{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T02:47:31Z","timestamp":1792291651258,"version":"4.4.0"},"reference-count":96,"publisher":"The Company of Biologists","issue":"12","license":[{"start":{"date-parts":[[2022,12,13]],"date-time":"2022-12-13T00:00:00Z","timestamp":1670889600000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100022951","name":"Batten Disease Support and Research Association Australia","doi-asserted-by":"crossref","award":["RGP204"],"award-info":[{"award-number":["RGP204"]}],"id":[{"id":"10.13039\/501100022951","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100012503","name":"Royal Hobart Hospital Research Foundation","doi-asserted-by":"crossref","award":["17-205"],"award-info":[{"award-number":["17-205"]}],"id":[{"id":"10.13039\/100012503","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"crossref","award":["APP1136913"],"award-info":[{"award-number":["APP1136913"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,12,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>CLN3 disease is a lysosomal storage disorder associated with fatal neurodegeneration that is caused by mutations in CLN3, with most affected individuals carrying at least one allele with a 966\u2005bp deletion. Using CRISPR\/Cas9, we corrected the 966\u2005bp deletion mutation in human induced pluripotent stem cells (iPSCs) of a compound heterozygous patient (CLN3 \u0394 966\u2005bp and E295K). We differentiated these isogenic iPSCs, and iPSCs from an unrelated healthy control donor, to neurons and identified disease-related changes relating to protein synthesis, trafficking and degradation, and in neuronal activity, which were not apparent in CLN3-corrected or healthy control neurons. CLN3 neurons showed numerous membrane-bound vacuoles containing diverse storage material and hyperglycosylation of the lysosomal LAMP1 protein. Proteomic analysis showed increase in lysosomal-related proteins and many ribosomal subunit proteins in CLN3 neurons, accompanied by downregulation of proteins related to axon guidance and endocytosis. CLN3 neurons also had lower electrophysical activity as recorded using microelectrode arrays. These data implicate inter-related pathways in protein homeostasis and neurite arborization as contributing to CLN3 disease, and which could be potential targets for therapy.<\/jats:p>","DOI":"10.1242\/dmm.049651","type":"journal-article","created":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T03:38:10Z","timestamp":1669865890000},"source":"Crossref","is-referenced-by-count":21,"title":["Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons"],"prefix":"10.1242","volume":"15","author":[{"given":"Sueanne","family":"Chear","sequence":"first","affiliation":[{"name":"Wicking Dementia Research and Education Centre, University of Tasmania 1 , Hobart, TAS 7001 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharn","family":"Perry","sequence":"additional","affiliation":[{"name":"Wicking Dementia Research and Education Centre, University of Tasmania 1 , Hobart, TAS 7001 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Wilson","sequence":"additional","affiliation":[{"name":"University of Tasmania 2 Central Science Laboratory , , Hobart, TAS 7001 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0943-2702","authenticated-orcid":false,"given":"Aidan","family":"Bindoff","sequence":"additional","affiliation":[{"name":"Wicking Dementia Research and Education Centre, University of Tasmania 1 , Hobart, TAS 7001 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Talbot","sequence":"additional","affiliation":[{"name":"Wicking Dementia Research and Education Centre, University of Tasmania 1 , Hobart, TAS 7001 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tyson L.","family":"Ware","sequence":"additional","affiliation":[{"name":"Royal Hobart Hospital 3 Department of Paediatrics , , Hobart, TAS 7000 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Grubman","sequence":"additional","affiliation":[{"name":"Monash University 4 Department of Anatomy and Developmental Biology , , Clayton, VIC 3800 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James C.","family":"Vickers","sequence":"additional","affiliation":[{"name":"Wicking Dementia Research and Education Centre, University of Tasmania 1 , Hobart, TAS 7001 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"P\u00e9bay","sequence":"additional","affiliation":[{"name":"University of Melbourne 5 Department of Anatomy and Physiology , , Parkville, VIC 3010 , Australia"},{"name":"Royal Melbourne Hospital, University of Melbourne 6 Department