{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T22:52:58Z","timestamp":1787784778307,"version":"build-2784847793"},"reference-count":89,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2023,11,25]],"date-time":"2023-11-25T00:00:00Z","timestamp":1700870400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","award":["075-15-2021-1063"],"award-info":[{"award-number":["075-15-2021-1063"]}],"id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","award":["FWNR-2022-0019"],"award-info":[{"award-number":["FWNR-2022-0019"]}],"id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Confocal microscopy and TEM were performed at the Center of Collective Use for Microscopic Analysis of Biological Objects (ICG SB RAS, Novosibirsk, Russia)","award":["075-15-2021-1063"],"award-info":[{"award-number":["075-15-2021-1063"]}]},{"name":"Confocal microscopy and TEM were performed at the Center of Collective Use for Microscopic Analysis of Biological Objects (ICG SB RAS, Novosibirsk, Russia)","award":["FWNR-2022-0019"],"award-info":[{"award-number":["FWNR-2022-0019"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Cohen syndrome is an autosomal recessive disorder caused by VPS13B (COH1) gene mutations. This syndrome is significantly underdiagnosed and is characterized by intellectual disability, microcephaly, autistic symptoms, hypotension, myopia, retinal dystrophy, neutropenia, and obesity. VPS13B regulates intracellular membrane transport and supports the Golgi apparatus structure, which is critical for neuron formation. We generated induced pluripotent stem cells from two patients with pronounced manifestations of Cohen syndrome and differentiated them into neural stem cells and neurons. Using transmission electron microscopy, we documented multiple new ultrastructural changes associated with Cohen syndrome in the neuronal cells. We discovered considerable disturbances in the structure of some organelles: Golgi apparatus fragmentation and swelling, endoplasmic reticulum structural reorganization, mitochondrial defects, and the accumulation of large autophagosomes with undigested contents. These abnormalities underline the ultrastructural similarity of Cohen syndrome to many neurodegenerative diseases. The cell models that we developed based on patient-specific induced pluripotent stem cells can serve to uncover not only neurodegenerative processes, but the causes of intellectual disability in general.<\/jats:p>","DOI":"10.3390\/cells12232702","type":"journal-article","created":{"date-parts":[[2023,11,27]],"date-time":"2023-11-27T03:33:56Z","timestamp":1701056036000},"page":"2702","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients"],"prefix":"10.3390","volume":"12","author":[{"given":"Tatiana A.","family":"Shnaider","sequence":"first","affiliation":[{"name":"Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna A.","family":"Khabarova","sequence":"additional","affiliation":[{"name":"Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3307-8819","authenticated-orcid":false,"given":"Ksenia N.","family":"Morozova","sequence":"additional","affiliation":[{"name":"Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia"},{"name":"Department of Natural Sciences, Novosibirsk State University, Novosibirsk 630090, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia M.","family":"Yunusova","sequence":"additional","affiliation":[{"name":"Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0656-5806","authenticated-orcid":false,"given":"Sophia A.","family":"Yakovleva","sequence":"additional","affiliation":[{"name":"Department of Natural Sciences, Novosibirsk State University, Novosibirsk 630090, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia S.","family":"Chvileva","sequence":"additional","affiliation":[{"name":"Department of Natural Sciences, Novosibirsk State University, Novosibirsk 630090, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaterina R.","family":"Wolf","sequence":"additional","affiliation":[{"name":"Department of Natural Sciences, Novosibirsk State University, Novosibirsk 630090, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena V.","family":"Kiseleva","sequence":"additional","affiliation":[{"name":"Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9162-9108","authenticated-orcid":false,"given":"Elena