{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T23:24:52Z","timestamp":1793316292054,"version":"4.5.0"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2005,2,10]],"date-time":"2005-02-10T00:00:00Z","timestamp":1107993600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2005,2,10]],"date-time":"2005-02-10T00:00:00Z","timestamp":1107993600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["EMBO J"],"published-print":{"date-parts":[[2005,3,9]]},"DOI":"10.1038\/sj.emboj.7600576","type":"journal-article","created":{"date-parts":[[2005,2,11]],"date-time":"2005-02-11T01:31:40Z","timestamp":1108085500000},"page":"1079-1091","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":329,"title":["Loss of the chloride channel ClC\u20107 leads to lysosomal storage disease and neurodegeneration"],"prefix":"10.1038","volume":"24","author":[{"given":"Dagmar","family":"Kasper","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Planells\u2010Cases","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens C","family":"Fuhrmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaf","family":"Scheel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Zeitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Ruether","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja","family":"Schmitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mallorie","family":"Po\u00ebt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Steinfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Schweizer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe","family":"Kornak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas J","family":"Jentsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2005,2,10]]},"reference":[{"key":"BFEMBJ7600576_CR1","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1038\/nature02314","volume":"427","author":"A Accardi","year":"2004","unstructured":"Accardi A, Miller C (2004) Secondary active transport mediated by a prokaryotic homologue of ClC Cl\u2212 channels. Nature 427: 803\u2013807","journal-title":"Nature"},{"key":"BFEMBJ7600576_CR2","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/0014-5793(95)01298-2","volume":"377","author":"S Brandt","year":"1995","unstructured":"Brandt S, Jentsch TJ (1995) ClC\u20106 and ClC\u20107 are two novel broadly expressed members of the CLC chloride channel family. FEBS Lett 377: 15\u201320","journal-title":"FEBS Lett"},{"key":"BFEMBJ7600576_CR3","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1007\/s00439-002-0861-9","volume":"112","author":"AB Campos\u2010Xavier","year":"2003","unstructured":"Campos\u2010Xavier AB, Saraiva JM, Ribeiro LM, Munnich A, Cormier\u2010Daire V (2003) Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis. Hum Genet 112: 186\u2013189","journal-title":"Hum Genet"},{"key":"BFEMBJ7600576_CR4","doi-asserted-by":"crossref","first-page":"2861","DOI":"10.1093\/hmg\/10.25.2861","volume":"10","author":"E Cleiren","year":"2001","unstructured":"Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, Beaverson K, Aledo A, Whyte MP, Yoneyama T, deVernejoul MC, Van Hul W (2001) Albers\u2013Sch\u00f6nberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet 10: 2861\u20132867","journal-title":"Hum Mol Genet"},{"key":"BFEMBJ7600576_CR5","doi-asserted-by":"crossref","first-page":"13641","DOI":"10.1073\/pnas.95.23.13641","volume":"95","author":"SR Davis\u2010Kaplan","year":"1998","unstructured":"Davis\u2010Kaplan SR, Askwith CC, Bengtzen AC, Radisky D, Kaplan J (1998) Chloride is an allosteric effector of copper assembly for the yeast multicopper oxidase Fet3p: an unexpected role for intracellular chloride channels. Proc Natl Acad Sci USA 95: 13641\u201313645","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFEMBJ7600576_CR6","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/S0006-8993(02)03519-9","volume":"958","author":"LW Dickerson","year":"2002","unstructured":"Dickerson