of Surgery , , Parkville, VIC 3010 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan B.","family":"Ruddle","sequence":"additional","affiliation":[{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital 7 , East Melbourne, VIC 3002 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna E.","family":"King","sequence":"additional","affiliation":[{"name":"Wicking Dementia Research and Education Centre, University of Tasmania 1 , Hobart, TAS 7001 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex W.","family":"Hewitt","sequence":"additional","affiliation":[{"name":"Menzies Institute for Medical Research, University of Tasmania 8 , Hobart, TAS 7001 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1770-7910","authenticated-orcid":false,"given":"Anthony L.","family":"Cook","sequence":"additional","affiliation":[{"name":"Wicking Dementia Research and Education Centre, University of Tasmania 1 , Hobart, TAS 7001 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2022,12,13]]},"reference":[{"key":"2022121312395600300_DMM049651C1","doi-asserted-by":"publisher","first-page":"1807","DOI":"10.1016\/j.bbadis.2012.11.014","article-title":"Human pathology in NCL","volume":"1832","author":"Anderson","year":"2013","journal-title":"Biochim. Biophys. Acta"},{"key":"2022121312395600300_DMM049651C2","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1007\/BF00607283","article-title":"MRI of neuronal ceroid lipofuscinosis. I. Cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis","volume":"38","author":"Autti","year":"1996","journal-title":"Neuroradiology"},{"key":"2022121312395600300_DMM049651C3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.18637\/jss.v067.i01","article-title":"Fitting linear mixed-effects models using lme4","volume":"67","author":"Bates","year":"2015","journal-title":"J. Stat. Softw."},{"key":"2022121312395600300_DMM049651C4","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1002\/ajmg.1320420421","article-title":"Neurology of the neuronal ceroid-lipofuscinoses: late infantile and juvenile types","volume":"42","author":"Boustany","year":"1992","journal-title":"Am. J. Med. Genet."},{"key":"2022121312395600300_DMM049651C5","doi-asserted-by":"publisher","first-page":"378","DOI":"10.32614\/RJ-2017-066","article-title":"glmmTMB balances speed and flexibility among packages for zero-inflated generalized linear mixed modeling","volume":"9","author":"Brooks","year":"2017","journal-title":"R Journal"},{"key":"2022121312395600300_DMM049651C6","doi-asserted-by":"publisher","first-page":"20483","DOI":"10.1074\/jbc.M602180200","article-title":"Autophagy is disrupted in a knock-in mouse model of juvenile neuronal Ceroid Lipofuscinosis","volume":"281","author":"Cao","year":"2006","journal-title":"J. Biol. Chem."},{"key":"2022121312395600300_DMM049651C7","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1126\/science.277.5323.228","article-title":"Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis","volume":"277","author":"Carstea","year":"1997","journal-title":"Science"},{"key":"2022121312395600300_DMM049651C8","doi-asserted-by":"publisher","first-page":"e0227829","DOI":"10.1371\/journal.pone.0227829","article-title":"Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology","volume":"15","author":"Cawley","year":"2020","journal-title":"PLoS ONE"},{"key":"2022121312395600300_DMM049651C9","doi-asserted-by":"publisher","first-page":"936","DOI":"10.1111\/j.1600-0854.2008.00735.x","article-title":"btn1 affects endocytosis, polarization of sterol-rich membrane domains and polarized growth in Schizosaccharomyces pombe","volume":"9","author":"Codlin","year":"2008","journal-title":"Traffic"},{"key":"2022121312395600300_DMM049651C10","doi-asserted-by":"publisher","first-page":"2013","DOI":"10.1093\/nar\/gkm076","article-title":"QuantiSNP: an objective Bayes Hidden-Markov model to detect and accurately map copy number variation using SNP genotyping data","volume":"35","author":"Colella","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"2022121312395600300_DMM049651C11","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1016\/j.bbadis.2006.08.002","article-title":"Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis","volume":"1762","author":"Cooper","year":"2006","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"key":"2022121312395600300_DMM049651C12","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1097\/00125817-200011000-00003","article-title":"The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci","volume":"2","author":"Cordeiro","year":"2000","journal-title":"Genet. Med."