vivo Analysis of CRISPR\/Cas9 Induced Atlastin Pathological Mutations in Drosophila","volume":"14","author":"Montagna","year":"2020","journal-title":"Front. Neurosci."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1038\/nature08280","article-title":"Homotypic Fusion of ER Membranes Requires the Dynamin-like GTPase Atlastin","volume":"460","author":"Orso","year":"2009","journal-title":"Nature"},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Bertin, F., Jara-Wilde, J., Auer, B., K\u00f6hler-Sol\u00eds, A., Gonz\u00e1lez-Silva, C., Thomas, U., and Sierralta, J. (2023). Drosophila Atlastin Regulates Synaptic Vesicle Mobilization Independent of Bone Morphogenetic Protein Signaling. Biol. Res., 56.","DOI":"10.1186\/s40659-023-00462-1"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"3544","DOI":"10.1093\/hmg\/ddl431","article-title":"A Mutation of Spastin Is Responsible for Swellings and Impairment of Transport in a Region of Axon Characterized by Changes in Microtubule Composition","volume":"15","author":"Tarrade","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1111\/j.1471-4159.2009.06104.x","article-title":"Direct Evidence for Axonal Transport Defects in a Novel Mouse Model of Mutant Spastin-induced Hereditary Spastic Paraplegia (HSP) and Human HSP Patients","volume":"110","author":"Kasher","year":"2009","journal-title":"J. Neurochem."},{"key":"ref_32","first-page":"72","article-title":"Microtubule-Targeting Drugs Rescue Axonal Swellings in Cortical Neurons from Spastin Knockout Mice","volume":"6","author":"Fassier","year":"2013","journal-title":"Dis. Model. Mech."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1844","DOI":"10.1093\/hmg\/ddab367","article-title":"Modeling Gain-of-Function and Loss-of-Function Components of SPAST-Based Hereditary Spastic Paraplegia Using Transgenic Mice","volume":"31","author":"Piermarini","year":"2022","journal-title":"Hum. Mol. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1091\/mbc.e07-09-0878","article-title":"The Microtubule-Severing Proteins Spastin and Katanin Participate Differently in the Formation of Axonal Branches","volume":"19","author":"Yu","year":"2008","journal-title":"Mol. Biol. Cell"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1856","DOI":"10.1523\/JNEUROSCI.3309-13.2014","article-title":"Pathogenic Mutation of Spastin Has Gain-of-Function Effects on Microtubule Dynamics","volume":"34","author":"Solowska","year":"2014","journal-title":"J. Neurosci."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1728","DOI":"10.1091\/mbc.e17-01-0047","article-title":"Truncating Mutations of SPAST Associated with Hereditary Spastic Paraplegia Indicate Greater Accumulation and Toxicity of the M1 Isoform of Spastin","volume":"28","author":"Solowska","year":"2017","journal-title":"Mol. Biol. Cell"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"2763","DOI":"10.1093\/hmg\/ddl212","article-title":"The Microtubule-Severing Protein Spastin Is Essential for Axon Outgrowth in the Zebrafish Embryo","volume":"15","author":"Wood","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1242\/dmm.004002","article-title":"Genetic and Chemical Modulation of Spastin-Dependent Axon Outgrowth in Zebrafish Embryos Indicates a Role for Impaired Microtubule Dynamics in Hereditary Spastic Paraplegia","volume":"3","author":"Butler","year":"2010","journal-title":"Dis. Model. Mech."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"2296","DOI":"10.1002\/jcb.24100","article-title":"Role of Spastin and Protrudin in Neurite Outgrowth","volume":"113","author":"Zhang","year":"2012","journal-title":"J. Cell Biochem."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1083\/jcb.201211045","article-title":"An ESCRT\u2013Spastin Interaction Promotes Fission of Recycling Tubules from the Endosome","volume":"202","author":"Allison","year":"2013","journal-title":"J. Cell Biol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1093\/hmg\/ddv632","article-title":"Conserved Pharmacological Rescue of Hereditary Spastic Paraplegia-Related Phenotypes across Model Organisms","volume":"25","author":"Julien","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"Arribat, Y., Grepper, D., Lagarrigue, S., Qi, T., Cohen, S., and Amati, F. (2020). Spastin Mutations Impair Coordination between Lipid Droplet Dispersion and Reticulum. PLoS Genet., 16.","DOI":"10.1371\/journal.pgen.1008665"},{"key":"ref_43","doi-asserted-by":"crossref","unstructured":"Sherwood, N.T., Sun, Q., Xue, M., Zhang, B., and Zinn, K. (2004). Drosophila Spastin Regulates Synaptic Microtubule Networks and Is Required for Normal Motor Function. PLoS Biol., 2.","DOI":"10.1371\/journal.pbio.0020429"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1016\/j.cub.2004.06.058","article-title":"The Hereditary Spastic Paraplegia Gene, Spastin, Regulates Microtubule Stability to Modulate Synaptic Structure and Function","volume":"14","author":"Trotta","year":"2004","journal-title":"Curr. Biol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"3026","DOI":"10.1172\/JCI24694","article-title":"Disease-Related Phenotypes in a Drosophila Model of Hereditary Spastic Paraplegia Are Ameliorated by Treatment with Vinblastine","volume":"115","author":"Orso","year":"2005","journal-title":"J. Clin. Investig."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"92","DOI":"10.3389\/fnins.2020.00912","article-title":"Suppression of Spastin Mutant Phenotypes by Pak3 Loss Implicates a Role for Reactive Glia in AD-HSP","volume":"14","author":"Ozdowski","year":"2020","journal-title":"Front. Neurosci."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1172\/JCI200420138","article-title":"Axonal Degeneration in Paraplegin-Deficient Mice Is Associated with Abnormal Mitochondria and Impairment of Axonal Transport","volume":"113","author":"Ferreirinha","year":"2004","journal-title":"J. Clin. Investig."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1172\/JCI26210","article-title":"Intramuscular Viral Delivery of Paraplegin Rescues Peripheral Axonopathy in a Model of Hereditary Spastic Paraplegia","volume":"116","author":"Pirozzi","year":"2006","journal-title":"J. Clin. Investig."},{"key":"ref_49","doi-asserted-by":"crossref","unstructured":"Sambri, I., Massa, F., Gullo, F., Meneghini, S., Cassina, L., Carraro, M., Dina, G., Quattrini, A., Patanella, L., and Carissimo, A. (2020). Impaired Flickering of the Permeability Transition Pore Causes SPG7 Spastic Paraplegia. EBioMedicine, 61.","DOI":"10.1016\/j.ebiom.2020.103050"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"2001","DOI":"10.1093\/hmg\/ddp124","article-title":"Genetic Interaction between the m -AAA Protease Isoenzymes Reveals Novel Roles in Cerebellar Degeneration","volume":"18","author":"Martinelli","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"4117","DOI":"10.1093\/brain\/awad136","article-title":"SARM1 Deletion Delays Cerebellar but Not Spinal Cord Degeneration in an Enhanced Mouse Model of SPG7 Deficiency","volume":"146","author":"Nolte","year":"2023","journal-title":"Brain"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1038\/s41419-018-0365-8","article-title":"Loss of the Drosophila M-AAA Mitochondrial Protease Paraplegin Results in Mitochondrial Dysfunction, Shortened Lifespan, and Neuronal and Muscular Degeneration","volume":"9","author":"Pareek","year":"2018","journal-title":"Cell Death Dis."