{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:26:59Z","timestamp":1791293219185,"version":"4.1.0"},"reference-count":33,"publisher":"Oxford University Press (OUP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2009,3]]},"DOI":"10.1093\/brain\/awn366","type":"journal-article","created":{"date-parts":[[2009,2,7]],"date-time":"2009-02-07T03:58:25Z","timestamp":1233979105000},"page":"810-819","source":"Crossref","is-referenced-by-count":135,"title":["Mutations in CLN7\/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis"],"prefix":"10.1093","volume":"132","author":[{"given":"Maria","family":"Kousi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eija","family":"Siintola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenka","family":"Dvorakova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"Vlaskova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Turnbull","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meral","family":"Topcu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deniz","family":"Yuksel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarenur","family":"Gokben","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berge A.","family":"Minassian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milan","family":"Elleder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara E.","family":"Mole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna-Elina","family":"Lehesjoki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2009,2,5]]},"reference":[{"key":"key\n\t\t\t\t20170425172833_B1","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/s10048-005-0024-y","article-title":"Novel mutations in CLN8 in italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the mediterranean","volume":"7","author":"Cannelli","year":"2006","journal-title":"Neurogenetics"},{"key":"key\n\t\t\t\t20170425172833_B2","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nrg775","article-title":"Listening to silence and understanding nonsense: Exonic mutations that affect splicing","volume":"3","author":"Cartegni","year":"2002","journal-title":"Nat Rev Genet"},{"key":"key\n\t\t\t\t20170425172833_B3","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/S1090-3798(97)80041-4","article-title":"Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the \u2018Prague NCL group\u2019","volume":"1","author":"Elleder","year":"1997","journal-title":"Eur J Pediatr Neurol"},{"key":"key\n\t\t\t\t20170425172833_B4","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/s00401-008-0426-7","article-title":"Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10)","volume":"117","author":"Fritchie","year":"2009","journal-title":"Acta Neuropathol"},{"key":"key\n\t\t\t\t20170425172833_B5","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1086\/338190","article-title":"Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse","volume":"70","author":"Gao","year":"2002","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170425172833_B6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/jnen\/62.1.1","article-title":"The neuronal ceroid-lipofuscinoses","volume":"62","author":"Haltia","year":"2003","journal-title":"J Neuropathol Exp Neurol"},{"key":"key\n\t\t\t\t20170425172833_B7","doi-asserted-by":"crossref","first-page":"22347","DOI":"10.1074\/jbc.M400643200","article-title":"Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A","volume":"279","author":"Heine","year":"2004","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t20170425172833_B8","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/S0092-8674(00)80542-5","article-title":"A perfect message: RNA surveillance and nonsense-mediated decay","volume":"96","author":"Hentze","year":"1999","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170425172833_B9","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1136\/jmg.31.3.177","article-title":"Northern epilepsy syndrome: An inherited childhood onset epilepsy with associated mental deterioration","volume":"31","author":"Hirvasniemi","year":"1994","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t20170425172833_B10","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.nbd.2003.12.019","article-title":"The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain","volume":"16","author":"Holmberg","year":"2004","journal-title":"Neurobiol Dis"},{"key":"key\n\t\t\t\t20170425172833_B11","doi-asserted-by":"crossref","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":"International Batten Disease Consortium","year":"1995","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170425172833_B12","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1093\/hmg\/11.8.885","article-title":"Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein","volume":"11","author":"Isosomppi","year":"2002","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20170425172833_B13","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1093\/hmg\/7.1.85","article-title":"Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease","volume":"7","author":"J\u00e4rvel\u00e4","year":"1998","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20170425172833_B14","doi-asserted-by":"crossref","first-page":"1691","DOI":"10.1093\/hmg\/9.11.1691","article-title":"The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum","volume":"9","author":"Lonka","year":"2000","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20170425172833_B15","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s10048-005-0218-3","article-title":"Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses","volume":"6","author":"Mole","year":"2005","journal-title":"Neurogenetics"},{"key":"key\n\t\t\t\t20170425172833_B16","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1016\/j.yexcr.2004.04.042","article-title":"CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein","volume":"298","author":"Mole","year":"2004","journal-title":"Exp