},{"key":"2022121312395600300_DMM049651C13","doi-asserted-by":"publisher","first-page":"79","DOI":"10.2217\/clp.11.70","article-title":"The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking","volume":"7","author":"Cotman","year":"2012","journal-title":"Clin. Lipidol."},{"key":"2022121312395600300_DMM049651C14","doi-asserted-by":"publisher","first-page":"2709","DOI":"10.1093\/hmg\/11.22.2709","article-title":"Cln3(Deltaex7\/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth","volume":"11","author":"Cotman","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"2022121312395600300_DMM049651C15","doi-asserted-by":"publisher","first-page":"1016","DOI":"10.1177\/2472555217696797","article-title":"Development of a modular automated system for maintenance and differentiation of adherent human pluripotent stem cells","volume":"22","author":"Crombie","year":"2017","journal-title":"SLAS Discov."},{"key":"2022121312395600300_DMM049651C16","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/s41583-020-00407-7","article-title":"The functional organization of axonal mRNA transport and translation","volume":"22","author":"Dalla Costa","year":"2021","journal-title":"Nat. Rev. Neurosci."},{"key":"2022121312395600300_DMM049651C17","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1038\/nrd2617","article-title":"The adult human brain in preclinical drug development","volume":"7","author":"Dragunow","year":"2008","journal-title":"Nat. Rev. Drug Discov."},{"key":"2022121312395600300_DMM049651C18","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1186\/s13287-015-0112-3","article-title":"Generation of human iPSCs from cells of fibroblastic and epithelial origin by means of the oriP\/EBNA-1 episomal reprogramming system","volume":"6","author":"Drozd","year":"2015","journal-title":"Stem Cell Res. Ther."},{"key":"2022121312395600300_DMM049651C19","doi-asserted-by":"publisher","first-page":"2573","DOI":"10.1046\/j.1471-4159.1999.0722573.x","article-title":"A lysosomal proteinase, the late infantile neuronal ceroid lipofuscinosis gene (CLN2) product, is essential for degradation of a hydrophobic protein, the subunit c of ATP synthase","volume":"72","author":"Ezaki","year":"1999","journal-title":"J. Neurochem."},{"key":"2022121312395600300_DMM049651C20","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1016\/j.yexmp.2014.10.003","article-title":"Neuronal ceroid lipofuscinosis genes, CLN2, CLN3 and CLN5 are spatially and temporally co-expressed in a developing mouse brain","volume":"97","author":"Fabritius","year":"2014","journal-title":"Exp. Mol. Pathol."},{"key":"2022121312395600300_DMM049651C21","doi-asserted-by":"publisher","first-page":"E2955","DOI":"10.1073\/pnas.1616363114","article-title":"BORC\/kinesin-1 ensemble drives polarized transport of lysosomes into the axon","volume":"114","author":"Far\u00edas","year":"2017","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2022121312395600300_DMM049651C22","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1186\/1471-2202-5-57","article-title":"Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis","volume":"5","author":"Fossale","year":"2004","journal-title":"BMC Neurosci."},{"key":"2022121312395600300_DMM049651C23","doi-asserted-by":"publisher","first-page":"754045","DOI":"10.3389\/fneur.2021.754045","article-title":"The genetic basis of phenotypic heterogeneity in the neuronal ceroid lipofuscinoses","volume":"12","author":"Gardner","year":"2021","journal-title":"Front. Neurol."},{"key":"2022121312395600300_DMM049651C24","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1016\/j.yexcr.2010.09.007","article-title":"A novel interaction of CLN3 with nonmuscle myosin-IIB and defects in cell motility of Cln3(\u2212\/\u2212) cells","volume":"317","author":"Getty","year":"2011","journal-title":"Exp. Cell Res."},{"key":"2022121312395600300_DMM049651C25","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1053\/ejpn.2000.0463","article-title":"Morphological studies on CLN2","volume":"5","author":"Goebel","year":"2001","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"2022121312395600300_DMM049651C26","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1006\/mgme.1999.2836","article-title":"Expression studies of CLN3 protein (Battenin) in fusion with the green fluorescent protein in mammalian cells in vitro","volume":"66","author":"Golabek","year":"1999","journal-title":"Mol. Genet. Metab."},{"key":"2022121312395600300_DMM049651C27","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1186\/s40478-019-0871-7","article-title":"Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis","volume":"7","author":"Gomez-Giro","year":"2019","journal-title":"Acta Neuropathol. Commun."