},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Meljon, A., Crick, P.J., Yutuc, E., Yau, J.L., Seckl, J.R., Theofilopoulos, S., Arenas, E., Wang, Y., and Griffiths, W.J. (2019). Mining for Oxysterols in Cyp7b1\u2212\/\u2212 Mouse Brain and Plasma: Relevance to Spastic Paraplegia Type 5. Biomolecules, 9.","DOI":"10.3390\/biom9040149"},{"key":"ref_54","doi-asserted-by":"crossref","unstructured":"Goikolea, J., Latorre-Leal, M., Tsagkogianni, C., Pikkupeura, S., Gulyas, B., Cedazo-Minguez, A., Loera-Valencia, R., Bj\u00f6rkhem, I., Rodriguez Rodriguez, P., and Maioli, S. (2023). Different Effects of CYP27A1 and CYP7B1 on Cognitive Function: Two Mouse Models in Comparison. J. Steroid Biochem. Mol. Biol., 234.","DOI":"10.1016\/j.jsbmb.2023.106387"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"4859","DOI":"10.1093\/hmg\/ddu200","article-title":"Dysfunction of Spatacsin Leads to Axonal Pathology in SPG11-Linked Hereditary Spastic Paraplegia","volume":"23","author":"Mishra","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_56","doi-asserted-by":"crossref","unstructured":"Varga, R.-E., Khundadze, M., Damme, M., Nietzsche, S., Hoffmann, B., Stauber, T., Koch, N., Hennings, J.C., Franzka, P., and Huebner, A.K. (2015). In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11. PLoS Genet., 11.","DOI":"10.1371\/journal.pgen.1005454"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.nbd.2017.02.007","article-title":"Loss of Spatacsin Function Alters Lysosomal Lipid Clearance Leading to Upper and Lower Motor Neuron Degeneration","volume":"102","author":"Branchu","year":"2017","journal-title":"Neurobiol. Dis."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"3813","DOI":"10.1016\/j.celrep.2018.05.098","article-title":"Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides That Contribute to Neurodegeneration","volume":"23","author":"Boutry","year":"2018","journal-title":"Cell Rep."},{"key":"ref_59","doi-asserted-by":"crossref","unstructured":"Pierga, A., Matusiak, R., Cauhap\u00e9, M., Branchu, J., Danglot, L., Boutry, M., and Darios, F. (2023). Spatacsin Regulates Directionality of Lysosome Trafficking by Promoting the Degradation of Its Partner AP5Z1. PLoS Biol., 21.","DOI":"10.1371\/journal.pbio.3002337"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1007\/s10048-010-0243-8","article-title":"Novel SPG11 Mutations in Asian Kindreds and Disruption of Spatacsin Function in the Zebrafish","volume":"11","author":"Southgate","year":"2010","journal-title":"Neurogenetics"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/j.nbd.2012.07.003","article-title":"Spatacsin and Spastizin Act in the Same Pathway Required for Proper Spinal Motor Neuron Axon Outgrowth in Zebrafish","volume":"48","author":"Martin","year":"2012","journal-title":"Neurobiol. Dis."},{"key":"ref_62","doi-asserted-by":"crossref","unstructured":"Khundadze, M., Kollmann, K., Koch, N., Biskup, C., Nietzsche, S., Zimmer, G., Hennings, J.C., Huebner, A.K., Symmank, J., and Jahic, A. (2013). A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26\/SPASTIZIN for the Endolysosomal System. PLoS Genet., 9.","DOI":"10.1371\/journal.pgen.1003988"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"3690","DOI":"10.1080\/15548627.2021.1891848","article-title":"Mouse Models for Hereditary Spastic Paraplegia Uncover a Role of PI4K2A in Autophagic Lysosome Reformation","volume":"17","author":"Khundadze","year":"2021","journal-title":"Autophagy"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"2693","DOI":"10.1093\/hmg\/ddac063","article-title":"SPG15 Protein Deficits Are at the Crossroads between Lysosomal Abnormalities, Altered Lipid Metabolism and Synaptic Dysfunction","volume":"31","author":"Marrone","year":"2022","journal-title":"Hum. Mol. Genet."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1093\/brain\/awac308","article-title":"Rescue of Lysosomal Function as Therapeutic Strategy for SPG15 Hereditary Spastic Paraplegia","volume":"146","author":"Vantaggiato","year":"2023","journal-title":"Brain"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/j.nbd.2019.03.026","article-title":"A Mouse Model for SPG48 Reveals a Block of Autophagic Flux upon Disruption of Adaptor Protein Complex Five","volume":"127","author":"Khundadze","year":"2019","journal-title":"Neurobiol. Dis."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1016\/j.neuron.2008.02.012","article-title":"Accumulation of AMPA Receptors in Autophagosomes in Neuronal Axons Lacking Adaptor Protein AP-4","volume":"57","author":"Matsuda","year":"2008","journal-title":"Neuron"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"fcac335","DOI":"10.1093\/braincomms\/fcac335","article-title":"Ap4b1-Knockout Mouse Model of Hereditary Spastic Paraplegia Type 47 Displays Motor Dysfunction, Aberrant Brain Morphology and ATG9A Mislocalization","volume":"5","author":"Scarrott","year":"2022","journal-title":"Brain Commun."},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Pembridge, O.G., Wallace, N.S., Clements, T.P., and Jackson, L.P. (2023). AP-4 Loss in CRISPR-Edited Zebrafish Affects Early Embryo Development. Adv. Biol. Regul., 87.","DOI":"10.1016\/j.jbior.2022.100945"},{"key":"ref_70","doi-asserted-by":"crossref","unstructured":"De Pace, R., Skirzewski, M., Damme, M., Mattera, R., Mercurio, J., Foster, A.M., Cuitino, L., Jarnik, M., Hoffmann, V., and Morris, H.D. (2018). Altered Distribution of ATG9A and Accumulation of Axonal Aggregates in Neurons from a Mouse Model of AP-4 Deficiency Syndrome. PLoS Genet., 14.","DOI":"10.1371\/journal.pgen.1007363"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1080\/15548627.2019.1615302","article-title":"Axonal Autophagosome Maturation Defect through Failure of ATG9A Sorting Underpins Pathology in AP-4 Deficiency Syndrome","volume":"16","author":"Ivankovic","year":"2020","journal-title":"Autophagy"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1002\/acn3.51018","article-title":"Loss of Ap4s1 in Zebrafish Leads to Neurodevelopmental Defects Resembling Spastic Paraplegia 52","volume":"7","author":"Tessa","year":"2020","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1038\/ncb2225","article-title":"TFG-1 Function in Protein Secretion and Oncogenesis","volume":"13","author":"Witte","year":"2011","journal-title":"Nat. Cell Biol."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"13026","DOI":"10.1038\/s41598-017-13432-x","article-title":"Trk-Fused Gene (TFG) Regulates Pancreatic \u03b2 Cell Mass and Insulin Secretory Activity","volume":"7","author":"Yamamotoya","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"1966","DOI":"10.1038\/s41598-022-05884-7","article-title":"Involvement of Neuronal and Muscular Trk-Fused Gene (TFG) Defects in the Development of Neurodegenerative Diseases","volume":"12","author":"Yamamotoya","year":"2022","journal-title":"Sci. Rep."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1111\/cns.13943","article-title":"TFG Mutation Induces Haploinsufficiency and Drives Axonal Charcot\u2013Marie\u2013Tooth Disease by Causing Neurite Degeneration","volume":"28","author":"Chen","year":"2022","journal-title":"CNS Neurosci. Ther."