V.","family":"Grigor\u2019eva","sequence":"additional","affiliation":[{"name":"Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viktori Y.","family":"Voinova","sequence":"additional","affiliation":[{"name":"Clinical Research Institute of Pediatrics Named after Acad. Y.E. Veltischev, Moscow 125412, Russia"},{"name":"The Mental Health Research Center, Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9594-1134","authenticated-orcid":false,"given":"Maria A.","family":"Lagarkova","sequence":"additional","affiliation":[{"name":"Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Moscow 119435, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaterina A.","family":"Pomerantseva","sequence":"additional","affiliation":[{"name":"Center for Genetics and Reproductive Medicine \u201cGENETICO\u201d, Moscow 119333, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5604-2627","authenticated-orcid":false,"given":"Elizaveta V.","family":"Musatova","sequence":"additional","affiliation":[{"name":"Center for Genetics and Reproductive Medicine \u201cGENETICO\u201d, Moscow 119333, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5152-9914","authenticated-orcid":false,"given":"Alexander V.","family":"Smirnov","sequence":"additional","affiliation":[{"name":"Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna V.","family":"Smirnova","sequence":"additional","affiliation":[{"name":"Clinical Research Institute of Pediatrics Named after Acad. Y.E. Veltischev, Moscow 125412, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana S.","family":"Stoklitskaya","sequence":"additional","affiliation":[{"name":"Center for Genetics and Reproductive Medicine \u201cGENETICO\u201d, Moscow 119333, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9500-1940","authenticated-orcid":false,"given":"Tatiana I.","family":"Arefieva","sequence":"additional","affiliation":[{"name":"National Medical Research Centre of Cardiology Named after Academician E. I. Chazov., Moscow 121552, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daria A.","family":"Larina","sequence":"additional","affiliation":[{"name":"Clinical Research Institute of Pediatrics Named after Acad. Y.E. Veltischev, Moscow 125412, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4230-6855","authenticated-orcid":false,"given":"Tatiana V.","family":"Nikitina","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0226-4213","authenticated-orcid":false,"given":"Inna E.","family":"Pristyazhnyuk","sequence":"additional","affiliation":[{"name":"Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,11,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1016\/S0022-3476(73)80493-7","article-title":"A New Syndrome with Hypotonia, Obesity, Mental Deficiency, and Facial, Oral, Ocular, and Limb Anomalies","volume":"83","author":"Hall","year":"1973","journal-title":"J. Pediatr."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1038\/ejhg.2012.251","article-title":"Changing Facial Phenotype in Cohen Syndrome: Towards Clues for an Earlier Diagnosis","volume":"21","author":"Blair","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.jpeds.2022.08.052","article-title":"Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome","volume":"252","author":"Alkaya","year":"2023","journal-title":"J. Pediatr."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1590\/S0004-27492009000600014","article-title":"Ocular Findings in Brazilian Identical Twins with Cohen Syndrome: Case Report","volume":"72","author":"Rim","year":"2009","journal-title":"Arq. Bras. Oftalmol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.ijdevneu.2018.05.004","article-title":"Gene Analysis: A Rare Gene Disease of Intellectual Deficiency-Cohen Syndrome","volume":"68","author":"Yang","year":"2018","journal-title":"Int. J. Dev. Neurosci."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.neuron.2015.09.048","article-title":"Genes That Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease","volume":"88","author":"Karaca","year":"2015","journal-title":"Neuron"},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Rafiq, M.A., Leblond, C.S., Saqib, M.A.N., Vincent, A.K., Ambalavanan, A., Khan, F.S., Ayaz, M., Shaheen, N., Spiegelman, D., and Ali, G. (2015). Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. BMC Med. Genet., 16.","DOI":"10.1186\/s12881-015-0183-0"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.neuron.2012.11.002","article-title":"Using Whole-Exome Sequencing to Identify Inherited Causes of Autism","volume":"77","author":"Yu","year":"2013","journal-title":"Neuron"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s12031-019-01394-w","article-title":"Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome","volume":"70","author":"Alipour","year":"2020","journal-title":"J. Mol. Neurosci. MN"},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Lee, Y.-K., Hwang, S.-K., Lee, S.-K., Yang, J., Kwak, J.-H., Seo, H., Ahn, H., Lee, Y.-S., Kim, J., and Lim, C.-S. (2020). Cohen Syndrome Patient iPSC-Derived Neurospheres and Forebrain-Like Glutamatergic Neurons Reveal Reduced Proliferation of Neural Progenitor Cells and Altered Expression of Synapse Genes. J. Clin. Med., 9.","DOI":"10.3390\/jcm9061886"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"e316","DOI":"10.1111\/aos.14255","article-title":"Ophthalmic Features of Retinitis Pigmentosa in Cohen Syndrome Caused by Pathogenic Variants in the VPS13B Gene","volume":"98","author":"Nasser","year":"2020","journal-title":"Acta Ophthalmol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1002\/ajmg.1320580112","article-title":"Identical Twins with Cohen Syndrome","volume":"58","author":"North","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Rejeb, I., Jilani, H., Elaribi, Y., Hizem, S., Hila, L., Zillahrdt, J.L., Chelly, J., and Benjemaa, L. (2017). First Case Report of Cohen Syndrome in the Tunisian Population Caused by VPS13B Mutations. BMC Med. Genet., 18.","DOI":"10.1186\/s12881-017-0493-5"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1002\/ajmg.a.31416","article-title":"Diagnostic Yield of Various Genetic Approaches in Patients with Unexplained Developmental Delay or Mental Retardation","volume":"140A","author":"Rauch","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1086\/375454","article-title":"Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport","volume":"72","author":"Kolehmainen","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"37665","DOI":"10.1074\/jbc.M111.267971","article-title":"Cohen Syndrome-Associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity*","volume":"286","author":"Seifert","year":"2011","journal-title":"J. Biol. Chem."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"e22","DOI":"10.1136\/jmg.2005.039867","article-title":"Mutational Spectrum of COH1 and Clinical Heterogeneity in Cohen Syndrome","volume":"43","author":"Seifert","year":"2006","journal-title":"J. Med. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"103973","DOI":"10.1016\/j.ejmg.2020.103973","article-title":"An Intronic Splice Site Alteration in Combination with a Large Deletion Affecting VPS13B (COH1) Causes Cohen Syndrome","volume":"63","author":"Boschann","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Zhao, S., Luo, Z., Xiao, Z., Li, L., Zhao, R., Yang, Y., and Zhong, Y. (2019). Case Report: Two Novel VPS13B Mutations in a Chinese Family with Cohen Syndrome and Hyperlinear Palms. BMC Med. Genet., 20.","DOI":"10.1186\/s12881-019-0920-x"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"9686","DOI":"10.1038\/s41598-022-13717-w","article-title":"Disease Relevance of Rare VPS13B Missense Variants for Neurodevelopmental Cohen Syndrome","volume":"12","author":"Zorn","year":"2022","journal-title":"Sci. Rep."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"3625","DOI":"10.1083\/jcb.201807019","article-title":"VPS13A and VPS13C Are Lipid Transport Proteins Differentially Localized at ER Contact Sites","volume":"217","author":"Kumar","year":"2018","journal-title":"J. Cell Biol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"7113","DOI":"10.1111\/febs.16280","article-title":"ATG2 and VPS13 Proteins: Molecular Highways Transporting Lipids to Drive Membrane Expansion and Organelle Communication","volume":"289","author":"McEwan","year":"2022","journal-title":"FEBS J."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1080\/15548627.2015.1034413","article-title":"TipC and the Chorea-Acanthocytosis Protein VPS13A Regulate Autophagy in Dictyostelium and Human HeLa Cells","volume":"11","author":"Calvo","year":"2015","journal-title":"Autophagy"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1038\/s41594-019-0203-4","article-title":"Atg2 Mediates Direct Lipid Transfer between Membranes for Autophagosome Formation","volume":"26","author":"Osawa","year":"2019","journal-title":"Nat. Struct. Mol. Biol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/88821","article-title":"A Conserved Sorting-Associated Protein Is Mutant in Chorea-Acanthocytosis","volume":"28","author":"Rampoldi","year":"2001","journal-title":"Nat. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1016\/j.ajhg.2016.01.014","article-title":"Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1\/Parkin-Dependent Mitophagy","volume":"98","author":"Lesage","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1002\/ana.25204","article-title":"Recessive Mutations in VPS13D Cause Childhood Onset Movement Disorders","volume":"83","author":"Gauthier","year":"2018","journal-title":"Ann. Neurol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1002\/ana.25220","article-title":"Mutations in VPS13D Lead to a New Recessive Ataxia with Spasticity and Mitochondrial Defects","volume":"83","author":"Seong","year":"2018","journal-title":"Ann. Neurol."},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Dziurdzik, S.K., and Conibear, E. (2021). The Vps13 Family of Lipid Transporters and Its Role at Membrane Contact Sites. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22062905"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1038\/s41467-019-09617-9","article-title":"SNAREs Define Targeting Specificity of Trafficking Vesicles by Combinatorial Interaction with Tethering Factors","volume":"10","author":"Koike","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Du, Y., Xiong, J., and Ji, W.-K. (2020). Trans-Golgi Network-Lipid Droplet Contacts Maintain the TGN Integrity and Function via Lipid Transfer Activities of VPS13B. bioRxiv.","DOI":"10.1101\/2020.12.16.423147"},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Li, P., Lees, J.A., Lusk, C.P., and Reinisch, K.M. (2020). Cryo-EM Reconstruction of a VPS13 Fragment Reveals a Long Groove to Channel Lipids between Membranes. J. Cell Biol., 219.","DOI":"10.1083\/jcb.202001161"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s00018-019-03192-4","article-title":"Vps13b Is Required for Acrosome Biogenesis through Functions in Golgi Dynamic and Membrane Trafficking","volume":"77","author":"Bordessoules","year":"2020","journal-title":"Cell. Mol. Life Sci."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"3349","DOI":"10.1074\/jbc.M114.608174","article-title":"Cohen Syndrome-Associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth*","volume":"290","author":"Seifert","year":"2015","journal-title":"J. Biol. Chem."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/s13041-020-00611-7","article-title":"Autophagy Pathway Upregulation in a Human iPSC-Derived Neuronal Model of Cohen Syndrome with VPS13B Missense Mutations","volume":"13","author":"Lee","year":"2020","journal-title":"Mol. Brain"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"3590","DOI":"10.1242\/dev.081513","article-title":"Centrosome Movements in Vivo Correlate with Specific Neurite Formation Downstream of LIM Homeodomain Transcription Factor Activity","volume":"139","author":"Andersen","year":"2012","journal-title":"Development"},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"de Curtis, I. (2007). Intracellular Mechanisms for Neuritogenesis, Springer US.","DOI":"10.1007\/978-0-387-68561-8"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1111\/jnc.12676","article-title":"Rab-Mediated Trafficking Role in Neurite Formation","volume":"129","author":"Gastaldi","year":"2014","journal-title":"J. Neurochem."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1016\/j.neuron.2012.10.008","article-title":"Golgi Outposts Shape Dendrite Morphology by Functioning as Sites of Acentrosomal Microtubule Nucleation in Neurons","volume":"76","author":"Jan","year":"2012","journal-title":"Neuron"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1186\/s13287-023-03308-5","article-title":"iPSC-Derived Cells Lack Immune Tolerance to Autologous NK-Cells Due to Imbalance in Ligands for Activating and Inhibitory NK-Cell Receptors","volume":"14","author":"Bogomiakova","year":"2023","journal-title":"Stem Cell Res. Ther."