{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T03:59:05Z","timestamp":1789444745753,"version":"build-2803163510"},"reference-count":47,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2005,2,1]],"date-time":"2005-02-01T00:00:00Z","timestamp":1107216000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biochemical and Biophysical Research Communications"],"published-print":{"date-parts":[[2005,2]]},"DOI":"10.1016\/j.bbrc.2004.12.038","type":"journal-article","created":{"date-parts":[[2004,12,22]],"date-time":"2004-12-22T01:33:48Z","timestamp":1103679228000},"page":"541-547","source":"Crossref","is-referenced-by-count":109,"title":["A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis"],"prefix":"10.1016","volume":"327","author":[{"given":"Martin L.","family":"Katz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahnawaz","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoyuki","family":"Awano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. Adam","family":"Shahid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aristotle N.","family":"Siakotos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary S.","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbrc.2004.12.038_bib1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0065-2660(01)45002-4","article-title":"Neuronal ceroid lipofuscinoses: classification and diagnosis","volume":"45","author":"Wisniewski","year":"2001","journal-title":"Adv. Genet."},{"key":"10.1016\/j.bbrc.2004.12.038_bib2","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1111\/j.1748-5827.1994.tb03290.x","article-title":"Canine ceroid-lipofuscinosis: a review and classification","volume":"35","author":"Jolly","year":"1994","journal-title":"J. Small Anim. Pract."},{"key":"10.1016\/j.bbrc.2004.12.038_bib3","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/ajmg.1320570240","article-title":"Comparative biology of the neuronal ceroid-lipofuscinoses (NCL): an overview","volume":"57","author":"Jolly","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bbrc.2004.12.038_bib4","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/S0140-6736(99)00173-7","article-title":"Batten\u2019s disease: eight genes and still counting?","volume":"354","author":"Mole","year":"1999","journal-title":"Lancet"},{"key":"10.1016\/j.bbrc.2004.12.038_bib5","doi-asserted-by":"crossref","first-page":"2786","DOI":"10.1093\/emboj\/19.12.2786","article-title":"A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration","volume":"19","author":"Tyynela","year":"2000","journal-title":"EMBO J."},{"key":"10.1016\/j.bbrc.2004.12.038_bib6","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1046\/j.1365-2443.2002.00539.x","article-title":"CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis","volume":"7","author":"Yoshikawa","year":"2002","journal-title":"Genes Cells"},{"key":"10.1016\/j.bbrc.2004.12.038_bib7","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1002\/(SICI)1097-4547(19990815)57:4<551::AID-JNR15>3.0.CO;2-R","article-title":"A mouse gene knockout model for juvenile ceroid-lipofuscinosis","volume":"57","author":"Katz","year":"1999","journal-title":"J. Neurosci. Res."},{"key":"10.1016\/j.bbrc.2004.12.038_bib8","doi-asserted-by":"crossref","first-page":"13566","DOI":"10.1073\/pnas.251485198","article-title":"Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice","volume":"98","author":"Gupta","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.bbrc.2004.12.038_bib9","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1006\/mgme.1999.2828","article-title":"A murine model for juvenile NCL: gene targeting of mouse Cln3","volume":"66","author":"Greene","year":"1999","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbrc.2004.12.038_bib10","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. Human Genet."},{"key":"10.1016\/j.bbrc.2004.12.038_bib11","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1086\/338708","article-title":"The gene mutated in variant late-infantile ceroid lipofuscinosis (CLN6) and in nclf mice encodes a novel predicted transmembrane protein","volume":"70","author":"Wheeler","year":"2002","journal-title":"Am. J. Human Genet."},{"key":"10.1016\/j.bbrc.2004.12.038_bib12","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":"10.1016\/j.bbrc.2004.12.038_bib13","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1006\/mcne.2001.1099","article-title":"Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease)","volume":"19","author":"Seigel","year":"2002","journal-title":"Mol. Cell. Neurosci."