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"e2210649119","DOI":"10.1073\/pnas.2210649119","article-title":"TFG Regulates Secretory and Endosomal Sorting Pathways in Neurons to Promote Their Activity and Maintenance","volume":"119","author":"Peotter","year":"2022","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1038\/nature07287","article-title":"An Intrinsic Mechanism of Corticogenesis from Embryonic Stem Cells","volume":"455","author":"Gaspard","year":"2008","journal-title":"Nature"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1038\/nn1402","article-title":"Directed Differentiation of Telencephalic Precursors from Embryonic Stem Cells","volume":"8","author":"Watanabe","year":"2005","journal-title":"Nat. Neurosci."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1242\/dev.144071","article-title":"Generation of Thalamic Neurons from Mouse Embryonic Stem Cells","volume":"144","author":"Shiraishi","year":"2017","journal-title":"Development"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1038\/nbt.2249","article-title":"Combined Small-Molecule Inhibition Accelerates Developmental Timing and Converts Human Pluripotent Stem Cells into Nociceptors","volume":"30","author":"Chambers","year":"2012","journal-title":"Nat. Biotechnol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"11796","DOI":"10.1073\/pnas.0803078105","article-title":"Minimization of Exogenous Signals in ES Cell Culture Induces Rostral Hypothalamic Differentiation","volume":"105","author":"Wataya","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"3369","DOI":"10.1038\/s41467-020-17165-w","article-title":"Pre-Clinical Study of Induced Pluripotent Stem Cell-Derived Dopaminergic Progenitor Cells for Parkinson\u2019s Disease","volume":"11","author":"Doi","year":"2020","journal-title":"Nat. Commun."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"3169","DOI":"10.1242\/jcs.050393","article-title":"In Vitro Differentiation of Retinal Cells from Human Pluripotent Stem Cells by Small-Molecule Induction","volume":"122","author":"Osakada","year":"2009","journal-title":"J. Cell Sci."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1038\/nature12517","article-title":"Cerebral Organoids Model Human Brain Development and Microcephaly","volume":"501","author":"Lancaster","year":"2013","journal-title":"Nature"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"20284","DOI":"10.1073\/pnas.1315710110","article-title":"Self-Organization of Axial Polarity, inside-out Layer Pattern, and Species-Specific Progenitor Dynamics in Human ES Cell\u2013Derived Neocortex","volume":"110","author":"Kadoshima","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"3081","DOI":"10.1038\/nprot.2007.418","article-title":"Induction of Pluripotent Stem Cells from Fibroblast Cultures","volume":"2","author":"Takahashi","year":"2007","journal-title":"Nat. Protoc."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"2094","DOI":"10.1002\/stem.754","article-title":"Brief Report: L1 Cell Adhesion Molecule, a Novel Surface Molecule of Human Embryonic Stem Cells, Is Essential for Self-Renewal and Pluripotency","volume":"29","author":"Son","year":"2011","journal-title":"Stem Cells"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"102663","DOI":"10.1016\/j.scr.2022.102663","article-title":"Establishment of Induced Pluripotent Stem Cell Line (ZZUi033-A) of a Male with a Novel L1CAM Missense Mutation","volume":"59","author":"Li","year":"2022","journal-title":"Stem Cell Res."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"5638","DOI":"10.1093\/hmg\/ddu280","article-title":"Pharmacologic Rescue of Axon Growth Defects in a Human IPSC Model of Hereditary Spastic Paraplegia SPG3A","volume":"23","author":"Zhu","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_91","doi-asserted-by":"crossref","unstructured":"Costamagna, D., Casters, V., Beltr\u00e0, M., Sampaolesi, M., Van Campenhout, A., Ortibus, E., Desloovere, K., and Duelen, R. (2022). Autologous IPSC-Derived Human Neuromuscular Junction to Model the Pathophysiology of Hereditary Spastic Paraplegia. Cells, 11.","DOI":"10.3390\/cells11213351"},{"key":"ref_92","first-page":"489","article-title":"A Patient-Derived Stem Cell Model of Hereditary Spastic Paraplegia with SPAST Mutations","volume":"6","author":"Abrahamsen","year":"2013","journal-title":"Dis. Model. Mech."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1002\/stem.1569","article-title":"Loss of Spastin Function Results in Disease-Specific Axonal Defects in Human Pluripotent Stem Cell-Based Models of Hereditary Spastic Paraplegia","volume":"32","author":"Denton","year":"2014","journal-title":"Stem Cells"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"2527","DOI":"10.1093\/hmg\/ddt644","article-title":"Gene Dosage-Dependent Rescue of HSP Neurite Defects in SPG4 Patients\u2019 Neurons","volume":"23","author":"Havlicek","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"27004","DOI":"10.1038\/srep27004","article-title":"Mechanism of Impaired Microtubule-Dependent Peroxisome Trafficking and Oxidative Stress in SPAST-Mutated Cells from Patients with Hereditary Spastic Paraplegia","volume":"6","author":"Wali","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/s13023-023-02666-w","article-title":"Chenodeoxycholic Acid Rescues Axonal Degeneration in Induced Pluripotent Stem Cell-Derived Neurons from Spastic Paraplegia Type 5 and Cerebrotendinous Xanthomatosis Patients","volume":"18","author":"Mou","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"820","DOI":"10.3389\/fnins.2020.00820","article-title":"Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells","volume":"14","author":"Wali","year":"2020","journal-title":"Front. Neurosci."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"103008","DOI":"10.1016\/j.scr.2022.103008","article-title":"Generation of an IPSC Line from a Patient with Spastic Paraplegia Type 10 Carrying a Novel Mutation in KIF5A Gene","volume":"66","author":"Santangelo","year":"2023","journal-title":"Stem Cell Res."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1002\/ana.24633","article-title":"GSK3\u00df-dependent Dysregulation of Neurodevelopment in SPG11-patient Induced Pluripotent Stem Cell Model","volume":"79","author":"Mishra","year":"2016","journal-title":"Ann. Neurol."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1093\/hmg\/ddy397","article-title":"Human SPG11 Cerebral Organoids Reveal Cortical Neurogenesis Impairment","volume":"28","author":"Buchsbaum","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"680572","DOI":"10.3389\/fnins.2021.680572","article-title":"Axon-Specific Mitochondrial Pathology in SPG11 Alpha Motor Neurons","volume":"15","author":"Pozner","year":"2021","journal-title":"Front. Neurosci."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"2517","DOI":"10.1093\/hmg\/ddy156","article-title":"Impaired Mitochondrial Dynamics Underlie Axonal Defects in Hereditary Spastic Paraplegias","volume":"27","author":"Denton","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"101727","DOI":"10.1016\/j.scr.2020.101727","article-title":"Generation of a Human Induced Pluripotent Stem Cell Line (SDUBMSi001-A) from a Hereditary Spastic Paraplegia Patient Carrying Kif1a c.773C>T Missense Mutation","volume":"43","author":"Wang","year":"2020","journal-title":"Stem Cell Res."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"102032","DOI":"10.1016\/j.scr.2020.102032","article-title":"Reprogramming of a Human Induced Pluripotent Stem Cell (IPSC) Line from a Patient with Neurodegeneration with Brain Iron Accumulation (NBIA) Harboring a Novel Frameshift Mutation in C19orf12 Gene","volume":"49","author":"Lin","year":"2020","journal-title":"Stem Cell Res."