},{"key":"2022121312395600300_DMM049651C28","doi-asserted-by":"publisher","first-page":"735","DOI":"10.1093\/hmg\/9.5.735","article-title":"Batten disease: evaluation of CLN3 mutations on protein localization and function","volume":"9","author":"Haskell","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"2022121312395600300_DMM049651C29","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/s41596-018-0082-x","article-title":"Single-pot, solid-phase-enhanced sample preparation for proteomics experiments","volume":"14","author":"Hughes","year":"2019","journal-title":"Nat. Protoc."},{"key":"2022121312395600300_DMM049651C30","doi-asserted-by":"publisher","first-page":"17125","DOI":"10.1038\/s41598-019-53647-8","article-title":"Functional characterization of human pluripotent stem cell-derived cortical networks differentiated on laminin-521 substrate: comparison to rat cortical cultures","volume":"9","author":"Hyv\u00e4rinen","year":"2019","journal-title":"Sci. Rep."},{"key":"2022121312395600300_DMM049651C31","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1016\/0168-0102(93)90076-3","article-title":"Formation and maturation of synapses in primary cultures of rat cerebral cortical cells: an electron microscopic study","volume":"16","author":"Ichikawa","year":"1993","journal-title":"Neurosci. Res."},{"key":"2022121312395600300_DMM049651C32","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1016\/j.brainres.2013.08.004","article-title":"Measurement of saturation processes in glutamatergic and GABAergic synapse densities during long-term development of cultured rat cortical networks","volume":"1534","author":"Ito","year":"2013","journal-title":"Brain Res."},{"key":"2022121312395600300_DMM049651C33","doi-asserted-by":"publisher","first-page":"102020","DOI":"10.1016\/j.isci.2020.102020","article-title":"Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses","volume":"24","author":"Iwan","year":"2021","journal-title":"iScience"},{"key":"2022121312395600300_DMM049651C34","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/S0304-3940(99)00095-6","article-title":"Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases","volume":"264","author":"Junaid","year":"1999","journal-title":"Neurosci. Lett."},{"key":"2022121312395600300_DMM049651C35","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1038\/nature22403","article-title":"Common genetic variation drives molecular heterogeneity in human iPSCs","volume":"546","author":"Kilpinen","year":"2017","journal-title":"Nature"},{"key":"2022121312395600300_DMM049651C36","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1042\/BJ20080411","article-title":"Dipeptidyl-peptidase I does not functionally compensate for the loss of tripeptidyl-peptidase I in the neurodegenerative disease late-infantile neuronal ceroid lipofuscinosis","volume":"415","author":"Kim","year":"2008","journal-title":"Biochem. J."},{"key":"2022121312395600300_DMM049651C37","doi-asserted-by":"publisher","first-page":"931","DOI":"10.1021\/acsptsci.0c00077","article-title":"An iPSC-derived neuron model of CLN3 disease facilitates small molecule phenotypic screening","volume":"3","author":"Kinarivala","year":"2020","journal-title":"ACS Pharmacol. Transl. Sci."},{"key":"2022121312395600300_DMM049651C38","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1016\/j.neuron.2014.05.007","article-title":"Clathrin\/AP-2 mediate synaptic vesicle reformation from endosome-like vacuoles but are not essential for membrane retrieval at central synapses","volume":"82","author":"Kononenko","year":"2014","journal-title":"Neuron"},{"key":"2022121312395600300_DMM049651C39","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1016\/j.expneurol.2007.09.012","article-title":"Attenuation of AMPA receptor activity improves motor skills in a mouse model of juvenile Batten disease","volume":"209","author":"Kov\u00e1cs","year":"2008","journal-title":"Exp. Neurol."},{"key":"2022121312395600300_DMM049651C40","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1016\/j.nbd.2005.12.018","article-title":"Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease","volume":"22","author":"Kov\u00e1cs","year":"2006","journal-title":"Neurobiol. Dis."},{"key":"2022121312395600300_DMM049651C41","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1016\/j.neulet.2015.09.012","article-title":"Abnormally increased surface expression of AMPA receptors in the cerebellum, cortex and striatum of Cln3(\u2212\/\u2212) mice","volume":"607","author":"Kov\u00e1cs","year":"2015","journal-title":"Neurosci. Lett."