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Weissert, R. (2016). Multiple Sclerosis: Methods and Protocols, Springer. Methods in Molecular Biology.","DOI":"10.1007\/978-1-4939-2630-5"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"102651","DOI":"10.1016\/j.scr.2021.102651","article-title":"Generation of Induced Pluripotent Stem Cell Line, ICGi034-A, by Reprogramming Peripheral Blood Mononuclear Cells from a Patient with Parkinson\u2019s Disease Associated with GBA Mutation","volume":"59","author":"Drozdova","year":"2022","journal-title":"Stem Cell Res."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/j.cell.2010.12.032","article-title":"Reference Maps of Human ES and iPS Cell Variation Enable High-Throughput Characterization of Pluripotent Cell Lines","volume":"144","author":"Bock","year":"2011","journal-title":"Cell"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"203","DOI":"10.14712\/fb2016062050203","article-title":"Detection of Mycoplasma Contamination Directly from Culture Supernatant Using Polymerase Chain Reaction","volume":"62","author":"Pisal","year":"2016","journal-title":"Folia Biol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1836","DOI":"10.1038\/nprot.2012.116","article-title":"Directed Differentiation of Human Pluripotent Stem Cells to Cerebral Cortex Neurons and Neural Networks","volume":"7","author":"Shi","year":"2012","journal-title":"Nat. Protoc."},{"key":"ref_46","doi-asserted-by":"crossref","unstructured":"Morozova, K.N., Suldina, L.A., Malankhanova, T.B., Grigor\u2019eva, E.V., Zakian, S.M., Kiseleva, E., and Malakhova, A.A. (2018). Introducing an Expanded CAG Tract into the Huntingtin Gene Causes a Wide Spectrum of Ultrastructural Defects in Cultured Human Cells. PLoS ONE, 13.","DOI":"10.1371\/journal.pone.0204735"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1007\/s10517-007-0271-z","article-title":"Cultures of hESM Human Embryonic Stem Cells: Chromosomal Aberrations and Karyotype Stability","volume":"144","author":"Prokhorovich","year":"2007","journal-title":"Bull. Exp. Biol. Med."},{"key":"ref_48","unstructured":"(2023, October 04). Measuring Cell Fluorescence Using ImageJ\u2014The Open Lab Book v1.0. Available online: https:\/\/theolb.readthedocs.io\/en\/latest\/imaging\/measuring-cell-fluorescence-using-imagej.html."},{"key":"ref_49","doi-asserted-by":"crossref","unstructured":"Leonzino, M., Reinisch, K.M., and De Camilli, P. (2021). Insights into VPS13 Properties and Function Reveal a New Mechanism of Eukaryotic Lipid Transport. Biochim. Biophys. Acta BBA Mol. Cell Biol. Lipids, 1866.","DOI":"10.1016\/j.bbalip.2021.159003"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1776","DOI":"10.15252\/embr.201642943","article-title":"Molecular Insights into Protein Synthesis with Proline Residues","volume":"17","author":"Melnikov","year":"2016","journal-title":"EMBO Rep."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"6533","DOI":"10.1007\/s12035-017-0851-5","article-title":"Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene","volume":"55","author":"Gridina","year":"2018","journal-title":"Mol. Neurobiol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1007\/s00401-015-1528-7","article-title":"Mitochondria-Associated Membranes as Hubs for Neurodegeneration","volume":"131","author":"Krols","year":"2016","journal-title":"Acta Neuropathol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.ijdevneu.2015.11.007","article-title":"Endoplasmic Reticulum Pathology and Stress Response in Neurons Precede Programmed Necrosis after Neonatal Hypoxia-Ischemia","volume":"48","author":"Flock","year":"2016","journal-title":"Int. J. Dev. Neurosci."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1016\/j.neuron.2011.06.003","article-title":"Mitochondria: The Next (Neurode)Generation","volume":"70","author":"Schon","year":"2011","journal-title":"Neuron"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"e647","DOI":"10.1002\/iid3.647","article-title":"The Mitochondrial Associated Endoplasmic Reticulum Membranes: A Platform for the Pathogenesis of Inflammation-Mediated Metabolic Diseases","volume":"10","author":"Degechisa","year":"2022","journal-title":"Immun. Inflamm. Dis."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.tins.2016.01.008","article-title":"There\u2019s Something Wrong with My MAM; the ER\u2013Mitochondria Axis and Neurodegenerative Diseases","volume":"39","author":"Paillusson","year":"2016","journal-title":"Trends Neurosci."