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1093\/hmg\/ddz310","article-title":"Adaptor Protein Complex 4 Deficiency: A Paradigm of Childhood-Onset Hereditary Spastic Paraplegia Caused by Defective Protein Trafficking","volume":"29","author":"Behne","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"102917","DOI":"10.1016\/j.scr.2022.102917","article-title":"Generation of IPSC Lines from Hereditary Spastic Paraplegia 56 (SPG56) Patients and Family Members Carrying CYP2U1 Mutations","volume":"64","author":"Leeson","year":"2022","journal-title":"Stem Cell Res."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"2248","DOI":"10.1016\/j.celrep.2018.07.081","article-title":"Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation","volume":"24","author":"Slosarek","year":"2018","journal-title":"Cell Rep."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"102059","DOI":"10.1016\/j.scr.2020.102059","article-title":"Generation of the CRISPR\/Cas9-Mediated KIF1C Knock-out Human IPSC Line HIHRSi003-A-1","volume":"49","author":"Nagel","year":"2020","journal-title":"Stem Cell Res."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1038\/s41467-019-09430-4","article-title":"USP8 Maintains Embryonic Stem Cell Stemness via Deubiquitination of EPG5","volume":"10","author":"Gu","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"101354","DOI":"10.1016\/j.scr.2018.11.015","article-title":"Generation of an Integration-Free Induced Pluripotent Stem Cell Line, FJMUi001-A, from a Hereditary Spastic Paraplegia Patient Carrying Compound Heterozygous p.P498L and p.R618W Mutations in CAPN1 (SPG76)","volume":"34","author":"Lu","year":"2019","journal-title":"Stem Cell Res."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"1600","DOI":"10.1001\/archneur.61.10.1600","article-title":"Novel Mutation in the SPG3A Gene in an African American Family with an Early Onset of Hereditary Spastic Paraplegia","volume":"61","author":"Hedera","year":"2004","journal-title":"Arch. Neurol."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S0022-510X(03)00210-7","article-title":"SPG3A Mutation Screening in English Families with Early Onset Autosomal Dominant Hereditary Spastic Paraplegia","volume":"216","author":"Wilkinson","year":"2003","journal-title":"J. Neurol. Sci."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1093\/hmg\/ddac182","article-title":"De Novo Variants Cause Complex Symptoms in HSP- ATL1 (SPG3A) and Uncover Genotype\u2013Phenotype Correlations","volume":"32","author":"Alecu","year":"2023","journal-title":"Hum. Mol. Genet."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.3389\/fneur.2018.01117","article-title":"Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives","volume":"9","author":"Vasconcellos","year":"2019","journal-title":"Front. Neurol."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1007\/s00415-011-5934-z","article-title":"Late-Onset Hereditary Spastic Paraplegia with Thin Corpus Callosum Caused by a New SPG3A Mutation","volume":"258","author":"Orlacchio","year":"2011","journal-title":"J. Neurol."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1111\/j.1471-4159.2009.06258.x","article-title":"Atlastin-1, the Dynamin-like GTPase Responsible for Spastic Paraplegia SPG3A, Remodels Lipid Membranes and May Form Tubules and Vesicles in the Endoplasmic Reticulum","volume":"110","author":"Muriel","year":"2009","journal-title":"J. Neurochem."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"1616","DOI":"10.1091\/mbc.E14-10-1447","article-title":"ER Network Formation and Membrane Fusion by Atlastin1\/SPG3A Disease Variants","volume":"26","author":"Ulengin","year":"2015","journal-title":"Mol. Biol. Cell"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"D439","DOI":"10.1093\/nar\/gkab1061","article-title":"AlphaFold Protein Structure Database: Massively Expanding the Structural Coverage of Protein-Sequence Space with High-Accuracy Models","volume":"50","author":"Varadi","year":"2022","journal-title":"Nucleic Acids Res."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","article-title":"Highly Accurate Protein Structure Prediction with AlphaFold","volume":"596","author":"Jumper","year":"2021","journal-title":"Nature"},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.mcn.2007.01.012","article-title":"Mutations in the SPG3A Gene Encoding the GTPase Atlastin Interfere with Vesicle Trafficking in the ER\/Golgi Interface and Golgi Morphogenesis","volume":"35","author":"Namekawa","year":"2007","journal-title":"Mol. Cell. Neurosci."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.scr.2018.09.006","article-title":"Rapid and Efficient Differentiation of Functional Motor Neurons from Human IPSC for Neural Injury Modelling","volume":"32","author":"Bianchi","year":"2018","journal-title":"Stem Cell Res."},{"key":"ref_122","doi-asserted-by":"crossref","unstructured":"Paranjape, S.R., Nagendran, T., Poole, V., Harris, J., and Taylor, A.M. (2019). Compartmentalization of Human Stem Cell-Derived Neurons within Pre-Assembled Plastic Microfluidic Chips. J. Vis. Exp., e59250.","DOI":"10.3791\/59250-v"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"3331","DOI":"10.1093\/brain\/awy285","article-title":"Spastic Paraplegia Due to SPAST Mutations Is Modified by the Underlying Mutation and Sex","volume":"141","author":"Parodi","year":"2018","journal-title":"Brain"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"1454","DOI":"10.1016\/j.clinph.2011.11.080","article-title":"Peripheral Neuropathy in Hereditary Spastic Paraplegia Due to Spastin (SPG4) Mutation\u2014A Neurophysiological Study Using Excitability Techniques","volume":"123","author":"Kumar","year":"2012","journal-title":"Clin. Neurophysiol."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1159\/000520433","article-title":"A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the SPAST Gene","volume":"13","author":"Akaba","year":"2021","journal-title":"Case Rep. Neurol."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1001\/archneur.61.6.849","article-title":"Hereditary Spastic Paraplegia: Clinical Genetic Study of 15 Families","volume":"61","author":"Orlacchio","year":"2004","journal-title":"Arch. Neurol."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1038\/15472","article-title":"Spastin, a New AAA Protein, Is Altered in the Most Frequent Form of Autosomal Dominant Spastic Paraplegia","volume":"23","author":"Hazan","year":"1999","journal-title":"Nat. Genet."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.yexcr.2005.06.009","article-title":"Spastin Subcellular Localization Is Regulated through Usage of Different Translation Start Sites and Active Export from the Nucleus","volume":"309","author":"Claudiani","year":"2005","journal-title":"Exp. Cell Res."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1093\/hmg\/11.2.153","article-title":"Spastin, the Protein Mutated in Autosomal Dominant Hereditary Spastic Paraplegia, Is Involved in Microtubule Dynamics","volume":"11","author":"Errico","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"2778","DOI":"10.1002\/jnr.21238","article-title":"Spastin and Microtubules: Functions in Health and Disease","volume":"85","author":"Salinas","year":"2007","journal-title":"J. Neurosci. Res."