},{"key":"2022121312395600300_DMM049651C42","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1016\/j.stemcr.2015.12.009","article-title":"Genetic variability overrides the impact of parental cell type and determines iPSC differentiation potential","volume":"6","author":"Kytt\u00e4l\u00e4","year":"2016","journal-title":"Stem Cell Rep."},{"key":"2022121312395600300_DMM049651C43","doi-asserted-by":"publisher","first-page":"10591","DOI":"10.1038\/s41598-020-67478-5","article-title":"A tailored Cln3Q352X mouse model for testing therapeutic interventions in CLN3 Batten disease","volume":"10","author":"Langin","year":"2020","journal-title":"Sci. Rep."},{"key":"2022121312395600300_DMM049651C44","doi-asserted-by":"publisher","first-page":"1005","DOI":"10.1038\/s41586-022-05221-y","article-title":"CLN3 is required for the clearance of glycerophosphodiesters from lysosomes","volume":"609","author":"Laqtom","year":"2022","journal-title":"Nature"},{"key":"2022121312395600300_DMM049651C45","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1016\/0092-8674(95)90274-0","article-title":"Isolation of a novel gene underlying batten disease, CLN3","volume":"82","author":"Lerner","year":"1995","journal-title":"Cell"},{"key":"2022121312395600300_DMM049651C46","doi-asserted-by":"publisher","first-page":"14876","DOI":"10.1073\/pnas.1520490112","article-title":"Glycosylation inhibition reduces cholesterol accumulation in NPC1 protein-deficient cells","volume":"112","author":"Li","year":"2015","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2022121312395600300_DMM049651C47","doi-asserted-by":"publisher","first-page":"2005","DOI":"10.1093\/hmg\/ddt596","article-title":"Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway","volume":"23","author":"Lojewski","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"2022121312395600300_DMM049651C48","doi-asserted-by":"publisher","first-page":"3395","DOI":"10.1523\/JNEUROSCI.4605-06.2007","article-title":"Robo1 and Robo2 cooperate to control the guidance of major axonal tracts in the mammalian forebrain","volume":"27","author":"L\u00f3pez-Bendito","year":"2007","journal-title":"J. Neurosci."},{"key":"2022121312395600300_DMM049651C49","doi-asserted-by":"publisher","first-page":"874","DOI":"10.1016\/j.neuron.2007.06.041","article-title":"Postsynaptic positioning of endocytic zones and AMPA receptor cycling by physical coupling of dynamin-3 to Homer","volume":"55","author":"Lu","year":"2007","journal-title":"Neuron"},{"key":"2022121312395600300_DMM049651C50","doi-asserted-by":"publisher","first-page":"3139","DOI":"10.21105\/joss.03139","article-title":"performance: an R package for assessment, comparison and testing of statistical models","volume":"6","author":"L\u00fcdecke","year":"2021","journal-title":"J. Open Source Softw."},{"key":"2022121312395600300_DMM049651C51","doi-asserted-by":"publisher","first-page":"3017","DOI":"10.1093\/hmg\/ddh321","article-title":"Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway","volume":"13","author":"Luiro","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"2022121312395600300_DMM049651C52","doi-asserted-by":"publisher","first-page":"191","DOI":"10.3390\/biom11020191","article-title":"Lysosomal function and axon guidance: is there a meaningful liaison?","volume":"11","author":"Manzoli","year":"2021","journal-title":"Biomolecules"},{"key":"2022121312395600300_DMM049651C53","doi-asserted-by":"publisher","first-page":"3559","DOI":"10.1016\/j.bbadis.2018.08.013","article-title":"Cln3 function is linked to osmoregulation in a Dictyostelium model of Batten disease","volume":"1864","author":"Mathavarajah","year":"2018","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"key":"2022121312395600300_DMM049651C54","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/S0925-4439(99)00077-0","article-title":"Glycoprotein lysosomal storage disorders: \u03b1- and \u03b2-mannosidosis, fucosidosis and \u03b1-N-acetylgalactosaminidase deficiency","volume":"1455","author":"Michalski","year":"1999","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"key":"2022121312395600300_DMM049651C55","doi-asserted-by":"publisher","first-page":"6332","DOI":"10.1038\/s41598-021-85471-4","article-title":"Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease","volume":"11","author":"Minnis","year":"2021","journal-title":"Sci. Rep."},{"key":"2022121312395600300_DMM049651C56","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1016\/j.dib.2016.06.027","article-title":"Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin","volume":"8","author":"Minye","year":"2016","journal-title":"Data Brief."