{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T18:24:04Z","timestamp":1789928644290,"version":"4.0.1"},"reference-count":40,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2012,5,1]],"date-time":"2012-05-01T00:00:00Z","timestamp":1335830400000},"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":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2012,5]]},"DOI":"10.1016\/j.ymgme.2012.02.012","type":"journal-article","created":{"date-parts":[[2012,3,6]],"date-time":"2012-03-06T00:00:04Z","timestamp":1330992004000},"page":"92-98","source":"Crossref","is-referenced-by-count":41,"title":["Therapeutic chaperone effect of N-Octyl 4-Epi-\u03b2-valienamine on murine GM1-gangliosidosis"],"prefix":"10.1016","volume":"106","author":[{"given":"Yoshiyuki","family":"Suzuki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Ichinomiya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mieko","family":"Kurosawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junichiro","family":"Matsuda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiichiro","family":"Ogawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masami","family":"Iida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takatoshi","family":"Kubo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miho","family":"Tabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masayuki","family":"Itoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsumi","family":"Higaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiji","family":"Nanba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kousaku","family":"Ohno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2012.02.012_bb0005","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/S0006-291X(88)80038-X","article-title":"Cloning, sequencing, and expression of cDNA for human \u03b2-galactosidase","volume":"157","author":"Oshima","year":"1988","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0010","series-title":"The Online Metabolic and Molecular Bases of Inherited Disease","first-page":"1","article-title":"\u03b2-Galactosidase deficiency (\u03b2-galactosidosis): GM1-gangliosidosis and Morquio B disease","author":"Suzuki","year":"2008"},{"key":"10.1016\/j.ymgme.2012.02.012_bb0015","first-page":"435","article-title":"Human \u03b2-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult\/chronic cases","volume":"49","author":"Yoshida","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0020","first-page":"1091","article-title":"Human \u03b2-galactosidase gene mutations in morquio B disease","volume":"49","author":"Oshima","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0025","first-page":"7","article-title":"Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activities","volume":"3","author":"Suzuki","year":"2009","journal-title":"Perspect. Med. Chem."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0030","doi-asserted-by":"crossref","first-page":"1585","DOI":"10.1006\/bbrc.1993.2659","article-title":"Characterization of a mutant \u03b1-galactosidase gene product for the late-onset cardiac form of Fabry disease","volume":"197","author":"Ishii","year":"1993","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0035","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1007\/BF00223869","article-title":"\u03b1-Galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins","volume":"95","author":"Okumiya","year":"1995","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0040","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1006\/bbrc.1995.2416","article-title":"Galactose stabilizes various missense mutants of \u03b1-galactosidase in Fabry disease","volume":"214","author":"Okumiya","year":"1995","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0045","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1056\/NEJM200107053450104","article-title":"Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy","volume":"345","author":"Frustaci","year":"2001","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0050","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1038\/4801","article-title":"Accelerated transport and maturation of lysosomal \u03b1-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor","volume":"5","author":"Fan","year":"1999","journal-title":"Nat. Med."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0055","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1007\/s10545-006-0287-y","article-title":"\u03b2-Galactosidase deficiency: an approach to chaperone therapy","volume":"29","author":"Suzuki","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0060","doi-asserted-by":"crossref","first-page":"1955","DOI":"10.1016\/S0968-0896(98)00143-6","article-title":"Chemical modification of \u03b2-glucocerebrosidase inhibitor N-octyl-\u03b2-valienamine: synthesis and biological evaluation of N-alkanoyl and N-alkyl derivatives","volume":"6","author":"Ogawa","year":"1998","journal-title":"Bioorg. Med. Chem."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0065","doi-asserted-by":"crossref","first-page":"1967","DOI":"10.1016\/S0968-0896(02)00005-6","article-title":"Chemical modification of the \u03b2-glucocerebrosidase inhibitor N-octyl-\u03b2-valienamine: synthesis and biological evaluation of 4-epimeric and 4-O-(\u03b2-d-galactopyranosyl) derivatives","volume":"10","author":"Ogawa","year":"2002","journal-title":"Bioorg. Med. Chem."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0070","doi-asserted-by":"crossref","first-page":"15912","DOI":"10.1073\/pnas.2536657100","article-title":"Chemical chaperone therapy for brain pathology in GM1-gangliosidosis","volume":"100","author":"Matsuda","year":"2003","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0075","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1002\/ana.21284","article-title":"Chemical chaperone therapy: clinical effect in murine GM1-gangliosidosis","volume":"62","author":"Suzuki","year":"2007","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0080","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1039\/c39940001317","article-title":"Synthesis of glucosylceramide analogues: imino-linked 5a-carbaglycosylceramides, potent and specific glucocerebrosidase inhibitors","author":"Ogawa","year":"1994","journal-title":"J. Chem. Soc. Chem. Commun."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0085","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/jlac.199519950237","article-title":"Synthesis of glycosylceramide analogs composed of imino-linked unsaturated 5a-carbaglycosyl residues: potent and specific gluco- and galactocerebrosidase inhibitors","author":"Tsunoda","year":"1995","journal-title":"Liebigs Annal. Chem."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0090","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1016\/0960-894X(96)00146-1","article-title":"Synthesis of potent \u03b2-d-glucocerebrosidase inhibitors: N-alkyl-\u03b2-valienamines","volume":"6","author":"Ogawa","year":"1996","journal-title":"Bioorg. Med. Chem. Lett."