LW, Bonthius DJ, Schutte BC, Yang B, Barna TJ, Bailey MC, Nehrke K, Williamson RA, Lamb FS (2002) Altered GABAergic function accompanies hippocampal degeneration in mice lacking ClC\u20103 voltage\u2010gated chloride channels. Brain Res 958: 227\u2013250","journal-title":"Brain Res"},{"key":"BFEMBJ7600576_CR7","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/j.1750-3639.2004.tb00501.x","volume":"14","author":"J Ezaki","year":"2004","unstructured":"Ezaki J, Kominami E (2004) The intracellular location and function of proteins of neuronal ceroid lipofuscinoses. Brain Pathol 14: 77\u201385","journal-title":"Brain Pathol"},{"key":"BFEMBJ7600576_CR8","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/77131","volume":"25","author":"A Frattini","year":"2000","unstructured":"Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A (2000) Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 25: 343\u2013346","journal-title":"Nat Genet"},{"key":"BFEMBJ7600576_CR9","doi-asserted-by":"crossref","first-page":"1740","DOI":"10.1359\/jbmr.2003.18.10.1740","volume":"18","author":"A Frattini","year":"2003","unstructured":"Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A (2003) Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res 18: 1740\u20131747","journal-title":"J Bone Miner Res"},{"key":"BFEMBJ7600576_CR10","doi-asserted-by":"crossref","first-page":"5393","DOI":"10.1523\/JNEUROSCI.22-13-05393.2002","volume":"22","author":"JC Fuhrmann","year":"2002","unstructured":"Fuhrmann JC, Kins S, Rostaing P, El Far O, Kirsch J, Sheng M, Triller A, Betz H, Kneussel M (2002) Gephyrin interacts with Dynein light chains 1 and 2, components of motor protein complexes. J Neurosci 22: 5393\u20135402","journal-title":"J Neurosci"},{"key":"BFEMBJ7600576_CR11","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1016\/S0022-3476(05)82004-9","volume":"125","author":"EJ Gerritsen","year":"1994","unstructured":"Gerritsen EJ, Vossen JM, Fasth A, Friedrich W, Morgan G, Padmos A, Vellodi A, Porras O, O'Meara A, Porta F, Bordigoni P, Cant A, Hermans J, Griscelli C, Fischer A (1994) Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group. J Pediatr 125: 896\u2013902","journal-title":"J Pediatr"},{"key":"BFEMBJ7600576_CR12","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1111\/j.1750-3639.2004.tb00499.x","volume":"14","author":"HH Goebel","year":"2004","unstructured":"Goebel HH, Wisniewski KE (2004) Current state of clinical and morphological features in human NCL. Brain Pathol 14: 61\u201369","journal-title":"Brain Pathol"},{"key":"BFEMBJ7600576_CR13","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1007\/s00424-002-0950-6","volume":"445","author":"W G\u00fcnther","year":"2003","unstructured":"G\u00fcnther W, Piwon N, Jentsch TJ (2003) The ClC\u20105 chloride channel knock\u2010out mouse\u2014an animal model for Dent's disease. Pfl\u00fcgers Arch 445: 456\u2013462","journal-title":"Pfl\u00fcgers Arch"},{"key":"BFEMBJ7600576_CR14","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1074\/jbc.M407030200","volume":"280","author":"M Hara\u2010Chikuma","year":"2005","unstructured":"Hara\u2010Chikuma M, Yang B, Sonawane ND, Sasaki S, Uchida S, Verkman AS (2005) ClC\u20103 chloride channels facilitate endosomal acidification and chloride accumulation. J Biol Chem 280: 1241\u20131247","journal-title":"J Biol Chem"},{"key":"BFEMBJ7600576_CR15","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1126\/science.6505679","volume":"226","author":"GO Ivy","year":"1984","unstructured":"Ivy GO, Schottler F, Wenzel J, Baudry M, Lynch G (1984) Inhibitors of lysosomal enzymes: accumulation of lipofuscin\u2010like dense bodies in the brain. Science 226: 985\u2013987","journal-title":"Science"},{"key":"BFEMBJ7600576_CR16","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1152\/physrev.00029.2001","volume":"82","author":"TJ Jentsch","year":"2002","unstructured":"Jentsch TJ, Stein V, Weinreich F, Zdebik AA (2002) Molecular structure and physiological function of chloride channels. Physiol Rev 82: 503\u2013568","journal-title":"Physiol Rev"},{"key":"BFEMBJ7600576_CR17","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/1097-0223(200102)21:2<99::AID-PD988>3.0.CO;2-F","volume":"21","author":"WJ Kleijer","year":"2001","unstructured":"Kleijer WJ, van Diggelen OP, Keulemans JL, Losekoot M, Garritsen VH, Stroink H, Majoor\u2010Krakauer D, Franken PF, Eurlings MC, Taschner PE, Los FJ, Galjaard RJ (2001) First\u2010trimester diagnosis of late\u2010infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis. Prenat Diagn 21: 99\u2013101","journal-title":"Prenat Diagn"},{"key":"BFEMBJ7600576_CR18","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S0092-8674(01)00206-9","volume":"104","author":"U Kornak","year":"2001","unstructured":"Kornak U, Kasper D, B\u00f6sl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G, Jentsch TJ (2001) Loss of the ClC\u20107 chloride channel leads to osteopetrosis in mice and man. Cell 104: 205\u2013215","journal-title":"Cell"},{"key":"BFEMBJ7600576_CR19","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1093\/hmg\/9.13.2059","volume":"9","author":"U Kornak","year":"2000","unstructured":"Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T, Hasan C, Bode U, Jentsch TJ, Kubisch C (2000) Mutations in the a3 subunit of the vacuolar H+\u2010ATPase cause infantile malignant osteopetrosis. Hum Mol Genet 9: 2059\u20132063","journal-title":"Hum Mol Genet"},{"key":"BFEMBJ7600576_CR20","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1038\/70563","volume":"23","author":"YP Li","year":"1999","unstructured":"Li YP, Chen W, Liang Y, Li E, Stashenko P (1999) Atp6i\u2010deficient mice exhibit severe osteopetrosis due to loss of osteoclast\u2010mediated extracellular acidification. Nat Genet 23: 447\u2013451","journal-title":"Nat Genet"},{"key":"BFEMBJ7600576_CR21","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/379445a0","volume":"379","author":"SE Lloyd","year":"1996","unstructured":"Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV (1996) A common molecular basis for three inherited kidney stone diseases. Nature 379: 445\u2013449","journal-title":"Nature"},{"key":"BFEMBJ7600576_CR22","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1111\/j.1750-3639.2004.tb00502.x","volume":"14","author":"HM Mitchison","year":"2004","unstructured":"Mitchison HM, Lim MJ, Cooper JD (2004) Selectivity and types of cell death in the neuronal ceroid lipofuscinoses. Brain Pathol 14: 86\u201396","journal-title":"Brain Pathol"},{"key":"BFEMBJ7600576_CR23","doi-asserted-by":"crossref","first-page":"4751","DOI":"10.1242\/jcs.00791","volume":"116","author":"N Morel","year":"2003","unstructured":"Morel N, Dedieu JC, Philippe JM (2003) Specific sorting of the a1 isoform of the V\u2010H+ATPase a subunit to nerve terminals where it associates with both synaptic vesicles and the presynaptic plasma membrane. J Cell Sci 116: 4751\u20134762","journal-title":"J Cell Sci"},{"key":"BFEMBJ7600576_CR24","doi-asserted-by":"crossref","first-page":"6824","DOI":"10.1074\/jbc.275.10.6824","volume":"275","author":"T Nishi","year":"2000","unstructured":"Nishi T, Forgac M (2000) Molecular cloning and expression of three isoforms of the 100\u2010kDa a subunit of the mouse vacuolar proton\u2010translocating ATPase. J Biol Chem 275: 6824\u20136830","journal-title":"J Biol Chem"},{"key":"BFEMBJ7600576_CR25","doi-asserted-by":"crossref","first-page":"1902","DOI":"10.1073\/pnas.252784899","volume":"100","author":"K Ohmi","year":"2003","unstructured":"Ohmi K, Greenberg DS, Rajavel KS, Ryazantsev S, Li HH, Neufeld EF (2003) Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB. Proc Natl Acad Sci USA 100: 