},{"key":"2022121312395600300_DMM049651C57","doi-asserted-by":"publisher","first-page":"2182","DOI":"10.1016\/j.stemcr.2021.07.001","article-title":"Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro","volume":"16","author":"Mossink","year":"2021","journal-title":"Stem Cell Rep."},{"key":"2022121312395600300_DMM049651C58","doi-asserted-by":"publisher","first-page":"2018","DOI":"10.20944\/preprints202008.0091.v1","article-title":"A simple differentiation protocol for generation of induced pluripotent stem cell-derived basal forebrain-like cholinergic neurons for Alzheimer's disease and frontotemporal dementia disease modeling","volume":"9","author":"Mu\u00f1oz","year":"2020","journal-title":"Cells"},{"key":"2022121312395600300_DMM049651C59","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1086\/514846","article-title":"Spectrum of mutations in the Batten disease gene, CLN3","volume":"61","author":"Munroe","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"2022121312395600300_DMM049651C60","doi-asserted-by":"publisher","first-page":"2298","DOI":"10.1126\/science.290.5500.2298","article-title":"Identification of HE1 as the second gene of Niemann-Pick C disease","volume":"290","author":"Naureckiene","year":"2000","journal-title":"Science"},{"key":"2022121312395600300_DMM049651C61","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1186\/s13059-021-02293-3","article-title":"Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells","volume":"22","author":"Neavin","year":"2021","journal-title":"Genome Biol."},{"key":"2022121312395600300_DMM049651C62","doi-asserted-by":"publisher","first-page":"26181","DOI":"10.1038\/srep26181","article-title":"Physiological maturation and drug responses of human induced pluripotent stem cell-derived cortical neuronal networks in long-term culture","volume":"6","author":"Odawara","year":"2016","journal-title":"Sci. Rep."},{"key":"2022121312395600300_DMM049651C63","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1111\/nyas.12990","article-title":"Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)","volume":"1371","author":"Ouseph","year":"2016","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"2022121312395600300_DMM049651C64","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1002\/ajmg.1320420428","article-title":"Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)","volume":"42","author":"Palmer","year":"1992","journal-title":"Am. J. Med. Genet."},{"key":"2022121312395600300_DMM049651C65","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1002\/ajmg.1320570230","article-title":"Batten disease and the ATP synthase subunit c turnover pathway: Raising antibodies to subunit c","volume":"57","author":"Palmer","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"2022121312395600300_DMM049651C66","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1152\/physiol.00041.2009","article-title":"Lysosomal storage disease: revealing lysosomal function and physiology","volume":"25","author":"Parkinson-Lawrence","year":"2010","journal-title":"Physiology"},{"key":"2022121312395600300_DMM049651C67","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1186\/s40478-017-0476-y","article-title":"Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons","volume":"5","author":"Parviainen","year":"2017","journal-title":"Acta Neuropathol. Commun."},{"key":"2022121312395600300_DMM049651C68","doi-asserted-by":"publisher","first-page":"101916","DOI":"10.1016\/j.pneurobio.2020.101916","article-title":"Axon guidance receptors: endocytosis, trafficking and downstream signaling from endosomes","volume":"198","author":"Pasterkamp","year":"2021","journal-title":"Prog. Neurobiol."},{"key":"2022121312395600300_DMM049651C69","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1084\/jem.20150951","article-title":"Conditional deletion of L1CAM in human neurons impairs both axonal and dendritic arborization and action potential generation","volume":"213","author":"Patzke","year":"2016","journal-title":"J. Exp. Med."},{"key":"2022121312395600300_DMM049651C70","doi-asserted-by":"publisher","first-page":"1083","DOI":"10.1007\/s10545-011-9323-7","article-title":"Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients","volume":"34","author":"P\u00e9rez-Poyato","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"key":"2022121312395600300_DMM049651C71","doi-asserted-by":"publisher","first-page":"D543","DOI":"10.1093\/nar\/gkab1038","article-title":"The PRIDE database resources in 2022: a hub for mass spectrometry-based proteomics evidences","volume":"50","author":"Perez-Riverol","year":"2022","journal-title":"Nucleic Acids Res."