{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T06:21:15Z","timestamp":1792131675555,"version":"4.4.0"},"reference-count":93,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T00:00:00Z","timestamp":1764806400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008731","name":"European Leukodystrophies Association","doi-asserted-by":"publisher","award":["2024-002C4A"],"award-info":[{"award-number":["2024-002C4A"]}],"id":[{"id":"10.13039\/501100008731","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["PE_00000019"],"award-info":[{"award-number":["PE_00000019"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["CUP I83C22001830006"],"award-info":[{"award-number":["CUP I83C22001830006"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["GR-2021-12373946"],"award-info":[{"award-number":["GR-2021-12373946"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["ISS5x1000_21-949432e8c9be"],"award-info":[{"award-number":["ISS5x1000_21-949432e8c9be"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100024370","name":"Ministero dell&apos;Istruzione dell&apos;Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100024370","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004008","name":"Istituto Superiore di Sanit\u00e0","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004008","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurobiology of Disease"],"published-print":{"date-parts":[[2026,1]]},"DOI":"10.1016\/j.nbd.2025.107218","type":"journal-article","created":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T00:23:30Z","timestamp":1765239810000},"page":"107218","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["Astrocytes differentiated from patient iPSCs model the rare leukodystrophy MLC and uncover disease-linked maturation defects and Kir4.1 channel dysfunction"],"prefix":"10.1016","volume":"218","author":[{"given":"Angela","family":"Lanciotti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Stefania","family":"Brignone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"De Nuccio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Sposito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena Sofia","family":"Caprini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcello","family":"Belfiore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Nicita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Veroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Meloni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosalba","family":"Carrozzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Rizza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Aiello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacopo","family":"Sartorelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Visentin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Ambrosini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nbd.2025.107218_bb0005","doi-asserted-by":"crossref","first-page":"233","DOI":"10.12688\/f1000research.22405.1","article-title":"Astrocytogenesis: where, when, and how","volume":"9","author":"Akdemir","year":"2020","journal-title":"F1000Res"},{"key":"10.1016\/j.nbd.2025.107218_bb0010","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1016\/j.mcn.2007.11.003","article-title":"Biochemical characterization of MLC1 protein in astrocytes and its association with the dystrophin\u2013glycoprotein complex","volume":"37","author":"Ambrosini","year":"2008","journal-title":"Mol. Cell. Neurosci."},{"key":"10.1016\/j.nbd.2025.107218_bb0015","doi-asserted-by":"crossref","first-page":"2008","DOI":"10.4103\/NRR.NRR-D-24-00471","article-title":"Calcium-sensitive protein MLC1 as a possible modulator of the astrocyte functional state","volume":"20","author":"Ambrosini","year":"2025","journal-title":"Neural Regen. Res."},{"key":"10.1016\/j.nbd.2025.107218_bb0020","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/j.braindev.2017.01.001","article-title":"Childhood leukodystrophies: a literature review of updates on new definitions, classification, diagnostic approach and management","volume":"39","author":"Ashrafi","year":"2017","journal-title":"Brain Dev."