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"485","DOI":"10.5607\/en.2019.28.4.485","article-title":"Spatial Learning and Motor Deficits in Vacuolar Protein Sorting-Associated Protein 13b (Vps13b) Mutant Mouse","volume":"28","author":"Kim","year":"2019","journal-title":"Exp. Neurobiol."},{"key":"ref_58","doi-asserted-by":"crossref","unstructured":"Shearman, J.R., and Wilton, A.N. (2011). A Canine Model of Cohen Syndrome: Trapped Neutrophil Syndrome. BMC Genom., 12.","DOI":"10.1186\/1471-2164-12-258"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/j.cell.2007.11.019","article-title":"Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors","volume":"131","author":"Takahashi","year":"2007","journal-title":"Cell"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"2391","DOI":"10.1093\/hmg\/ddt630","article-title":"Cohen Syndrome Is Associated with Major Glycosylation Defects","volume":"23","author":"Duplomb","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/S0092-8674(02)00720-1","article-title":"Fragmentation and Dispersal of the Pericentriolar Golgi Complex Is Required for Entry into Mitosis in Mammalian Cells","volume":"109","author":"Hsu","year":"2002","journal-title":"Cell"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1111\/j.1600-0854.2010.01114.x","article-title":"Unraveling the Golgi Ribbon","volume":"11","author":"Wei","year":"2010","journal-title":"Traffic"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.ceb.2017.03.008","article-title":"Golgi Ribbon Disassembly during Mitosis, Differentiation and Disease Progression","volume":"47","author":"Wei","year":"2017","journal-title":"Curr. Opin. Cell Biol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"38","DOI":"10.3892\/ijmm.2021.4871","article-title":"The Role of the Golgi Apparatus in Disease (Review)","volume":"47","author":"Liu","year":"2021","journal-title":"Int. J. Mol. Med."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"448","DOI":"10.3389\/fnins.2015.00448","article-title":"Golgi Fragmentation in ALS Motor Neurons. New Mechanisms Targeting Microtubules, Tethers, and Transport Vesicles","volume":"9","author":"Haase","year":"2015","journal-title":"Front. Neurosci."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1120086","DOI":"10.3389\/fnins.2023.1120086","article-title":"Golgi Fragmentation\u2014One of the Earliest Organelle Phenotypes in Alzheimer\u2019s Disease Neurons","volume":"17","author":"Haukedal","year":"2023","journal-title":"Front. Neurosci."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"340","DOI":"10.3389\/fnins.2015.00340","article-title":"Golgi Fragmentation in Alzheimer\u2019s Disease","volume":"9","author":"Joshi","year":"2015","journal-title":"Front. Neurosci."},{"key":"ref_68","doi-asserted-by":"crossref","unstructured":"Mart\u00ednez-Men\u00e1rguez, J.\u00c1., Tom\u00e1s, M., Mart\u00ednez-Mart\u00ednez, N., and Mart\u00ednez-Alonso, E. (2019). Golgi Fragmentation in Neurodegenerative Diseases: Is There a Common Cause?. Cells, 8.","DOI":"10.3390\/cells8070748"},{"key":"ref_69","first-page":"47","article-title":"Fragmentation of the Golgi Complex of Dopaminergic Neurons in Human Substantia Nigra: New Cytopathological Findings in Parkinson\u2019s Disease","volume":"36","year":"2021","journal-title":"Histol. Histopathol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"jcs211987","DOI":"10.1242\/jcs.211987","article-title":"The Golgi Ribbon in Mammalian Cells Negatively Regulates Autophagy by Modulating mTOR Activity","volume":"131","author":"Gosavi","year":"2018","journal-title":"J. Cell Sci."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/1749-8104-6-38","article-title":"Microtubules Are Organized Independently of the Centrosome in Drosophilaneurons","volume":"6","author":"Nguyen","year":"2011","journal-title":"Neural Dev."},{"key":"ref_72","doi-asserted-by":"crossref","unstructured":"Rios, R.M. (2014). The Centrosome\u2013Golgi Apparatus Nexus. Philos. Trans. R. Soc. B Biol. Sci., 369.","DOI":"10.1098\/rstb.2013.0462"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1126\/science.1182179","article-title":"Axon Extension Occurs Independently of Centrosomal Microtubule Nucleation","volume":"327","author":"Stiess","year":"2010","journal-title":"Science"},{"key":"ref_74","doi-asserted-by":"crossref","unstructured":"Guadagno, N.A., and Progida, C. (2019). Rab GTPases: Switching to Human Diseases. Cells, 8.","DOI":"10.3390\/cells8080909"},{"key":"ref_75","doi-asserted-by":"crossref","unstructured":"Lu, Q., Wang, P.