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0095","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1023\/A:1018573518127","article-title":"\u03b2-Galactosidase-deficient mouse as an animal model for GM1-gangliosidosis","volume":"14","author":"Matsuda","year":"1997","journal-title":"Glycoconj. J."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0100","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/j.braindev.2006.02.002","article-title":"Fibroblast screening for chaperone therapy in \u03b2-galactosidosis","volume":"28","author":"Iwasaki","year":"2006","journal-title":"Brain Dev."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0105","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/S0387-7604(96)00077-0","article-title":"Neurological manifestations of knockout mice with \u03b2-galactosidase deficiency","volume":"19","author":"Matsuda","year":"1997","journal-title":"Brain Dev."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0110","series-title":"A Handbook of Mutation Analysis","article-title":"Mouse phenotypes","author":"Papaioannou","year":"2005"},{"key":"10.1016\/j.ymgme.2012.02.012_bb0115","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/j.braindev.2006.08.014","article-title":"Motor and reflex testing in GM1-gangliosidosis model mice","volume":"29","author":"Ichinomiya","year":"2007","journal-title":"Brain Dev."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0120","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1016\/S0387-7604(01)00252-2","article-title":"Sites and temporal changes of gangliosides GM1\/GM2 storage in the Niemann\u2013Pick disease type C mouse brain","volume":"23","author":"Taniguchi","year":"2001","journal-title":"Brain Dev."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0125","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1016\/j.bmc.2003.12.016","article-title":"Convenient synthesis and evaluation of glycosidase inhibitory activity of \u03b1 and \u03b2-galactose-type valienamines, and some N-alkyl derivatives","volume":"12","author":"Ogawa","year":"2004","journal-title":"Bioorg. Med. Chem."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0130","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of lysosomal storage disorders","volume":"281","author":"Meikle","year":"1999","journal-title":"JAMA"},{"key":"10.1016\/j.ymgme.2012.02.012_bb0135","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1016\/j.bbadis.2011.03.018","article-title":"GM1-gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings","volume":"1812","author":"Caciotti","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2012.02.012_bb0140","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/j.braindev.2003.09.006","article-title":"Sphingolipidoses in Turkey","volume":"26","author":"Ozkara","year":"2004","journal-title":"Brain Dev."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0145","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1111\/j.1399-0004.2010.01379.x","article-title":"Phenotype determining alleles in GM1-gangliosidosis patients bearing novel GLB1 mutations","volume":"78","author":"Hofer","year":"2010","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0150","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1002\/humu.21516","article-title":"Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in \u03b2-galactosidase deficiency","volume":"32","author":"Higaki","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0155","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.ymgme.2008.04.012","article-title":"GM1-gangliosidosis: review of clinical, molecular, and therapeutic aspects","volume":"94","author":"Brunetti-Pierri","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0160","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1016\/0014-4827(83)90175-1","article-title":"Effects of thiol protease inhibitors on intracellular degradation of exogenous \u03b2-galactosidase in cultured human skin fibroblasts","volume":"148","author":"Ko","year":"1983","journal-title":"Exp. Cell. Res."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0165","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1111\/j.1399-0004.1990.tb03581.x","article-title":"Bone marrow transplantation in canine GM1-gangliosidosis","volume":"38","author":"O'Brien","year":"1990","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0170","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.ymgme.2008.02.005","article-title":"Beneficial effects of substrate reduction therapy in a mouse model of GM1-gangliosidosis","volume":"94","author":"Elliot-Smith","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0175","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.ejpn.2008.03.004","article-title":"The potential action of galactose as a \u201cchemical chaperone\u201d: increase of \u03b2-galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient","volume":"13","author":"Caciotti","year":"2009","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0180","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.bbadis.2004.03.007","article-title":"N-octyl-\u03b2-valienamine up-regulates activity of F213I mutant \u03b2-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease","volume":"1689","author":"Lin","year":"2004","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2012.02.012_bb0185","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/S0387-7604(01)00216-9","article-title":"Galactonojirimycin derivatives restore mutant human \u03b2-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse","volume":"23","author":"Tominaga","year":"2001","journal-title":"Brain Dev."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0190","doi-asserted-by":"crossref","first-page":"104","DOI":"10.4172\/jpb.1000128","article-title":"Molecular basis of chemical chaperone effects of N-octyl-\u03b2-valienamine on human \u03b2-glucosidase in low\/neutral pH conditions","volume":"3","author":"Jo","year":"2010","journal-title":"J. Proteomics Bioinformat"},{"key":"10.1016\/j.ymgme.2012.02.012_bb0195","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1038\/jhg.2009.70","article-title":"Structural bases of GM1-gangliosidosis and Morquio B disease","volume":"54","author":"Morita","year":"2009","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2012.02.012_bb0200","doi-asserted-by":"crossref","first-page":"1801","DOI":"10.1074\/jbc.M111.293795","article-title":"Crystal structure of human \u03b2-galactosidase: The structural basis of GM1-gangliosidosis and Morquio B diseases","volume":"287","author":"Ohto","year":"2012","journal-title":"J. Biol. Chem."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719212000637?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719212000637?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,25]],"date-time":"2018-11-25T14:50:02Z","timestamp":1543157402000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719212000637"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["S1096719212000637"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2012.02.012","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2012,5]]}}}