},{"key":"10.1016\/j.nbd.2025.107218_bb0025","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/nn.4201","article-title":"Astrocyte calcium signaling: the third wave","volume":"19","author":"Bazargani","year":"2016","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.nbd.2025.107218_bb0030","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1016\/j.neuroscience.2009.12.017","article-title":"Water transport between CNS compartments: functional and molecular interactions between aquaporins and ion channels","volume":"168","author":"Benfenati","year":"2010","journal-title":"Neuroscience"},{"key":"10.1016\/j.nbd.2025.107218_bb0035","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1093\/jnen\/64.5.412","article-title":"MLC1: a novel protein in distal astroglial processes","volume":"64","author":"Boor","year":"2005","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.nbd.2025.107218_bb0040","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1007\/s00401-007-0247-0","article-title":"MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet","volume":"114","author":"Boor","year":"2007","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.nbd.2025.107218_bb0045","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1186\/s12943-023-01835-6","article-title":"Local delivery of hrBMP4 as an anticancer therapy in patients with recurrent glioblastoma: a first-in-human phase 1 dose escalation trial","volume":"22","author":"Bos","year":"2023","journal-title":"Mol. Cancer"},{"key":"10.1016\/j.nbd.2025.107218_bb0050","doi-asserted-by":"crossref","first-page":"1434","DOI":"10.1016\/j.ymthe.2025.02.046","article-title":"Gene therapy rescues brain edema and motor function in a mouse model of megalencephalic leukoencephalopathy with subcortical cysts","volume":"33","author":"Brao","year":"2025","journal-title":"Mol. Ther."},{"key":"10.1016\/j.nbd.2025.107218_bb0055","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1093\/hmg\/ddq435","article-title":"The \u03b21 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis","volume":"20","author":"Brignone","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2025.107218_bb0060","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.nbd.2014.02.003","article-title":"Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesis","volume":"66","author":"Brignone","year":"2014","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.nbd.2025.107218_bb0065","doi-asserted-by":"crossref","DOI":"10.3389\/fncel.2015.00106","article-title":"MLC1 protein: a likely link between leukodystrophies and brain channelopathies","volume":"09","author":"Brignone","year":"2015","journal-title":"Front. Cell. Neurosci."},{"key":"10.1016\/j.nbd.2025.107218_bb0070","doi-asserted-by":"crossref","first-page":"8237","DOI":"10.1007\/s12035-019-01657-y","article-title":"Megalencephalic leukoencephalopathy with subcortical cysts protein-1 (MLC1) counteracts astrocyte activation in response to inflammatory signals","volume":"56","author":"Brignone","year":"2019","journal-title":"Mol. Neurobiol."},{"key":"10.1016\/j.nbd.2025.107218_bb0075","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.3390\/cells11172656","article-title":"The CaMKII\/MLC1 axis confers Ca2+-dependence to volume-regulated anion channels (VRAC) in astrocytes","volume":"11","author":"Brignone","year":"2022","journal-title":"Cells"},{"key":"10.1016\/j.nbd.2025.107218_bb0080","doi-asserted-by":"crossref","DOI":"10.1016\/j.nbd.2023.106388","article-title":"Megalencephalic leukoencephalopathy with subcortical cysts protein-1: a new calcium-sensitive protein functionally activated by endoplasmic reticulum calcium release and calmodulin binding in astrocytes","volume":"190","author":"Brignone","year":"2024","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.nbd.2025.107218_bb0085","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1007\/s00401-021-02391-3","article-title":"Heterogeneity of white matter astrocytes in the human brain","volume":"143","author":"Bugiani","year":"2022","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.nbd.2025.107218_bb0090","doi-asserted-by":"crossref","first-page":"4405","DOI":"10.1093\/hmg\/ddt290","article-title":"Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents","volume":"22","author":"Capdevila-Nortes","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2025.107218_bb0095","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1007\/s00415-023-11996-5","article-title":"Update on leukodystrophies and developing trials","volume":"271","author":"Ceravolo","year":"2024","journal-title":"J. Neurol."