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"1926","DOI":"10.1212\/01.wnl.0000244413.49258.f5","article-title":"High Frequency of Partial SPAST Deletions in Autosomal Dominant Hereditary Spastic Paraplegia","volume":"67","author":"Beetz","year":"2006","journal-title":"Neurology"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.neuint.2014.02.007","article-title":"Revisiting the Neuropathogenesis of Zellweger Syndrome","volume":"69","author":"Crane","year":"2014","journal-title":"Neurochem. Int."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1194\/jlr.P071639","article-title":"Defective Cholesterol Metabolism in Amyotrophic Lateral Sclerosis","volume":"58","author":"Yutuc","year":"2017","journal-title":"J. Lipid Res."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1093\/brain\/awz382","article-title":"Lipid Metabolic Pathways Converge in Motor Neuron Degenerative Diseases","volume":"143","author":"Rickman","year":"2020","journal-title":"Brain"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1016\/j.ajhg.2007.10.001","article-title":"Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration","volume":"82","author":"Tsaousidou","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1093\/cercor\/bhy274","article-title":"27-Hydroxycholesterol Induces Aberrant Morphology and Synaptic Dysfunction in Hippocampal Neurons","volume":"29","author":"Ismail","year":"2019","journal-title":"Cereb. Cortex"},{"key":"ref_137","first-page":"238","article-title":"27-Hydroxycholesterol Alters Synaptic Structural and Functional Plasticity in Hippocampal Neuronal Cultures","volume":"78","author":"Wang","year":"2019","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1194\/jlr.M002543","article-title":"Marked Accumulation of 27-Hydroxycholesterol in SPG5 Patients with Hereditary Spastic Paresis","volume":"51","author":"Siddique","year":"2010","journal-title":"J. Lipid Res."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.nmd.2008.10.009","article-title":"White Matter Lesions in Spastic Paraplegia with Mutations in SPG5\/CYP7B1","volume":"19","author":"Biancheri","year":"2009","journal-title":"Neuromuscul. Disord."},{"key":"ref_140","doi-asserted-by":"crossref","unstructured":"Boisvert, E.M., Denton, K., Lei, L., and Li, X.-J. (2013). The Specification of Telencephalic Glutamatergic Neurons from Human Pluripotent Stem Cells. J. Vis. Exp., e50321.","DOI":"10.3791\/50321-v"},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"4055","DOI":"10.1242\/dev.036624","article-title":"Coordination of Sonic Hedgehog and Wnt Signaling Determines Ventral and Dorsal Telencephalic Neuron Types from Human Embryonic Stem Cells","volume":"136","author":"Li","year":"2009","journal-title":"Development"},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1006\/mgme.2000.3106","article-title":"Correlation of Farnesoid X Receptor Coactivator Recruitment and Cholesterol 7\u03b1-Hydroxylase Gene Repression by Bile Acids","volume":"71","author":"Bramlett","year":"2000","journal-title":"Mol. Genet. Metab."},{"key":"ref_143","first-page":"595","article-title":"The Effect of Chenodeoxycholic Acid Feeding on Bile Acid Kinetics and Fecal Neutral Steroid Excretion in Patients with Hyperlipoproteinemia Types II and IV","volume":"86","author":"Kallner","year":"1975","journal-title":"J. Lab. Clin. Med."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1017\/S1092852900000067","article-title":"Cerebrotendinous Xanthomatosis Presenting with Severe Externalized Disorder: Improvement after One Year of Treatment with Chenodeoxycholic Acid","volume":"15","author":"Bonnot","year":"2010","journal-title":"CNS Spectr."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1007\/s10545-014-9695-6","article-title":"Liver Disease in Infancy Caused by Oxysterol 7\u03b1-hydroxylase Deficiency: Successful Treatment with Chenodeoxycholic Acid","volume":"37","author":"Dai","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1002\/ana.24611","article-title":"Hereditary Spastic Paraplegia: Clinicogenetic Lessons from 608 Patients","volume":"79","author":"Wiethoff","year":"2016","journal-title":"Ann. Neurol."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/S0092-8674(00)81203-9","article-title":"Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease","volume":"93","author":"Casari","year":"1998","journal-title":"Cell"},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1086\/301930","article-title":"A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3","volume":"63","author":"Cavalcanti","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1212\/WNL.56.4.467","article-title":"Paraplegin Gene Analysis in Hereditary Spastic Paraparesis (HSP) Pedigrees in Northeast England","volume":"56","author":"McDermott","year":"2001","journal-title":"Neurology"},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/mds.22949","article-title":"A Novel Splice Site Mutation in the SPG7 Gene Causing Widespread Fiber Damage in Homozygous and Heterozygous Subjects","volume":"25","author":"Warnecke","year":"2010","journal-title":"Mov. Disord."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1007\/s00415-008-0858-y","article-title":"Hereditary Spastic Paraplegia Caused by the Novel Mutation 1047insC in the SPG7 Gene","volume":"255","author":"Tzoulis","year":"2008","journal-title":"J. Neurol."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1212\/01.wnl.0000266667.91074.fe","article-title":"A Novel Form of Autosomal Recessive Hereditary Spastic Paraplegia Caused by a New SPG7 Mutation","volume":"69","author":"Warnecke","year":"2007","journal-title":"Neurology"},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.cell.2005.08.003","article-title":"The M-AAA Protease Defective in Hereditary Spastic Paraplegia Controls Ribosome Assembly in Mitochondria","volume":"123","author":"Nolden","year":"2005","journal-title":"Cell"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1042\/bj3180401","article-title":"Altered Mitochondrial Function in Fibroblasts Containing MELAS or MERRF Mitochondrial DNA Mutations","volume":"318","author":"James","year":"1996","journal-title":"Biochem. J."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"1231584","DOI":"10.3389\/fnins.2023.1231584","article-title":"Pharmacological Rescue of Mitochondrial and Neuronal Defects in SPG7 Hereditary Spastic Paraplegia Patient Neurons Using High Throughput Assays","volume":"17","author":"Wali","year":"2023","journal-title":"Front. Neurosci."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/nbt.1529","article-title":"Highly Efficient Neural Conversion of Human ES and IPS Cells by Dual Inhibition of SMAD Signaling","volume":"27","author":"Chambers","year":"2009","journal-title":"Nat. Biotechnol."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1016\/j.stem.2013.04.008","article-title":"Directed Differentiation and Functional Maturation of Cortical Interneurons from Human Embryonic Stem Cells","volume":"12","author":"Maroof","year":"2013","journal-title":"Cell Stem Cell"},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"1775","DOI":"10.1158\/0008-5472.CAN-05-3476","article-title":"The Immunomodulatory Benzodiazepine Bz-423 Inhibits B-Cell Proliferation by Targeting c-Myc Protein for Rapid and Specific Degradation","volume":"66","author":"Sundberg","year":"2006","journal-title":"Cancer Res."