},{"key":"10.1016\/j.bbrc.2004.12.038_bib14","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/j.nbd.2004.03.005","article-title":"Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis","volume":"16","author":"Griffey","year":"2004","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.bbrc.2004.12.038_bib15","doi-asserted-by":"crossref","first-page":"3302","DOI":"10.1523\/JNEUROSCI.23-08-03302.2003","article-title":"Intravitreal gene therapy reduces lysosomal storage in specific areas of the CNS in mucopolysaccharidosis VII mice","volume":"23","author":"Hennig","year":"2003","journal-title":"J. Neurosci."},{"key":"10.1016\/j.bbrc.2004.12.038_bib16","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/ajmg.1320310616","article-title":"The English setter with ceroid-lipofuscinosis: a suitable model for the juvenile type of ceroid-lipofuscinosis","volume":"5","author":"Koppang","year":"1988","journal-title":"Am. J. Med. Genet. Suppl."},{"key":"10.1016\/j.bbrc.2004.12.038_bib17","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1053\/ejpn.2000.0453","article-title":"Assessment of dietary therapies in a canine model of Batten disease","volume":"5","author":"Siakotos","year":"2001","journal-title":"Eur. J. Paediatr. Neurol. A"},{"key":"10.1016\/j.bbrc.2004.12.038_bib18","first-page":"594","article-title":"English setter model and juvenile ceroid-lipofuscinosis in man","volume":"42","author":"Koppang","year":"1992","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bbrc.2004.12.038_bib19","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1002\/ajmg.1320570231","article-title":"Canine hereditary ceroid-lipofuscinosis: evidence for a defect in the carnitine biosynthetic pathway","volume":"57","author":"Katz","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bbrc.2004.12.038_bib20","doi-asserted-by":"crossref","first-page":"9906","DOI":"10.1016\/S0021-9258(17)36968-5","article-title":"Lysine methylation of mitochondrial ATP synthase subunit c stored in tissues of dogs with hereditary ceroid-lipofuscinosis","volume":"269","author":"Katz","year":"1994","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbrc.2004.12.038_bib21","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/ajmg.1320310620","article-title":"4-Hydroxynonenal: a specific indicator for canine neuronal-retinal ceroidosis","volume":"5","author":"Siakotos","year":"1988","journal-title":"Am. J. Med. Genet. Suppl."},{"key":"10.1016\/j.bbrc.2004.12.038_bib22","first-page":"985","article-title":"Altered mitochondrial function in canine ceroid-lipofuscinosis","volume":"23","author":"Siakotos","year":"1997","journal-title":"Neurochem. Res."},{"key":"10.1016\/j.bbrc.2004.12.038_bib23","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1002\/(SICI)1097-4547(19980501)52:3<268::AID-JNR3>3.0.CO;2-B","article-title":"Coding sequence and exon\/intron organization of the canine CLN3 (Batten disease) gene and its exclusion as the locus for ceroid lipofuscinosis in English setter dogs","volume":"52","author":"Shibuya","year":"1998","journal-title":"J. Neurosci. Res."},{"key":"10.1016\/j.bbrc.2004.12.038_bib24","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/S0065-2660(01)45011-5","article-title":"Animal models for the ceroid lipofuscinoses","volume":"45","author":"Katz","year":"2001","journal-title":"Adv. Genet."},{"key":"10.1016\/j.bbrc.2004.12.038_bib25","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1046\/j.1365-2052.1998.295358.x","article-title":"Genetic markers linked to neuronal ceroid lipofuscinosis in English setter dogs","volume":"29","author":"Lingaas","year":"1998","journal-title":"Anim. Genet."},{"key":"10.1016\/j.bbrc.2004.12.038_bib26","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1093\/jhered\/90.1.27","article-title":"FISH mapping and identification of canine chromosomes","volume":"90","author":"Breen","year":"1999","journal-title":"J. Hered."},{"key":"10.1016\/j.bbrc.2004.12.038_bib27","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1186\/1471-2164-5-65","article-title":"An integrated 4249 marker FISH\/RH map of the canine genome","volume":"5","author":"Breen","year":"2004","journal-title":"BMC Genomics"},{"key":"10.1016\/j.bbrc.2004.12.038_bib28","doi-asserted-by":"crossref","first-page":"5296","DOI":"10.1073\/pnas.0831002100","article-title":"A 1-Mb resolution radiation hybrid map of the canine genome","volume":"100","author":"Guyon","year":"2003","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.bbrc.2004.12.038_bib29","doi-asserted-by":"crossref","first-page":"1898","DOI":"10.1126\/science.1086432","article-title":"The dog genome: sequencing and comparative analysis","volume":"301","author":"Kirkness","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.bbrc.2004.12.038_bib30","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1111\/j.1939-1676.2005.tb02657.x","article-title":"A variant form neuronal ceroid lipofuscinosis in American Bulldogs","volume":"19","author":"Evans","year":"2005","journal-title":"J. Vet. Intern. Med."