},{"key":"10.1016\/j.nbd.2025.107218_bb0100","doi-asserted-by":"crossref","first-page":"15769","DOI":"10.1523\/JNEUROSCI.2078-10.2010","article-title":"Implication of Kir 4.1 channel in excess potassium clearance: an in vivo study on anesthetized glial-conditional Kir 4.1 knock-out mice","volume":"30","author":"Chever","year":"2010","journal-title":"J. Neurosci."},{"key":"10.1016\/j.nbd.2025.107218_bb0105","doi-asserted-by":"crossref","DOI":"10.1212\/NXI.0000000000200374","article-title":"Modulator of VRAC current 1 is a potential target antigen in multiple sclerosis","volume":"12","author":"Dahl","year":"2025","journal-title":"Neurol. Neuroimmunol. Neuroinflamm."},{"key":"10.1016\/j.nbd.2025.107218_bb0110","article-title":"Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene","volume":"47","author":"D\u2019Anzi","year":"2020","journal-title":"Stem Cell Res."},{"key":"10.1016\/j.nbd.2025.107218_bb0115","doi-asserted-by":"crossref","first-page":"11354","DOI":"10.1523\/JNEUROSCI.0723-07.2007","article-title":"Conditional knock-out of Kir 4.1 leads to glial membrane depolarization, inhibition of potassium and glutamate uptake, and enhanced short-term synaptic potentiation","volume":"27","author":"Djukic","year":"2007","journal-title":"J. Neurosci."},{"key":"10.1016\/j.nbd.2025.107218_bb0120","doi-asserted-by":"crossref","first-page":"3728","DOI":"10.1093\/hmg\/ddn269","article-title":"Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects","volume":"17","author":"Duarri","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2025.107218_bb0125","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/j.nbd.2011.03.015","article-title":"Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model","volume":"43","author":"Duarri","year":"2011","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.nbd.2025.107218_bb0130","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1002\/ana.24307","article-title":"Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle","volume":"77","author":"Dubey","year":"2015","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.nbd.2025.107218_bb0135","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1002\/ana.25190","article-title":"Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts","volume":"83","author":"Dubey","year":"2018","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.nbd.2025.107218_bb0140","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.nbd.2018.07.031","article-title":"GlialCAM\/MLC1 modulates LRRC8\/VRAC currents in an indirect manner: implications for megalencephalic leukoencephalopathy","volume":"119","author":"Elorza-Vidal","year":"2018","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.nbd.2025.107218_bb0145","doi-asserted-by":"crossref","first-page":"5649","DOI":"10.1111\/ejn.14780","article-title":"Astrocytes of the early postnatal brain","volume":"54","author":"Felix","year":"2021","journal-title":"Eur. J. Neurosci."},{"key":"10.1016\/j.nbd.2025.107218_bb0150","doi-asserted-by":"crossref","DOI":"10.1002\/jimd.12832","article-title":"Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell-derived astrocytes from adrenoleukodystrophy patients","volume":"48","author":"Ferrer","year":"2025","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.nbd.2025.107218_bb0155","doi-asserted-by":"crossref","DOI":"10.15252\/embr.201947734","article-title":"Targeting of early endosomes by autophagy facilitates EGFR recycling and signalling","volume":"20","author":"Fraser","year":"2019","journal-title":"EMBO Rep."},{"key":"10.1016\/j.nbd.2025.107218_bb0160","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1038\/s41419-018-0737-0","article-title":"Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy","volume":"9","author":"Frati","year":"2018","journal-title":"Cell Death Dis."},{"key":"10.1016\/j.nbd.2025.107218_bb0165","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.0000000000005334","article-title":"Megalencephalic leukoencephalopathy with subcortical cysts: characterization of disease variants","volume":"90","author":"Hamilton","year":"2018","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2025.107218_bb0170","doi-asserted-by":"crossref","first-page":"1668","DOI":"10.1002\/glia.20574","article-title":"Role of Kir4.1 channels in growth control of glia","volume":"55","author":"Higashimori","year":"2007","journal-title":"Glia"},{"key":"10.1016\/j.nbd.2025.107218_bb0175","doi-asserted-by":"crossref","first-page":"3475","DOI":"10.1038\/ncomms4475","article-title":"Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction","volume":"5","author":"Hoegg-Beiler","year":"2014","journal-title":"Nat. Commun."},{"key":"10.1016\/j.nbd.2025.107218_bb0180","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1186\/s13041-019-0540-6","article-title":"Plasma membrane localization of MLC1 regulates cellular morphology and motility","volume":"12","author":"Hwang","year":"2019","journal-title":"Mol. Brain"},{"key":"10.1016\/j.nbd.2025.107218_bb0185","doi-asserted-by":"crossref","DOI":"10.1098\/rsob.210103","article-title":"Transmembrane topology and oligomeric nature of an astrocytic membrane protein, MLC1","volume":"11","author":"Hwang","year":"2021","journal-title":"Open Biol."},{"key":"10.1016\/j.nbd.2025.107218_bb0190","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1159\/000047817","article-title":"External Cl\u2212-dependent formation of watery vacuoles by long-term hypotonic shock in 3T3-L1 cells","volume":"11","author":"Iwasa","year":"2001","journal-title":"Cell. Physiol. Biochem."},{"key":"10.1016\/j.nbd.2025.107218_bb0195","series-title":"Retinal Degenerative Diseases, Advances in Experimental Medicine and Biology","first-page":"335","article-title":"Early endosome morphology in health and disease","author":"Kaur","year":"2018"},{"key":"10.1016\/j.nbd.2025.107218_bb0200","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1124\/mol.118.112359","article-title":"Discovery, characterization, and effects on renal fluid and electrolyte excretion of the Kir4.1 potassium channel pore blocker, VU0134992","volume":"94","author":"Kharade","year":"2018","journal-title":"Mol. Pharmacol."},{"key":"10.1016\/j.nbd.2025.107218_bb0205","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1016\/j.neuroscience.2004.06.008","article-title":"Potassium buffering in the central nervous system","volume":"129","author":"Kofuji","year":"2004","journal-title":"Neuroscience"},{"key":"10.1016\/j.nbd.2025.107218_bb0210","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/s40478-016-0337-0","article-title":"Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes","volume":"4","author":"Kondo","year":"2016","journal-title":"Acta Neuropathol. Commun."},{"key":"10.1016\/j.nbd.2025.107218_bb0215","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/j.nbd.2009.11.008","article-title":"MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation","volume":"37","author":"Lanciotti","year":"2010","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.nbd.2025.107218_bb0220","doi-asserted-by":"crossref","first-page":"2166","DOI":"10.1093\/hmg\/dds032","article-title":"Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations","volume":"21","author":"Lanciotti","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2025.107218_bb0225","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.1093\/hmg\/ddw032","article-title":"Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes","volume":"25","author":"Lanciotti","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2025.107218_bb0230","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.3390\/cells9061425","article-title":"Megalencephalic leukoencephalopathy with subcortical cysts disease-linked MLC1 protein favors gap-junction intercellular communication by regulating connexin 43 trafficking in astrocytes","volume":"9","author":"Lanciotti","year":"2020","journal-title":"Cells"},{"key":"10.1016\/j.nbd.2025.107218_bb0235","doi-asserted-by":"crossref","first-page":"274","DOI":"10.3390\/ijms23010274","article-title":"Human iPSC-derived astrocytes: a powerful tool to study primary astrocyte dysfunction in the pathogenesis of rare leukodystrophies","volume":"23","author":"Lanciotti","year":"2021","journal-title":"IJMS"},{"key":"10.1016\/j.nbd.2025.107218_bb0240","doi-asserted-by":"crossref","first-page":"4335","DOI":"10.1038\/s41467-021-24624-5","article-title":"Extensive transcriptional and chromatin changes underlie astrocyte maturation in vivo and in culture","volume":"12","author":"Lattke","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.nbd.2025.107218_bb0245","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1002\/ana.25585","article-title":"Astrocyte subtype vulnerability in stem cell models of vanishing white matter","volume":"86","author":"Leferink","year":"2019","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.nbd.2025.107218_bb0250","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.cellsig.2017.04.012","article-title":"The roles of subcellularly located EGFR in autophagy","volume":"35","author":"Li","year":"2017","journal-title":"Cell. Signal."