Cell Res"},{"key":"key\n\t\t\t\t20170425172833_B17","doi-asserted-by":"crossref","first-page":"13854","DOI":"10.1073\/pnas.0606137103","article-title":"Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6","volume":"103","author":"Poet","year":"2006","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20170425172833_B18","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1002\/humu.20018","article-title":"Variant late infantile neuronal ceroid lipofuscinosis in a subset of turkish patients is allelic to northern epilepsy","volume":"23","author":"Ranta","year":"2004","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20170425172833_B19","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/13868","article-title":"The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8","volume":"23","author":"Ranta","year":"1999","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20170425172833_B20","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1055\/s-2008-1059612","article-title":"A variant of Jansky-Bielschowsky disease","volume":"13","author":"Santavuori","year":"1982","journal-title":"Neuropediatrics"},{"key":"key\n\t\t\t\t20170425172833_B21","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1002\/ana.20187","article-title":"Impaired cell adhesion and apoptosis in a novel CLN9 batten disease variant","volume":"56","author":"Schulz","year":"2004","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20170425172833_B22","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/humu.10227","article-title":"Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis","volume":"22","author":"Sharp","year":"2003","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20170425172833_B23","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1006\/mgme.1999.2806","article-title":"Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23","volume":"66","author":"Sharp","year":"1999","journal-title":"Mol Genet Metab"},{"key":"key\n\t\t\t\t20170425172833_B24","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1093\/hmg\/6.4.591","article-title":"Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23","volume":"6","author":"Sharp","year":"1997","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20170425172833_B25","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1086\/518902","article-title":"The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter","volume":"81","author":"Siintola","year":"2007","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170425172833_B26","doi-asserted-by":"crossref","first-page":"1438","DOI":"10.1093\/brain\/awl107","article-title":"Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis","volume":"129","author":"Siintola","year":"2006","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170425172833_B27","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1111\/j.1399-0004.2005.00471.x","article-title":"Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of turkish origin","volume":"68","author":"Siintola","year":"2005","journal-title":"Clin Genet"},{"key":"key\n\t\t\t\t20170425172833_B28","doi-asserted-by":"crossref","first-page":"1802","DOI":"10.1126\/science.277.5333.1802","article-title":"Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis","volume":"277","author":"Sleat","year":"1997","journal-title":"Science"},{"key":"key\n\t\t\t\t20170425172833_B29","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1086\/504159","article-title":"Cathepsin D deficiency is associated with a human neurodegenerative disorder","volume":"78","author":"Steinfeld","year":"2006","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170425172833_B30","first-page":"1","article-title":"Evaluation of 36 patients from turkey with neuronal ceroid lipofuscinosis: Clinical, neurophysiological, neuroradiological and histopathologic studies","volume":"46","author":"Topcu","year":"2004","journal-title":"Turk J Pediatr"},{"key":"key\n\t\t\t\t20170425172833_B31","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1038\/376584a0","article-title":"Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis","volume":"376","author":"Vesa","year":"1995","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170425172833_B32","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1086\/338708","article-title":"The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein","volume":"70","author":"Wheeler","year":"2002","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170425172833_B33","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1006\/mgme.1999.2804","article-title":"A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7","volume":"66","author":"Wheeler","year":"1999","journal-title":"Mol Genet Metab"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/132\/3\/810\/13794769\/awn366.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,22]],"date-time":"2017-08-22T16:50:35Z","timestamp":1503420635000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article-lookup\/doi\/10.1093\/brain\/awn366"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,5]]},"references-count":33,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2009,2,5]]},"published-print":{"date-parts":[[2009,3]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awn366","relation":{},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published":{"date-parts":[[2009,2,5]]}}}