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.ajhg.2012.07.014","article-title":"The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement","volume":"91","author":"Ishiura","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"5091","DOI":"10.1073\/pnas.1217197110","article-title":"Inhibition of TFG Function Causes Hereditary Axon Degeneration by Impairing Endoplasmic Reticulum Structure","volume":"110","author":"Beetz","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.5692\/clinicalneurol.53.1199","article-title":"Pathomechanisms of Motor Neuron Death by Mutant TFG","volume":"53","author":"Kawarai","year":"2013","journal-title":"Rinsho Shinkeigaku"},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1093\/jnen\/nlw009","article-title":"TFG-Related Neurologic Disorders: New Insights into Relationships between Endoplasmic Reticulum and Neurodegeneration","volume":"75","author":"Yagi","year":"2016","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"811","DOI":"10.15252\/embj.201489032","article-title":"TFG Clusters COPII-coated Transport Carriers and Promotes Early Secretory Pathway Organization","volume":"34","author":"Johnson","year":"2015","journal-title":"EMBO J."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1002\/humu.23060","article-title":"Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia","volume":"37","author":"Harlalka","year":"2016","journal-title":"Hum. Mutat."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/978-1-4614-8090-7_14","article-title":"Neural Cell Adhesion Molecules Belonging to the Family of Leucine-Rich Repeat Proteins","volume":"8","author":"Winther","year":"2014","journal-title":"Adv. Neurobiol."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/ng0794-402","article-title":"X\u2013Linked Spastic Paraplegia (SPG1), MASA Syndrome and X\u2013Linked Hydrocephalus Result from Mutations in the L1 Gene","volume":"7","author":"Jouet","year":"1994","journal-title":"Nat. Genet."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1038\/ng1092-107","article-title":"Aberrant Splicing of Neural Cell Adhesion Molecule L1 MRNA in a Family with X-Linked Hydrocephalus","volume":"2","author":"Rosenthal","year":"1992","journal-title":"Nat. Genet."},{"key":"ref_168","unstructured":"Stumpel, C., and Vos, Y.J. (1993). L1 Syndrome, University of Washington."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1136\/jmg.2009.071688","article-title":"Genotype-Phenotype Correlations in L1 Syndrome: A Guide for Genetic Counselling and Mutation Analysis","volume":"47","author":"Vos","year":"2010","journal-title":"J. Med. Genet."},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/humu.1144","article-title":"Genetic and Clinical Aspects of X-Linked Hydrocephalus (L1 Disease): Mutations in the L1CAM Gene","volume":"18","author":"Weller","year":"2001","journal-title":"Hum. Mutat."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1093\/brain\/awm293","article-title":"Mutations in SPG11 Are Frequent in Autosomal Recessive Spastic Paraplegia with Thin Corpus Callosum, Cognitive Decline and Lower Motor Neuron Degeneration","volume":"131","author":"Stevanin","year":"2008","journal-title":"Brain"},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1093\/brain\/awu121","article-title":"Overlapping Phenotypes in Complex Spastic Paraplegias SPG11, SPG15, SPG35 and SPG48","volume":"137","author":"Pensato","year":"2014","journal-title":"Brain"},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1002\/ana.21310","article-title":"Long-term Course and Mutational Spectrum of Spatacsin-linked Spastic Paraplegia","volume":"62","author":"Hehr","year":"2007","journal-title":"Ann. Neurol."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1136\/jmg.2008.063321","article-title":"Point Mutations and a Large Intragenic Deletion in SPG11 in Complicated Spastic Paraplegia without Thin Corpus Callosum","volume":"46","author":"Crimella","year":"2009","journal-title":"J. Med. Genet."},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"5249","DOI":"10.1172\/JCI77598","article-title":"Spastic Paraplegia Proteins Spastizin and Spatacsin Mediate Autophagic Lysosome Reformation","volume":"124","author":"Chang","year":"2014","journal-title":"J. Clin. Investig."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1002\/acn3.64","article-title":"Lysosomal Abnormalities in Hereditary Spastic Paraplegia Types SPG15 and SPG11","volume":"1","author":"Chang","year":"2014","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"914","DOI":"10.3389\/fnins.2018.00914","article-title":"Tideglusib Rescues Neurite Pathology of SPG11 IPSC Derived Cortical Neurons","volume":"12","author":"Pozner","year":"2018","journal-title":"Front. Neurosci."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1016\/j.ajhg.2008.03.004","article-title":"Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome","volume":"82","author":"Hanein","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1212\/WNL.0b013e3181bacf59","article-title":"SPG15 Is the Second Most Common Cause of Hereditary Spastic Paraplegia with Thin Corpus Callosum","volume":"73","author":"Goizet","year":"2009","journal-title":"Neurology"},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"199","DOI":"10.3174\/ajnr.A5935","article-title":"\u201cEars of the Lynx\u201d MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia","volume":"40","author":"Pascual","year":"2019","journal-title":"Am. J. Neuroradiol."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"3119","DOI":"10.1093\/brain\/awt227","article-title":"Defective Autophagy in Spastizin Mutated Patients with Hereditary Spastic Paraparesis Type 15","volume":"136","author":"Vantaggiato","year":"2013","journal-title":"Brain"},{"key":"ref_182","doi-asserted-by":"crossref","unstructured":"S\u0142abicki, M., Theis, M., Krastev, D.B., Samsonov, S., Mundwiller, E., Junqueira, M., Paszkowski-Rogacz, M., Teyra, J., Heninger, A.-K., and Poser, I. (2010). A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia. PLoS Biol., 8.","DOI":"10.1371\/journal.pbio.1000408"},{"key":"ref_183","doi-asserted-by":"crossref","unstructured":"Hirst, J., Barlow, L.D., Francisco, G.C., Sahlender, D.A., Seaman, M.N.J., Dacks, J.B., and Robinson, M.S. (2011). The Fifth Adaptor Protein Complex. PLoS Biol., 9.","DOI":"10.1371\/journal.pbio.1001170"},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"4984","DOI":"10.1093\/hmg\/ddv220","article-title":"Loss of AP-5 Results in Accumulation of Aberrant Endolysosomes: Defining a New Type of Lysosomal Storage Disease","volume":"24","author":"Hirst","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/BF00441150","article-title":"Ultrastructural Pathology of Human Lymphocytes in Lysosomal Disorders: A Contribution to Their Morphological Diagnosis","volume":"138","author":"Ikeda","year":"1982","journal-title":"Eur. J. Pediatr."},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1111\/j.1750-3639.1998.tb00144.x","article-title":"Cellular Pathology of Lysosomal Storage Disorders","volume":"8","author":"Walkley","year":"1998","journal-title":"Brain Pathol."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1152\/physiol.00041.2009","article-title":"Lysosomal Storage Disease: Revealing Lysosomal Function and Physiology","volume":"25","author":"Shandala","year":"2010","journal-title":"Physiology"},{"key":"ref_188","doi-asserted-by":"crossref","unstructured":"Zeng, H., Guo, M., Martins-Taylor, K., Wang, X., Zhang, Z., Park, J.W., Zhan, S., Kronenberg, M.S., Lichtler, A., and Liu, H.