-S., and Yang, L. (2021). Golgi-Associated Rab GTPasesimplicated in Autophagy. Cell Biosci., 11.","DOI":"10.1186\/s13578-021-00543-2"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"jcs216127","DOI":"10.1242\/jcs.216127","article-title":"Rab6 Promotes Insulin Receptor and Cathepsin Trafficking to Regulate Autophagy Induction and Activity in Drosophila","volume":"131","author":"Ayala","year":"2018","journal-title":"J. Cell Sci."},{"key":"ref_77","first-page":"101","article-title":"Disorders of Metal Metabolism","volume":"2","author":"Ferreira","year":"2017","journal-title":"Transl. Sci. Rare Dis."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1002\/ddrr.1118","article-title":"The Neuronal Ceroid-Lipofuscinoses","volume":"17","author":"Bennett","year":"2013","journal-title":"Dev. Disabil. Res. Rev."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1111\/cge.13829","article-title":"Autosomal Dominant Neuronal Ceroid Lipofuscinosis: Clinical Features and Molecular Basis","volume":"99","author":"Naseri","year":"2021","journal-title":"Clin. Genet."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1186\/s13023-018-0886-3","article-title":"Neural Stem Cells for Disease Modeling and Evaluation of Therapeutics for Tay-Sachs Disease","volume":"13","author":"Vu","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1002\/cm.21051","article-title":"Regulation of Late Endosomal\/Lysosomal Maturation and Trafficking by Cortactin Affects Golgi Morphology","volume":"69","author":"Kirkbride","year":"2012","journal-title":"Cytoskeleton"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1093\/hmg\/ddr584","article-title":"GM130 Gain-of-Function Induces Cell Pathology in a Model of Lysosomal Storage Disease","volume":"21","author":"Roy","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_83","first-page":"81","article-title":"Lysosomal Storage Diseases-Regulating Neurodegeneration","volume":"9","author":"Onyenwoke","year":"2015","journal-title":"J. Exp. Neurosci."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.1111\/bph.12453","article-title":"Quality Control Gone Wrong: Mitochondria, Lysosomal Storage Disorders and Neurodegeneration","volume":"171","author":"Osellame","year":"2014","journal-title":"Br. J. Pharmacol."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1038\/s41419-017-0025-4","article-title":"Mitochondria-Associated ER Membranes (MAMs) and Lysosomal Storage Diseases","volume":"9","author":"Annunziata","year":"2018","journal-title":"Cell Death Dis."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1016\/j.molcel.2009.10.021","article-title":"GM1-Ganglioside Accumulation at the Mitochondria-Associated ER Membranes Links ER Stress to Ca(2+)-Dependent Mitochondrial Apoptosis","volume":"36","author":"Sano","year":"2009","journal-title":"Mol. Cell"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/j.tcb.2018.02.009","article-title":"Endoplasmic Reticulum\u2013Mitochondrial Contactology: Structure and Signaling Functions","volume":"28","author":"Weaver","year":"2018","journal-title":"Trends Cell Biol."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/s13024-017-0183-y","article-title":"Endoplasmic Reticulum Stress and Inflammation in the Central Nervous System","volume":"12","author":"Sprenkle","year":"2017","journal-title":"Mol. Neurodegener."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"eabq5209","DOI":"10.1126\/science.abq5209","article-title":"Endosomal Lipid Signaling Reshapes the Endoplasmic Reticulum to Control Mitochondrial Function","volume":"378","author":"Jang","year":"2022","journal-title":"Science"}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/12\/23\/2702\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T21:29:57Z","timestamp":1760131797000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/12\/23\/2702"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,25]]},"references-count":89,"journal-issue":{"issue":"23","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["cells12232702"],"URL":"https:\/\/doi.org\/10.3390\/cells12232702","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,25]]}}}