},{"key":"10.1016\/j.nbd.2025.107218_bb0255","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.stem.2018.07.009","article-title":"GFAP mutations in astrocytes impair oligodendrocyte progenitor proliferation and myelination in an hiPSC model of Alexander disease","volume":"23","author":"Li","year":"2018","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.nbd.2025.107218_bb0260","doi-asserted-by":"crossref","first-page":"1571","DOI":"10.1002\/glia.23630","article-title":"Astrocyte-to-astrocyte contact and a positive feedback loop of growth factor signaling regulate astrocyte maturation","volume":"67","author":"Li","year":"2019","journal-title":"Glia"},{"key":"10.1016\/j.nbd.2025.107218_bb0265","doi-asserted-by":"crossref","first-page":"3958","DOI":"10.1038\/s41467-021-24232-3","article-title":"Conservation and divergence of vulnerability and responses to stressors between human and mouse astrocytes","volume":"12","author":"Li","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.nbd.2025.107218_bb0270","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0271360","article-title":"Human iPSC-derived astrocytes generated from donors with globoid cell leukodystrophy display phenotypes associated with disease","volume":"17","author":"Lieberman","year":"2022","journal-title":"PLoS One"},{"key":"10.1016\/j.nbd.2025.107218_bb0275","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.ajhg.2011.02.009","article-title":"Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism","volume":"88","author":"L\u00f3pez-Hern\u00e1ndez","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.nbd.2025.107218_bb0280","doi-asserted-by":"crossref","first-page":"7316","DOI":"10.1523\/JNEUROSCI.17-19-07316.1997","article-title":"Electrophysiological changes that accompany reactive gliosis in vitro","volume":"17","author":"MacFarlane","year":"1997","journal-title":"J. Neurosci."},{"key":"10.1016\/j.nbd.2025.107218_bb0285","doi-asserted-by":"crossref","DOI":"10.3389\/fncel.2024.1440555","article-title":"Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes","volume":"18","author":"Magliocca","year":"2024","journal-title":"Front. Cell. Neurosci."},{"key":"10.1016\/j.nbd.2025.107218_bb0290","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2023.1063843","article-title":"Astrocyte development\u2014more questions than answers","volume":"11","author":"Markey","year":"2023","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.nbd.2025.107218_bb0295","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1080\/15548627.2021.2021497","article-title":"RABEP1\/Rabaptin5: a link between autophagy and early endosome homeostasis","volume":"18","author":"Millarte","year":"2022","journal-title":"Autophagy"},{"key":"10.1016\/j.nbd.2025.107218_bb0300","series-title":"GeneReviews\u00ae","article-title":"Megalencephalic leukoencephalopathy with subcortical cysts","author":"Min","year":"1993"},{"key":"10.1016\/j.nbd.2025.107218_bb0305","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1038\/ncb0910-823","article-title":"Autophagy in mammalian development and differentiation","volume":"12","author":"Mizushima","year":"2010","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.nbd.2025.107218_bb0310","doi-asserted-by":"crossref","first-page":"5429","DOI":"10.1523\/JNEUROSCI.21-15-05429.2001","article-title":"Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination","volume":"21","author":"Neusch","year":"2001","journal-title":"J. Neurosci."},{"key":"10.1016\/j.nbd.2025.107218_bb0315","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00401-016-1553-1","article-title":"The role of glial-specific Kir4.1 in normal and pathological states of the CNS","volume":"132","author":"Nwaobi","year":"2016","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.nbd.2025.107218_bb0320","article-title":"Emerging roles of astrocyte Kir4.1 channels in the pathogenesis and treatment of brain diseases","volume":"22","author":"Ohno","year":"2021","journal-title":"IJMS"},{"key":"10.1016\/j.nbd.2025.107218_bb0325","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1111\/j.1471-4159.2008.05615.x","article-title":"Functional implications for Kir4.1 channels in glial biology: from K+ buffering to cell differentiation","volume":"107","author":"Olsen","year":"2008","journal-title":"J. Neurochem."