},{"key":"10.1016\/j.bbrc.2004.12.038_bib31","doi-asserted-by":"crossref","first-page":"67","DOI":"10.2460\/ajvr.2005.66.67","article-title":"Assessment of retinal function and characterization of lysosomal storage body accumulation in the retinas and brains of Tibetan Terriers with ceroid-lipofuscinosis","volume":"66","author":"Katz","year":"2004","journal-title":"Am. J. Vet. Res."},{"key":"10.1016\/j.bbrc.2004.12.038_bib32","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1111\/j.1365-2052.1993.tb00338.x","article-title":"Two polymorphic microsatellites in a coding segment of the canine androgen receptor gene","volume":"24","author":"Shibuya","year":"1993","journal-title":"Anim. Genet."},{"key":"10.1016\/j.bbrc.2004.12.038_bib33","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/ajmg.1320310610","article-title":"Reconsideration of the classification of the neuronal ceroid-lipofuscinoses","volume":"5","author":"Dyken","year":"1988","journal-title":"Am. J. Med. Genet. Suppl."},{"key":"10.1016\/j.bbrc.2004.12.038_bib34","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1002\/ajmg.1320310607","article-title":"Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities","volume":"5","author":"Wisniewski","year":"1988","journal-title":"Am. J. Med. Genet. Suppl."},{"key":"10.1016\/j.bbrc.2004.12.038_bib35","doi-asserted-by":"crossref","unstructured":"International Batten Disease Consortium, Isolation of a novel gene underlying Batten disease, CLN3, Cell 82 (1995) 949\u2013957","DOI":"10.1016\/0092-8674(95)90274-0"},{"key":"10.1016\/j.bbrc.2004.12.038_bib36","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":"10.1016\/j.bbrc.2004.12.038_bib37","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/S0065-2660(01)45007-3","article-title":"Studies of homogeneous populations: CLN5 and CLN8","volume":"45","author":"Ranta","year":"2001","journal-title":"Adv. Genet."},{"key":"10.1016\/j.bbrc.2004.12.038_bib38","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":"10.1016\/j.bbrc.2004.12.038_bib39","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":"10.1016\/j.bbrc.2004.12.038_bib40","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1055\/s-2007-973667","article-title":"Sphingolipid activator proteins (SAPs) in neuronal ceroid lipofuscinoses (NCL)","volume":"28","author":"Tyynela","year":"1997","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.bbrc.2004.12.038_bib41","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/S0968-0004(02)02154-0","article-title":"TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains","volume":"27","author":"Winter","year":"2002","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.bbrc.2004.12.038_bib42","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1002\/jnr.20133","article-title":"Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells","volume":"76","author":"Lonka","year":"2004","journal-title":"J. Neurosci. Res."},{"key":"10.1016\/j.bbrc.2004.12.038_bib43","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":"10.1016\/j.bbrc.2004.12.038_bib44","first-page":"1071","article-title":"Retinal degeneration in motor neuron degeneration: a mouse model for ceroid-lipofuscinosis","volume":"35","author":"Chang","year":"1994","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.bbrc.2004.12.038_bib45","doi-asserted-by":"crossref","first-page":"201","DOI":"10.3109\/01677068709167181","article-title":"Histopathology of the late-onset motor neuron degeneration (Mnd) mutant in the mouse","volume":"4","author":"Messer","year":"1987","journal-title":"J. Neurogenet."},{"key":"10.1016\/j.bbrc.2004.12.038_bib46","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1055\/s-2007-973666","article-title":"Different patterns of hydrophobic protein storage in different forms of neuronal ceroid lipofuscinosis (NCL, Batten disease)","volume":"28","author":"Palmer","year":"1997","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.bbrc.2004.12.038_bib47","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1101\/gr.11.1.3","article-title":"Pyrosequencing sheds light on DNA sequencing","volume":"11","author":"Ronaghi","year":"2001","journal-title":"Genome Res."}],"container-title":["Biochemical and Biophysical Research Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X04028074?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X04028074?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,7,2]],"date-time":"2021-07-02T01:52:09Z","timestamp":1625190729000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0006291X04028074"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,2]]},"references-count":47,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,2]]}},"alternative-id":["S0006291X04028074"],"URL":"https:\/\/doi.org\/10.1016\/j.bbrc.2004.12.038","relation":{},"ISSN":["0006-291X"],"issn-type":[{"value":"0006-291X","type":"print"}],"subject":[],"published":{"date-parts":[[2005,2]]}}}