},{"key":"2022121312395600300_DMM049651C72","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1016\/j.mcn.2013.08.004","article-title":"Sema4D localizes to synapses and regulates GABAergic synapse development as a membrane-bound molecule in the mammalian hippocampus","volume":"57","author":"Raissi","year":"2013","journal-title":"Mol. Cell. Neurosci."},{"key":"2022121312395600300_DMM049651C73","doi-asserted-by":"publisher","DOI":"10.1101\/2022.05.20.492784","article-title":"The Batten disease protein CLN3 is important for stress granules dynamics and translational activity","author":"Relton","year":"2022","journal-title":"bioRxiv"},{"key":"2022121312395600300_DMM049651C74","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1002\/dvdy.24609","article-title":"Axon guidance pathways and the control of gene expression","volume":"247","author":"Russell","year":"2018","journal-title":"Dev. Dyn."},{"key":"2022121312395600300_DMM049651C75","doi-asserted-by":"publisher","first-page":"9592","DOI":"10.1074\/jbc.RA119.008852","article-title":"Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking","volume":"294","author":"Schmidtke","year":"2019","journal-title":"J. Biol. Chem."},{"key":"2022121312395600300_DMM049651C76","doi-asserted-by":"publisher","first-page":"e96647","DOI":"10.1371\/journal.pone.0096647","article-title":"CLN3 deficient cells display defects in the ARF1-Cdc42 pathway and actin-dependent events","volume":"9","author":"Schultz","year":"2014","journal-title":"PLoS ONE"},{"key":"2022121312395600300_DMM049651C77","doi-asserted-by":"publisher","first-page":"e15377","DOI":"10.15252\/emmm.202115377","article-title":"TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease","volume":"14","author":"Scotto Rosato","year":"2022","journal-title":"EMBO Mol. Med."},{"key":"2022121312395600300_DMM049651C78","doi-asserted-by":"publisher","first-page":"e1628","DOI":"10.1002\/wrna.1628","article-title":"Translational control in aging and neurodegeneration","volume":"12","author":"Skariah","year":"2021","journal-title":"Wiley Interdiscip. Rev. RNA"},{"key":"2022121312395600300_DMM049651C79","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1042\/bj3340547","article-title":"Specific alterations in levels of mannose 6-phosphorylated glycoproteins in different neuronal ceroid lipofuscinoses","volume":"334","author":"Sleat","year":"1998","journal-title":"Biochem. J."},{"key":"2022121312395600300_DMM049651C80","doi-asserted-by":"publisher","first-page":"3787","DOI":"10.1021\/acs.jproteome.7b00460","article-title":"Proteomic analysis of brain and cerebrospinal fluid from the three major forms of neuronal ceroid lipofuscinosis reveals potential biomarkers","volume":"16","author":"Sleat","year":"2017","journal-title":"J. Proteome Res."},{"key":"2022121312395600300_DMM049651C81","doi-asserted-by":"publisher","first-page":"2244","DOI":"10.1074\/mcp.RA119.001587","article-title":"Analysis of brain and cerebrospinal fluid from mouse models of the three major forms of neuronal ceroid lipofuscinosis reveals changes in the lysosomal proteome","volume":"18","author":"Sleat","year":"2019","journal-title":"Mol. Cell. Proteomics"},{"key":"2022121312395600300_DMM049651C82","doi-asserted-by":"publisher","first-page":"5721","DOI":"10.1074\/jbc.M115.682161","article-title":"Requirement of neuronal ribosome synthesis for growth and maintenance of the dendritic tree","volume":"291","author":"Slomnicki","year":"2016","journal-title":"J. Biol. Chem."},{"key":"2022121312395600300_DMM049651C83","doi-asserted-by":"publisher","first-page":"625","DOI":"10.3390\/ijms19020625","article-title":"Altered expression of ganglioside metabolizing enzymes results in GM3 ganglioside accumulation in cerebellar cells of a mouse model of juvenile neuronal ceroid lipofuscinosis","volume":"19","author":"Somogyi","year":"2018","journal-title":"Int. J. Mol. Sci."},{"key":"2022121312395600300_DMM049651C84","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1007\/7651_2021_421","article-title":"Image-based quantitation of kainic acid-induced excitotoxicity as a model of neurodegeneration in human iPSC-derived neurons","volume":"2549","author":"Talbot","year":"2022","journal-title":"Methods Mol. Biol."},{"key":"2022121312395600300_DMM049651C85","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1016\/j.scr.2013.05.002","article-title":"Astroglial cells regulate the developmental timeline of human neurons differentiated from induced pluripotent stem cells","volume":"11","author":"Tang","year":"2013","journal-title":"Stem Cell Res."