},{"key":"10.1016\/j.nbd.2025.107218_bb0330","first-page":"33","article-title":"Vacuolating megalencephalic leukoencephalopathy: 24 year follow-up of two siblings","volume":"20","author":"Pascual-Castroviejo","year":"2005","journal-title":"Neurologia"},{"key":"10.1016\/j.nbd.2025.107218_bb0335","doi-asserted-by":"crossref","first-page":"3444","DOI":"10.1093\/brain\/awad146","article-title":"Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema","volume":"146","author":"Passchier","year":"2023","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2025.107218_bb0340","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2024.1352947","article-title":"Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature","volume":"15","author":"Passchier","year":"2024","journal-title":"Front. Genet."},{"key":"10.1016\/j.nbd.2025.107218_bb0345","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.mcn.2013.07.001","article-title":"Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts","volume":"56","author":"Petrini","year":"2013","journal-title":"Mol. Cell. Neurosci."},{"key":"10.1016\/j.nbd.2025.107218_bb0350","doi-asserted-by":"crossref","first-page":"3342","DOI":"10.1093\/brain\/awr255","article-title":"Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation","volume":"134","author":"Ridder","year":"2011","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2025.107218_bb0355","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/s41576-019-0100-z","article-title":"Induced pluripotent stem cells in disease modelling and drug discovery","volume":"20","author":"Rowe","year":"2019","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.nbd.2025.107218_bb0360","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/glia.10304","article-title":"The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain","volume":"44","author":"Schmitt","year":"2003","journal-title":"Glia"},{"key":"10.1016\/j.nbd.2025.107218_bb0365","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0110668","article-title":"BMP signaling in astrocytes downregulates EGFR to modulate survival and maturation","volume":"9","author":"Scholze","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.nbd.2025.107218_bb0370","doi-asserted-by":"crossref","first-page":"4697","DOI":"10.1073\/pnas.1300398110","article-title":"Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy","volume":"110","author":"Serio","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.nbd.2025.107218_bb0375","series-title":"MLC1 Alteration in iPSCs Give Rise to Disease-Like Cellular Vacuolation Phenotype in the Astrocyte Lineage","author":"Sharma","year":"2025"},{"key":"10.1016\/j.nbd.2025.107218_bb0380","doi-asserted-by":"crossref","DOI":"10.1038\/srep34325","article-title":"Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy","volume":"6","author":"Sicca","year":"2016","journal-title":"Sci. Rep."},{"key":"10.1016\/j.nbd.2025.107218_bb0385","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/0887-8994(96)00048-3","article-title":"Megalencephalic leukodystrophy in an Asian Indian ethnic group","volume":"14","author":"Singhal","year":"1996","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.nbd.2025.107218_bb0390","doi-asserted-by":"crossref","first-page":"2436","DOI":"10.1093\/hmg\/ddx134","article-title":"Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy","volume":"26","author":"Sirisi","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2025.107218_bb0395","doi-asserted-by":"crossref","first-page":"84","DOI":"10.4161\/auto.1.2.1697","article-title":"Lysosomal turnover, but not a cellular level, of endogenous LC3 is a marker for autophagy","volume":"1","author":"Tanida","year":"2005","journal-title":"Autophagy"},{"key":"10.1016\/j.nbd.2025.107218_bb0400","doi-asserted-by":"crossref","first-page":"2581","DOI":"10.1093\/hmg\/ddh291","article-title":"Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts","volume":"13","author":"Teijido","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2025.107218_bb0405","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1007\/s00401-017-1739-1","article-title":"Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms","volume":"134","author":"Van Der Knaap","year":"2017","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.nbd.2025.107218_bb0410","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1007\/s004010050510","article-title":"Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course","volume":"92","author":"van der Knaap","year":"1996","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.nbd.2025.107218_bb0415","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/S1474-4422(12)70192-8","article-title":"Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis","volume":"11","author":"van der Knaap","year":"2012","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.nbd.2025.107218_bb0420","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1038\/s41392-023-01628-9","article-title":"Astrocytes in human central nervous system diseases: a frontier for new therapies","volume":"8","author":"Verkhratsky","year":"2023","journal-title":"Signal Transduct. Target. Ther."