-X. (2010). Specification of Region-Specific Neurons Including Forebrain Glutamatergic Neurons from Human Induced Pluripotent Stem Cells. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0011853"},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1038\/nbt1063","article-title":"Specification of Motoneurons from Human Embryonic Stem Cells","volume":"23","author":"Li","year":"2005","journal-title":"Nat. Biotechnol."},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.1002\/stem.1152","article-title":"Specification of Midbrain Dopamine Neurons from Primate Pluripotent Stem Cells","volume":"30","author":"Xi","year":"2012","journal-title":"Stem Cells"},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/j.mcn.2011.04.004","article-title":"Cellular Distribution and Subcellular Localization of Spatacsin and Spastizin, Two Proteins Involved in Hereditary Spastic Paraplegia","volume":"47","author":"Murmu","year":"2011","journal-title":"Mol. Cell. Neurosci."},{"key":"ref_192","first-page":"e2704","article-title":"Determination of Mitochondrial Membrane Potential and Reactive Oxygen Species in Live Rat Cortical Neurons","volume":"51","author":"Joshi","year":"2011","journal-title":"J. Vis. Exp."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1038\/sj.cdd.4401231","article-title":"Mitochondrial Membrane Potential Regulates Matrix Configuration and Cytochrome c Release during Apoptosis","volume":"10","author":"Gottlieb","year":"2003","journal-title":"Cell Death Differ."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"11740","DOI":"10.1074\/jbc.M109.066662","article-title":"Perturbations in Mitochondrial Dynamics Induced by Human Mutant PINK1 Can Be Rescued by the Mitochondrial Division Inhibitor Mdivi-1","volume":"285","author":"Cui","year":"2010","journal-title":"J. Biol. Chem."},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"2787","DOI":"10.1091\/mbc.10.8.2787","article-title":"Characterization of a Fourth Adaptor-Related Protein Complex","volume":"10","author":"Hirst","year":"1999","journal-title":"Mol. Biol. Cell"},{"key":"ref_196","first-page":"2929","article-title":"Defining the Clinical, Molecular and Imaging Spectrum of Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia","volume":"143","author":"Teinert","year":"2020","journal-title":"Brain"},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1111\/tra.12028","article-title":"Adaptor Protein Complexes AP-4 and AP-5: New Players in Endosomal Trafficking and Progressive Spastic Paraplegia","volume":"14","author":"Hirst","year":"2013","journal-title":"Traffic"},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"E10697","DOI":"10.1073\/pnas.1717327114","article-title":"AP-4 Mediates Export of ATG9A from the Trans.-Golgi Network to Promote Autophagosome Formation","volume":"114","author":"Mattera","year":"2017","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"3958","DOI":"10.1038\/s41467-018-06172-7","article-title":"AP-4 Vesicles Contribute to Spatial Control of Autophagy via RUSC-Dependent Peripheral Delivery of ATG9A","volume":"9","author":"Davies","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1016\/j.neuron.2013.05.029","article-title":"Rapid Single-Step Induction of Functional Neurons from Human Pluripotent Stem Cells","volume":"78","author":"Zhang","year":"2013","journal-title":"Neuron"},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1038\/s41467-022-28609-w","article-title":"AP-4-Mediated Axonal Transport Controls Endocannabinoid Production in Neurons","volume":"13","author":"Davies","year":"2022","journal-title":"Nat. Commun."},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1083\/jcb.200305129","article-title":"Cloning of the First Sn1-DAG Lipases Points to the Spatial and Temporal Regulation of Endocannabinoid Signaling in the Brain","volume":"163","author":"Bisogno","year":"2003","journal-title":"J. Cell Biol."},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1083\/jcb.200210164","article-title":"The FGF Receptor Uses the Endocannabinoid Signaling System to Couple to an Axonal Growth Response","volume":"160","author":"Williams","year":"2003","journal-title":"J. Cell Biol."},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"8760","DOI":"10.1073\/pnas.0803545105","article-title":"Endocannabinoid Signaling Controls Pyramidal Cell Specification and Long-Range Axon Patterning","volume":"105","author":"Mulder","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"1634","DOI":"10.1111\/j.1460-9568.2011.07831.x","article-title":"DAGL-dependent Endocannabinoid Signalling: Roles in Axonal Pathfinding, Synaptic Plasticity and Adult Neurogenesis","volume":"34","author":"Oudin","year":"2011","journal-title":"Eur. J. Neurosci."},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1016\/j.chembiol.2007.11.006","article-title":"A Comprehensive Profile of Brain Enzymes That Hydrolyze the Endocannabinoid 2-Arachidonoylglycerol","volume":"14","author":"Blankman","year":"2007","journal-title":"Chem. Biol."},{"key":"ref_207","doi-asserted-by":"crossref","unstructured":"Edmison, D., Wang, L., and Gowrishankar, S. (2021). Lysosome Function and Dysfunction in Hereditary Spastic Paraplegias. Brain Sci., 11.","DOI":"10.3390\/brainsci11020152"},{"key":"ref_208","doi-asserted-by":"crossref","unstructured":"Fernandopulle, M.S., Prestil, R., Grunseich, C., Wang, C., Gan, L., and Ward, M.E. (2018). Transcription Factor\u2013Mediated Differentiation of Human IPSCs into Neurons. Curr. Protoc. Cell Biol., 79.","DOI":"10.1002\/cpcb.51"},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.neuron.2019.07.014","article-title":"CRISPR Interference-Based Platform for Multimodal Genetic Screens in Human IPSC-Derived Neurons","volume":"104","author":"Tian","year":"2019","journal-title":"Neuron"},{"key":"ref_210","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1016\/j.stemcr.2017.08.019","article-title":"Scalable Production of IPSC-Derived Human Neurons to Identify Tau-Lowering Compounds by High-Content Screening","volume":"9","author":"Wang","year":"2017","journal-title":"Stem Cell Rep."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.bbamcr.2008.10.016","article-title":"Sorting of Lysosomal Proteins","volume":"1793","author":"Braulke","year":"2009","journal-title":"Biochim. Biophys. Acta (BBA)-Mol. Cell Res."},{"key":"ref_212","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1186\/1750-1326-5-52","article-title":"A Hereditary Spastic Paraplegia Mutation in Kinesin-1A\/KIF5A Disrupts Neurofilament Transport","volume":"5","author":"Wang","year":"2010","journal-title":"Mol. Neurodegener."},{"key":"ref_213","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/0092-8674(95)90538-3","article-title":"The Neuron-Specific Kinesin Superfamily Protein KIF1A Is a Uniqye Monomeric Motor for Anterograde Axonal Transport of Synaptic Vesicle Precursors","volume":"81","author":"Okada","year":"1995","journal-title":"Cell"},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1083\/jcb.141.2.431","article-title":"Defect in Synaptic Vesicle Precursor Transport and Neuronal Cell Death in KIF1A Motor Protein\u2013Deficient Mice","volume":"141","author":"Yonekawa","year":"1998","journal-title":"J. Cell Biol."},{"key":"ref_215","doi-asserted-by":"crossref","first-page":"2345","DOI":"10.1007\/s00415-023-11589-2","article-title":"Correction to: Monoallelic KIF1A-Related Disorders: A Multicenter Cross Sectional Study and Systematic Literature Review","volume":"270","author":"Tessa","year":"2023","journal-title":"J. Neurol."