},{"key":"2022121312395600300_DMM049651C86","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1038\/s42003-021-01682-5","article-title":"A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor-RPE interface","volume":"4","author":"Tang","year":"2021","journal-title":"Commun. Biol."},{"key":"2022121312395600300_DMM049651C87","doi-asserted-by":"publisher","first-page":"18065","DOI":"10.1523\/JNEUROSCI.0498-13.2013","article-title":"CLN3 loss disturbs membrane microdomain properties and protein transport in brain endothelial cells","volume":"33","author":"Tecedor","year":"2013","journal-title":"J. Neurosci."},{"key":"2022121312395600300_DMM049651C88","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1186\/s13041-021-00851-1","article-title":"Postsynaptic structure formation of human iPS cell-derived neurons takes longer than presynaptic formation during neural differentiation in vitro","volume":"14","author":"Togo","year":"2021","journal-title":"Mol. Brain"},{"key":"2022121312395600300_DMM049651C89","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1002\/ajmg.1320570236","article-title":"Sphingolipid activator proteins (SAPs) are stored together with glycosphingolipids in the infantile neuronal ceroid-lipofuscinosis (INCL)","volume":"57","author":"Tyynel\u00e4","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"2022121312395600300_DMM049651C90","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1111\/j.1750-3639.2004.tb00077.x","article-title":"Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation","volume":"14","author":"Tyynel\u00e4","year":"2004","journal-title":"Brain Pathol."},{"key":"2022121312395600300_DMM049651C91","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1016\/S0079-6123(04)47013-7","article-title":"Dynamics and plasticity in developing neuronal networks in vitro","volume":"147","author":"Van Pelt","year":"2005","journal-title":"Prog. Brain Res."},{"key":"2022121312395600300_DMM049651C92","doi-asserted-by":"publisher","first-page":"931","DOI":"10.1093\/hmg\/ddp560","article-title":"Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease","volume":"19","author":"Vitiello","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"2022121312395600300_DMM049651C93","doi-asserted-by":"publisher","first-page":"1665","DOI":"10.1101\/gr.6861907","article-title":"PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data","volume":"17","author":"Wang","year":"2007","journal-title":"Genome Res."},{"key":"2022121312395600300_DMM049651C94","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.ymeth.2021.02.009","article-title":"Use of CRISPR\/Cas ribonucleoproteins for high throughput gene editing of induced pluripotent stem cells","volume":"194","author":"Wang","year":"2021","journal-title":"Methods."},{"key":"2022121312395600300_DMM049651C95","doi-asserted-by":"crossref","DOI":"10.1201\/9781315370279","volume-title":"Generalized Additive Models: An Introduction with R","author":"Wood","year":"2017"},{"key":"2022121312395600300_DMM049651C96","doi-asserted-by":"publisher","first-page":"119","DOI":"10.3389\/fncel.2015.00119","article-title":"Adapting for endocytosis: roles for endocytic sorting adaptors in directing neural development","volume":"9","author":"Yap","year":"2015","journal-title":"Front. Cell Neurosci."}],"container-title":["Disease Models &amp; Mechanisms"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.biologists.com\/dmm\/article-pdf\/doi\/10.1242\/dmm.049651\/2357890\/dmm049651.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/journals.biologists.com\/dmm\/article-pdf\/doi\/10.1242\/dmm.049651\/2375201\/dmm049651.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/journals.biologists.com\/dmm\/article-pdf\/doi\/10.1242\/dmm.049651\/2375201\/dmm049651.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,13]],"date-time":"2022-12-13T07:40:22Z","timestamp":1670917222000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.biologists.com\/dmm\/article\/15\/12\/dmm049651\/285933\/Lysosomal-alterations-and-decreased"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,1]]},"references-count":96,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12,1]]}},"URL":"https:\/\/doi.org\/10.1242\/dmm.049651","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2022.04.28.489465","asserted-by":"object"}]},"ISSN":["1754-8403","1754-8411"],"issn-type":[{"value":"1754-8403","type":"print"},{"value":"1754-8411","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,1]]},"article-number":"dmm049651"}}