1902\u20131907","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFEMBJ7600576_CR26","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1002\/ajmg.1320420428","volume":"42","author":"DN Palmer","year":"1992","unstructured":"Palmer DN, Fearnley IM, Walker JE, Hall NA, Lake BD, Wolfe LS, Haltia M, Martinus RD, Jolly RD (1992) Mitochondrial ATP synthase subunit c storage in the ceroid\u2010lipofuscinoses (Batten disease). Am J Med Genet 42: 561\u2013567","journal-title":"Am J Med Genet"},{"key":"BFEMBJ7600576_CR27","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/35042597","volume":"408","author":"N Piwon","year":"2000","unstructured":"Piwon N, G\u00fcnther W, Schwake R, B\u00f6sl MR, Jentsch TJ (2000) ClC\u20105 Cl\u2212\u2010channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature 408: 369\u2013373","journal-title":"Nature"},{"key":"BFEMBJ7600576_CR28","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1007\/BF02815000","volume":"29","author":"VV Prasad","year":"1996","unstructured":"Prasad VV, Pullarkat RK (1996) Brain lysosomal hydrolases in neuronal ceroid\u2010lipofuscinoses. Mol Chem Neuropathol 29: 169\u2013179","journal-title":"Mol Chem Neuropathol"},{"key":"BFEMBJ7600576_CR29","first-page":"710","volume":"38","author":"K Ruether","year":"1997","unstructured":"Ruether K, van de Pol D, Jaissle G, Berger W, Tornow RP, Zrenner E (1997) Retinoschisislike alterations in the mouse eye caused by gene targeting of the Norrie disease gene. Invest Ophthalmol Vis Sci 38: 710\u2013718","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFEMBJ7600576_CR30","doi-asserted-by":"crossref","first-page":"2835","DOI":"10.1101\/gad.11.21.2835","volume":"11","author":"PL Schwartzberg","year":"1997","unstructured":"Schwartzberg PL, Xing L, Hoffmann O, Lowell CA, Garrett L, Boyce BF, Varmus HE (1997) Rescue of osteoclast function by transgenic expression of kinase\u2010deficient Src in src\u2212\/\u2212 mutant mice. Genes Dev 11: 2835\u20132844","journal-title":"Genes Dev"},{"key":"BFEMBJ7600576_CR31","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/S8756-3282(99)00278-1","volume":"26","author":"JC Scimeca","year":"2000","unstructured":"Scimeca JC, Franchi A, Trojani C, Parrinello H, Grosgeorge J, Robert C, Jaillon O, Poirier C, Gaudray P, Carle GF (2000) The gene encoding the mouse homologue of the human osteoclast\u2010specific 116\u2010kDa V\u2010ATPase subunit bears a deletion in osteosclerotic (oc\/oc) mutants. Bone 26: 207\u2013213","journal-title":"Bone"},{"key":"BFEMBJ7600576_CR32","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1172\/JCI19874","volume":"113","author":"JW Scott","year":"2004","unstructured":"Scott JW, Hawley SA, Green KA, Anis M, Stewart G, Scullion GA, Norman DG, Hardie DG (2004) CBS domains form energy\u2010sensing modules whose binding of adenosine ligands is disrupted by disease mutations. J Clin Invest 113: 274\u2013284","journal-title":"J Clin Invest"},{"key":"BFEMBJ7600576_CR33","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1042\/bj3340547","volume":"334","author":"DE Sleat","year":"1998","unstructured":"Sleat DE, Sohar I, Pullarkat PS, Lobel P, Pullarkat RK (1998) Specific alterations in levels of mannose 6\u2010phosphorylated glycoproteins in different neuronal ceroid lipofuscinoses. Biochem J 334: 547\u2013551","journal-title":"Biochem J"},{"key":"BFEMBJ7600576_CR34","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1046\/j.1365-2990.2003.00474.x","volume":"29","author":"CG Steward","year":"2003","unstructured":"Steward CG (2003) Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol 29: 87\u201397","journal-title":"Neuropathol Appl Neurobiol"},{"key":"BFEMBJ7600576_CR35","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/S0896-6273(01)00189-1","volume":"29","author":"SM Stobrawa","year":"2001","unstructured":"Stobrawa SM, Breiderhoff T, Takamori S, Engel D, Schweizer M, Zdebik AA, B\u00f6sl MR, Ruether K, Jahn H, Draguhn A, Jahn R, Jentsch TJ (2001) Disruption of ClC\u20103, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus. Neuron 29: 185\u2013196","journal-title":"Neuron"},{"key":"BFEMBJ7600576_CR36","doi-asserted-by":"crossref","first-page":"22023","DOI":"10.1074\/jbc.M302436200","volume":"278","author":"T Toyomura","year":"2003","unstructured":"Toyomura T, Murata Y, Yamamoto A, Oka T, Sun\u2010Wada GH, Wada Y, Futai M (2003) From lysosomes to the plasma membrane: localization of vacuolar\u2010type H+\u2010ATPase with the a3 isoform during osteoclast differentiation. J Biol Chem 278: 22023\u201322030","journal-title":"J Biol Chem"},{"key":"BFEMBJ7600576_CR37","doi-asserted-by":"crossref","first-page":"8760","DOI":"10.1074\/jbc.275.12.8760","volume":"275","author":"T Toyomura","year":"2000","unstructured":"Toyomura T, Oka T, Yamaguchi C, Wada Y, Futai M (2000) Three subunit a isoforms of mouse vacuolar H+\u2010ATPase. Preferential expression of the a3 isoform during osteoclast differentiation. J Biol Chem 275: 8760\u20138765","journal-title":"J Biol Chem"},{"key":"BFEMBJ7600576_CR38","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/0014-5793(93)80908-D","volume":"330","author":"J Tyynel\u00e4","year":"1993","unstructured":"Tyynel\u00e4 J, Palmer DN, Baumann M, Haltia M (1993) Storage of saposins A and D in infantile neuronal ceroid\u2010lipofuscinosis. FEBS Lett 330: 8\u201312","journal-title":"FEBS Lett"},{"key":"BFEMBJ7600576_CR39","doi-asserted-by":"crossref","first-page":"2786","DOI":"10.1093\/emboj\/19.12.2786","volume":"19","author":"J Tyynel\u00e4","year":"2000","unstructured":"Tyynel\u00e4 J, Sohar I, Sleat DE, Gin RM, Donnelly RJ, Baumann M, Haltia M, Lobel P (2000) A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration. EMBO J 19: 2786\u20132792","journal-title":"EMBO J"},{"key":"BFEMBJ7600576_CR40","doi-asserted-by":"crossref","first-page":"10954","DOI":"10.1073\/pnas.97.20.10954","volume":"97","author":"R Wada","year":"2000","unstructured":"Wada R, Tifft CJ, Proia RL (2000) Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation. Proc Natl Acad Sci USA 97: 10954\u201310959","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFEMBJ7600576_CR41","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1046\/j.1365-2443.2002.00539.x","volume":"7","author":"M Yoshikawa","year":"2002","unstructured":"Yoshikawa M, Uchida S, Ezaki J, Rai T, Hayama A, Kobayashi K, Kida Y, Noda M, Koike M, Uchiyama Y, Marumo F, Kominami E, Sasaki S (2002) CLC\u20103 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis. Genes Cells 7: 597\u2013605","journal-title":"Genes Cells"}],"container-title":["The EMBO Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1038%2Fsj.emboj.7600576","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1038\/sj.emboj.7600576.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1038\/sj.emboj.7600576","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1038\/sj.emboj.7600576","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1038\/sj.emboj.7600576.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T23:20:13Z","timestamp":1779232813000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1038\/sj.emboj.7600576"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,2,10]]},"references-count":41,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,3,9]]}},"alternative-id":["BFEMBJ7600576"],"URL":"https:\/\/doi.org\/10.1038\/sj.emboj.7600576","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.1024124.286740","asserted-by":"object"}]},"ISSN":["0261-4189","1460-2075"],"issn-type":[{"value":"0261-4189","type":"print"},{"value":"1460-2075","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,2,10]]},"assertion":[{"value":"13 September 2004","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 January 2005","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 February 2005","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}