},{"key":"10.1016\/j.nbd.2025.107218_bb0425","doi-asserted-by":"crossref","first-page":"2494","DOI":"10.1007\/s12015-022-10376-2","article-title":"Generation of human iPSC-derived astrocytes with a mature star-shaped phenotype for CNS modeling","volume":"18","author":"Voulgaris","year":"2022","journal-title":"Stem Cell Rev. Rep."},{"key":"10.1016\/j.nbd.2025.107218_bb0430","first-page":"C710","article-title":"Kcnj10 is a major type of K+ channel in mouse corneal epithelial cells and plays a role in initiating EGFR signaling","volume":"307","author":"Wang","year":"2014","journal-title":"Am. J. Phys. Cell Phys."},{"key":"10.1016\/j.nbd.2025.107218_bb0435","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1002\/glia.20391","article-title":"The developmental expression of K+ channels in retinal glial cells is associated with a decrease of osmotic cell swelling","volume":"54","author":"Wurm","year":"2006","journal-title":"Glia"},{"key":"10.1016\/j.nbd.2025.107218_bb0440","article-title":"Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts","volume":"7","author":"Xie","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.nbd.2025.107218_bb0445","doi-asserted-by":"crossref","first-page":"862","DOI":"10.5966\/sctm.2013-0080","article-title":"Efficient and rapid derivation of primitive neural stem cells and generation of brain subtype neurons from human pluripotent stem cells","volume":"2","author":"Yan","year":"2013","journal-title":"Stem Cells Transl. Med."},{"key":"10.1016\/j.nbd.2025.107218_bb0450","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1111\/j.1471-4159.2011.07446.x","article-title":"Blocking epidermal growth factor receptor attenuates reactive astrogliosis through inhibiting cell cycle progression and protects against ischemic brain injury in rats","volume":"119","author":"Yang","year":"2011","journal-title":"J. Neurochem."},{"key":"10.1016\/j.nbd.2025.107218_bb0455","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/1866-1955-5-22","article-title":"Developmental maturation of astrocytes and pathogenesis of neurodevelopmental disorders","volume":"5","author":"Yang","year":"2013","journal-title":"J. Neurodev. Disord."},{"key":"10.1016\/j.nbd.2025.107218_bb0460","doi-asserted-by":"crossref","DOI":"10.1111\/cns.70240","article-title":"Morphological characteristics and extracellular matrix abnormalities in astrocytes derived from iPSCs of children with Alexander disease","volume":"31","author":"Yi","year":"2025","journal-title":"CNS Neurosci. Ther."},{"key":"10.1016\/j.nbd.2025.107218_bb0465","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.neuron.2015.11.013","article-title":"Purification and characterization of progenitor and mature human astrocytes reveals transcriptional and functional differences with mouse","volume":"89","author":"Zhang","year":"2016","journal-title":"Neuron"}],"container-title":["Neurobiology of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996125004358?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996125004358?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T08:57:16Z","timestamp":1778576236000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0969996125004358"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":93,"alternative-id":["S0969996125004358"],"URL":"https:\/\/doi.org\/10.1016\/j.nbd.2025.107218","relation":{},"ISSN":["0969-9961"],"issn-type":[{"value":"0969-9961","type":"print"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Astrocytes differentiated from patient iPSCs model the rare leukodystrophy MLC and uncover disease-linked maturation defects and Kir4.1 channel dysfunction","name":"articletitle","label":"Article Title"},{"value":"Neurobiology of Disease","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nbd.2025.107218","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"107218"}}