},{"key":"ref_216","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1016\/j.ajhg.2012.11.001","article-title":"Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia","volume":"91","author":"Tesson","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"ref_217","doi-asserted-by":"crossref","first-page":"e20210846","DOI":"10.1084\/jem.20210846","article-title":"Implication of Folate Deficiency in CYP2U1 Loss of Function","volume":"218","author":"Pujol","year":"2021","journal-title":"J. Exp. Med."},{"key":"ref_218","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1016\/j.ajhg.2020.06.015","article-title":"Bi-Allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia","volume":"107","author":"Husain","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"ref_219","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1038\/s41436-020-01010-y","article-title":"Biallelic Variants in HPDL, Encoding 4-Hydroxyphenylpyruvate Dioxygenase-like Protein, Lead to an Infantile Neurodegenerative Condition","volume":"23","author":"Ghosh","year":"2021","journal-title":"Genet. Med."},{"key":"ref_220","doi-asserted-by":"crossref","first-page":"e70","DOI":"10.1093\/brain\/awab193","article-title":"Erratum to: Biallelic Variants in HPDL Cause Pure and Complicated Hereditary Spastic Paraplegia","volume":"144","author":"Wiessner","year":"2021","journal-title":"Brain"},{"key":"ref_221","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1038\/s41586-021-03865-w","article-title":"The Polar Oxy-Metabolome Reveals the 4-Hydroxymandelate CoQ10 Synthesis Pathway","volume":"597","author":"Banh","year":"2021","journal-title":"Nature"},{"key":"ref_222","doi-asserted-by":"crossref","first-page":"2062","DOI":"10.1038\/s41596-018-0032-7","article-title":"Generation and Assembly of Human Brain Region\u2013Specific Three-Dimensional Cultures","volume":"13","author":"Sloan","year":"2018","journal-title":"Nat. Protoc."},{"key":"ref_223","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1016\/j.cell.2020.11.017","article-title":"Generation of Functional Human 3D Cortico-Motor Assembloids","volume":"183","author":"Andersen","year":"2020","journal-title":"Cell"},{"key":"ref_224","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/nm.4397","article-title":"Microglia Emerge as Central Players in Brain Disease","volume":"23","author":"Salter","year":"2017","journal-title":"Nat. Med."},{"key":"ref_225","doi-asserted-by":"crossref","first-page":"e48070","DOI":"10.15252\/embr.201948070","article-title":"Emerging Links between Cerebrovascular and Neurodegenerative Diseases\u2014A Special Role for Pericytes","volume":"20","author":"Lendahl","year":"2019","journal-title":"EMBO Rep."},{"key":"ref_226","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1002\/stem.3368","article-title":"Vascularization of Human Brain Organoids","volume":"39","author":"Matsui","year":"2021","journal-title":"Stem Cells"},{"key":"ref_227","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/s41380-022-01892-1","article-title":"Microglia-Containing Human Brain Organoids for the Study of Brain Development and Pathology","volume":"28","author":"Zhang","year":"2023","journal-title":"Mol. Psychiatry"},{"key":"ref_228","doi-asserted-by":"crossref","first-page":"5420","DOI":"10.1074\/jbc.TM117.000832","article-title":"Metabolism in Pluripotency: Both Driver and Passenger?","volume":"294","author":"Dahan","year":"2019","journal-title":"J. Biol. Chem."},{"key":"ref_229","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.stem.2013.07.001","article-title":"Genetic and Epigenetic Variations in IPSCs: Potential Causes and Implications for Application","volume":"13","author":"Liang","year":"2013","journal-title":"Cell Stem Cell"},{"key":"ref_230","doi-asserted-by":"crossref","first-page":"dmm042317","DOI":"10.1242\/dmm.042317","article-title":"Addressing Variability in IPSC-Derived Models of Human Disease: Guidelines to Promote Reproducibility","volume":"13","author":"Volpato","year":"2020","journal-title":"Dis. Model. Mech."},{"key":"ref_231","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1007\/s12015-015-9600-1","article-title":"Generation of Isogenic Human IPS Cell Line Precisely Corrected by Genome Editing Using the CRISPR\/Cas9 System","volume":"11","author":"Grobarczyk","year":"2015","journal-title":"Stem Cell Rev. Rep."},{"key":"ref_232","doi-asserted-by":"crossref","first-page":"e79208","DOI":"10.7554\/eLife.79208","article-title":"Highly Efficient Generation of Isogenic Pluripotent Stem Cell Models Using Prime Editing","volume":"11","author":"Li","year":"2022","journal-title":"eLife"},{"key":"ref_233","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1016\/j.stemcr.2019.08.014","article-title":"Base-Resolution Methylome of Retinal Pigment Epithelial Cells Used in the First Trial of Human Induced Pluripotent Stem Cell-Based Autologous Transplantation","volume":"13","author":"Araki","year":"2019","journal-title":"Stem Cell Rep."},{"key":"ref_234","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1016\/j.stem.2021.01.013","article-title":"Clinical Trial for Parkinson\u2019s Disease Gets a Green Light in the US","volume":"28","author":"Takahashi","year":"2021","journal-title":"Cell Stem Cell"},{"key":"ref_235","doi-asserted-by":"crossref","first-page":"e15315","DOI":"10.15252\/emmm.202115315","article-title":"Development of Allogeneic iPS Cell-based Therapy: From Bench to Bedside","volume":"15","author":"McKenna","year":"2023","journal-title":"EMBO Mol. Med."},{"key":"ref_236","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1093\/hmg\/ddv637","article-title":"Assessing Similarity to Primary Tissue and Cortical Layer Identity in Induced Pluripotent Stem Cell-Derived Cortical Neurons through Single-Cell Transcriptomics","volume":"25","author":"Handel","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_237","doi-asserted-by":"crossref","unstructured":"Logan, S., Arzua, T., Yan, Y., Jiang, C., Liu, X., Yu, L.-K., Liu, Q.-S., and Bai, X. (2020). Dynamic Characterization of Structural, Molecular, and Electrophysiological Phenotypes of Human-Induced Pluripotent Stem Cell-Derived Cerebral Organoids, and Comparison with Fetal and Adult Gene Profiles. Cells, 9.","DOI":"10.3390\/cells9051301"},{"key":"ref_238","doi-asserted-by":"crossref","unstructured":"Vadodaria, K.C., Jones, J.R., Linker, S., and Gage, F.H. (2020). Modeling Brain Disorders Using Induced Pluripotent Stem Cells. Cold Spring Harb. Perspect. Biol., 12.","DOI":"10.1101\/cshperspect.a035659"},{"key":"ref_239","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1016\/j.stem.2023.04.011","article-title":"Human Pluripotent-Stem-Cell-Derived Organoids for Drug Discovery and Evaluation","volume":"30","author":"Vandana","year":"2023","journal-title":"Cell Stem Cell"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/5\/2615\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:03:53Z","timestamp":1760105033000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/5\/2615"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,23]]},"references-count":239,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,3]]}},"alternative-id":["ijms25052615"],"URL":"https:\/\/doi.org\/10.3390\/ijms25052615","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,23]]}}}