{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T07:42:01Z","timestamp":1791013321021,"version":"4.1.0"},"reference-count":27,"publisher":"Oxford University Press (OUP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,1]]},"DOI":"10.1093\/jb\/mvs131","type":"journal-article","created":{"date-parts":[[2012,11,6]],"date-time":"2012-11-06T02:56:42Z","timestamp":1352170602000},"page":"111-119","source":"Crossref","is-referenced-by-count":18,"title":["Characterization of the mutant \u03b2-subunit of \u03b2-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype"],"prefix":"10.1093","volume":"153","author":[{"given":"Kenichiro","family":"Yamada","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuhei","family":"Takado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusuke S.","family":"Kato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasukazu","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideaki","family":"Ishiguro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuaki","family":"Wakamatsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2012,11,5]]},"reference":[{"key":"key\n\t\t\t\t20170503070510_mvs131-B1","article-title":"The GM2-gangliosidosis in","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Gravel","year":"2001"},{"key":"key\n\t\t\t\t20170503070510_mvs131-B2","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1212\/WNL.37.1.75","article-title":"Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff\u2019s disease","volume":"37","author":"Bolhuis","year":"1987","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170503070510_mvs131-B3","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/S0006-291X(05)81388-9","article-title":"Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease","volume":"181","author":"Banerjee","year":"1991","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B4","doi-asserted-by":"crossref","first-page":"2406","DOI":"10.1016\/S0021-9258(18)45894-2","article-title":"A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3\u2032 splice site selection","volume":"267","author":"Wakamatsu","year":"1992","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B5","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1172\/JCI115863","article-title":"An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds","volume":"90","author":"McInnes","year":"1992","journal-title":"J. Clin. Invest."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B6","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/0925-4439(93)90134-M","article-title":"Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme","volume":"1182","author":"Bolhuis","year":"1993","journal-title":"Biochim. Biophys. Acta"},{"key":"key\n\t\t\t\t20170503070510_mvs131-B7","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/BF00191799","article-title":"A common beta hexosaminidase gene mutation in adult Sandhoff disease patients","volume":"96","author":"Gomez-Lira","year":"1995","journal-title":"Hum. Genet."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B8","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/S0022-510X(97)00299-2","article-title":"Adult Sandhoff\u2019s disease: R505Q and I207V substitutions in the HEXB gene of the first Japanese case","volume":"155","author":"Hara","year":"1998","journal-title":"J. Neurol. Sci."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B9","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/S0022-510X(02)00007-2","article-title":"Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype","volume":"195","author":"Yoshizawa","year":"2002","journal-title":"J. Neuro. Sci."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B10","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1136\/jnnp.2009.177089","article-title":"New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype","volume":"81","author":"Delnooz","year":"2010","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"key\n\t\t\t\t20170503070510_mvs131-B11","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/0022-510X(88)90058-5","article-title":"Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency","volume":"87","author":"Rubin","year":"1988","journal-title":"J. Neurol. Sci."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B12","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/S0925-4439(96)00044-0","article-title":"Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207\u2013>Val substitution is not associated with a clinical or biochemical phenotype","volume":"1317","author":"Redonnet-Vernhet","year":"1996","journal-title":"Biochim. Biophys. Acta"},{"key":"key\n\t\t\t\t20170503070510_mvs131-B13","doi-asserted-by":"crossref","first-page":"21386","DOI":"10.1074\/jbc.273.33.21386","article-title":"A Pro504 \u2013> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease","volume":"273","author":"Hou","year":"1998","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B14","first-page":"37","article-title":"A patient with GM2 gangliosidosis presenting with motor neuron disease symptom in his forties","volume":"47","author":"Takado","year":"2007","journal-title":"Clin. Neurol. (Rinsho Shinkeigaku)"},{"key":"key\n\t\t\t\t20170503070510_mvs131-B15","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1007\/BF00220463","article-title":"Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency","volume":"90","author":"Yamada","year":"1992","journal-title":"Hum. Genet."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B16","first-page":"497","article-title":"beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay\u2013Sachs disease","volume":"53","author":"Brown","year":"1993","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B17","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1086\/302048","article-title":"Missense and nonsense mutations in the lysosomal \u03b1-mannosidase gene (MANB) in severe and mild forms of \u03b1-mannosidosis","volume":"63","author":"Gotoda","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B18","doi-asserted-by":"crossref","first-page":"2714","DOI":"10.1002\/elps.1150181505","article-title":"SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling","volume":"18","author":"Guex","year":"1997","journal-title":"Electrophoresis"},{"key":"key\n\t\t\t\t20170503070510_mvs131-B19","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/jcc.20084","article-title":"UCSF Chimera\u2014a visualization system for exploratory research and analysis","volume":"25","author":"Pettersen","year":"2004","journal-title":"J. Comput. Chem."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B20","doi-asserted-by":"crossref","first-page":"3350","DOI":"10.1016\/S0021-9258(17)43301-1","article-title":"Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts","volume":"259","author":"Proia","year":"1984","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B21","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1038\/83048","article-title":"Barrels in pieces?","volume":"8","author":"Gerlt","year":"2001","journal-title":"Nat. Struct. Biol."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B22","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/S0014-5793(01)02236-0","article-title":"The TIM-barrel fold: a versatile framework for efficient enzymes","volume":"492","author":"Wierenga","year":"2001","journal-title":"FEBS Lett."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B23","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1016\/S0958-1669(00)00230-5","article-title":"Stability, catalytic versatility and evolution of the (\u03b2\u03b1)8-barrel fold","volume":"12","author":"H\u00f6cker","year":"2001","journal-title":"Curr. Opin. Biotechnol."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B24","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1016\/j.jmb.2006.04.004","article-title":"Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay\u2013Sachs mutations and loss of GM2 ganglioside hydrolysis","volume":"359","author":"Lemieux","year":"2006","journal-title":"J. Mol. Biol."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B25","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1016\/S0022-2836(03)00311-5","article-title":"The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease","volume":"328","author":"Maier","year":"2003","journal-title":"J. Mol. Biol."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B26","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1016\/S0022-2836(03)00216-X","article-title":"Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay\u2013Sachs disease","volume":"327","author":"Mark","year":"2003","journal-title":"J. Mol. Biol."},{"key":"key\n\t\t\t\t20170503070510_mvs131-B27","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1007\/BF00219337","article-title":"Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease","volume":"88","author":"Leinekugel","year":"1992","journal-title":"Hum. Genet."}],"container-title":["The Journal of Biochemistry"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jb\/article-pdf\/153\/1\/111\/14145895\/mvs131.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,30]],"date-time":"2022-01-30T22:50:51Z","timestamp":1643583051000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jb\/article-lookup\/doi\/10.1093\/jb\/mvs131"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,5]]},"references-count":27,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2012,11,5]]},"published-print":{"date-parts":[[2013,1]]}},"URL":"https:\/\/doi.org\/10.1093\/jb\/mvs131","relation":{},"ISSN":["1756-2651","0021-924X"],"issn-type":[{"value":"1756-2651","type":"electronic"},{"value":"0021-924X","type":"print"}],"subject":[],"published":{"date-parts":[[2012,11,5]]}}}