{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T13:08:40Z","timestamp":1774616920176,"version":"3.50.1"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":3657,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,6,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The role of subunit\u20109 of mitochondrial ATP synthase in Batten disease was defined by characterizing the expression of genes encoding this protein in human tissues. Two genetically distinct neuronal ceroid\u2010lipofuscinoses (NCL) comprise Batten disease: the late\u2010infantile (LINCL) and juvenile (JNCL) types. We tested cell lines and tissues from both types of patients, along with normal controls. Differences in expression between diseased and normal samples were found for both mRNA and protein. Antibody staining of subunit\u20109 protein was detected in LINCL and JNCL tissues, and in 6 LINCL and 4 of 5 JNCL fibroblast lines. No immunoreactivity was seen in fibroblasts from obligate carriers, normal controls, and 6 other storage disease controls, with the exception of faint staining in Niemann\u2010Pick, type C cells. There was an appreciable difference in staining pattern in both tissue sections and fibroblasts between LINCL and JNCL. Three subunit\u20109 transcripts (Hum1, Hum2, and Hum3) were specifically detected in NCL and normal human tissue from heart, liver, brain, muscle, and pancreas. Transcriptional regulation of subunit\u20109 genes was found to be altered in Batten disease. Pseudogenes related to each of the subunit\u20109 genes were isolated. Sequence analysis of cDNAs spanning the protein\u2010coding regions of the Hum1, Hum2, and Hum3 genes showed conclusively that the primary defect(s) causing NCL are not mutations in the protein\u2010coding regions of the 3 known subunit\u20109 genes. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320570250","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:01:48Z","timestamp":1118512908000},"page":"350-360","source":"Crossref","is-referenced-by-count":15,"title":["Role of subunit\u20109 of mitochondrial ATP synthase in Batten disease"],"prefix":"10.1002","volume":"57","author":[{"given":"David W.","family":"Johnson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Speier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei\u2010Hua","family":"Qian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven","family":"Lane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alyson","family":"Cook","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kinuko","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Daniel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rose\u2010Mary","family":"Boustany","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310608"},{"key":"e_1_2_1_3_1","first-page":"881","article-title":"Mutations in acid B\u2010galactosidase cause GM1\u2010gangliosidosis in American patients","volume":"53","author":"Boustany R\u2010M","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00591a005"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(87)90021-2"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/12.1Part1.387"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2930051"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2600249"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410130402"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(87)91446-X"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420423"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1985.tb04111.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/29.4.6166661"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90235-7"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a123749"},{"key":"e_1_2_1_16_1","first-page":"321","volume-title":"Pathophysiology of Lysosomal Transport.","author":"Lee H\u2010K","year":"1992"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00263a020"},{"key":"e_1_2_1_18_1","first-page":"154","volume-title":"Molecular Basis of Neurological Disorders and Their Treatment.","author":"Medd SM","year":"1992"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2930065"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4899-5339-1_15"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420428"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.59.070190.001555"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.12.5463"},{"key":"e_1_2_1_24_1","doi-asserted-by":"crossref","unstructured":"SebaldW HoppeJ(1981): On the structure and genetics of the proteolipid subunit of the ATP synthase complex. In Sanadi DR (ed): \u201cCurrent Topics in Bioenergetics \u201d Vol. 12. pp1\u201364.","DOI":"10.1016\/B978-0-12-152512-5.50007-5"},{"key":"e_1_2_1_25_1","first-page":"380","article-title":"Loss of resolution in gel electrophoresis of RNA: a problem associated with the presence of formaldehyde gradients","volume":"14","author":"Tsang SS","year":"1993","journal-title":"Biotechniques"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.55.070186.003215"},{"key":"e_1_2_1_27_1","first-page":"466","article-title":"Clinicopathological study of a new subform of the late infantile type of neuronal ceroid lipofuscinosis","volume":"34","author":"Wisniewski KE","year":"1993","journal-title":"Ann Neurol"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310607"},{"key":"e_1_2_1_29_1","first-page":"89","article-title":"Localization of juvenile, but not late\u2010infantile, neuronal ceroid lipofuscinosis on chromosome 16","volume":"52","author":"Yan W","year":"1993","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_30_1","doi-asserted-by":"crossref","unstructured":"YanWL LernerTJ HainesJL GusellaJF(1994): Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA.Genomics(personal communication).","DOI":"10.1006\/geno.1994.1631"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320570250","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320570250","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T15:19:21Z","timestamp":1698333561000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320570250"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,6,5]]},"references-count":29,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,6,5]]}},"alternative-id":["10.1002\/ajmg.1320570250"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320570250","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,6,5]]}}}