{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T15:14:58Z","timestamp":1781709298609,"version":"3.54.5"},"reference-count":51,"publisher":"Hindawi Limited","issue":"7","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1527,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2011,7]]},"DOI":"10.1002\/humu.21516","type":"journal-article","created":{"date-parts":[[2011,4,21]],"date-time":"2011-04-21T15:38:43Z","timestamp":1303400323000},"page":"843-852","source":"Crossref","is-referenced-by-count":49,"title":["Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in \u03b2-galactosidase deficiency"],"prefix":"10.1155","volume":"32","author":[{"given":"Katsumi","family":"Higaki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linjing","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Udin","family":"Bahrudin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soichiro","family":"Okuzawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayumi","family":"Takamuram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichi","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaori","family":"Adachi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rubigilda C.","family":"Paraguison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoko","family":"Takai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroki","family":"Ikehata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lika","family":"Tominaga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichiro","family":"Hisatome","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masami","family":"Iida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiichiro","family":"Ogawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junichiro","family":"Matsuda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haruaki","family":"Ninomiya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasubumi","family":"Sakakibara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kousaku","family":"Ohno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiyuki","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiji","family":"Nanba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2011,6,27]]},"reference":[{"key":"10.1002\/humu.21516-BIB1|cit1","first-page":"881","article-title":"Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients","volume":"53","author":"Boustany","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21516-BIB2|cit2","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1016\/S1474-4422(04)00938-X","article-title":"Enzyme-replacement therapy for metabolic storage disorder","volume":"3","author":"Brady","year":"2004","journal-title":"Lancet Neurol"},{"key":"10.1002\/humu.21516-BIB3|cit3","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":"10.1002\/humu.21516-BIB4|cit4","doi-asserted-by":"crossref","first-page":"1689","DOI":"10.1016\/S0002-9440(10)61251-5","article-title":"Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients","volume":"167","author":"Caciotti","year":"2005","journal-title":"Am J Pathol"},{"key":"10.1002\/humu.21516-BIB5|cit5","first-page":"1004","article-title":"Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis","volume":"54","author":"Chakraborty","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21516-BIB6|cit6","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/sj.embor.embor873","article-title":"X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease","volume":"4","author":"Dvir","year":"2003","journal-title":"EMBO Rep"},{"key":"10.1002\/humu.21516-BIB7|cit7","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1038\/4801","article-title":"Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by en enzyme inhibitor","volume":"5","author":"Fan","year":"1999","journal-title":"Nat Med"},{"key":"10.1002\/humu.21516-BIB8|cit8","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.ymgme.2010.03.019","article-title":"DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts","volume":"100","author":"Fantur","year":"2010","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.21516-BIB9|cit9","doi-asserted-by":"crossref","first-page":"1683","DOI":"10.1002\/humu.21121","article-title":"The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase","volume":"30","author":"Flanagan","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21516-BIB10|cit10","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.jmb.2004.01.035","article-title":"The molecular defect leading to Fabry disease: structure of human alpha-galactosidase","volume":"337","author":"Garman","year":"2004","journal-title":"J Mol Biol"},{"key":"10.1002\/humu.21516-BIB11|cit11","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/humu.21031","article-title":"GM1-gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid \u03b2-galactosidase","volume":"30","author":"Hofer","year":"2009","journal-title":"Hum Mut"},{"key":"10.1002\/humu.21516-BIB12|cit12","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 mtutations","volume":"78","author":"Hofer","year":"2010","journal-title":"Clin Genet"},{"key":"10.1002\/humu.21516-BIB13|cit13","doi-asserted-by":"crossref","first-page":"22847","DOI":"10.1074\/jbc.M802182200","article-title":"Structural basis for sorting mechanism of p62 in selective autophagy","volume":"283","author":"Ichimura","year":"2008","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21516-BIB14|cit14","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":"10.1002\/humu.21516-BIB15|cit15","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1093\/brain\/awg089","article-title":"Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis","volume":"126","author":"Jeyakumar","year":"2003","journal-title":"Brain"},{"key":"10.1002\/humu.21516-BIB16|cit16","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 Bioinform"},{"key":"10.1002\/humu.21516-BIB17|cit17","doi-asserted-by":"crossref","first-page":"1591","DOI":"10.1002\/humu.21111","article-title":"Structural aspects of therapeutic enzymes to treat metabolic disorders","volume":"30","author":"Kang","year":"2009","journal-title":"Hum Mut"},{"key":"10.1002\/humu.21516-BIB18|cit18","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1016\/j.cell.2007.10.035","article-title":"Homeostatic levels of p62 control cytoplasmic inclusion body formation in autophagy-deficient mice","volume":"131","author":"Komatsu","year":"2007","journal-title":"Cell"},{"key":"10.1002\/humu.21516-BIB19|cit19","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-Sachs mutations and loss of GM2 ganglioside hydrolysis","volume":"359","author":"Lemieux","year":"2006","journal-title":"J Mol Biol"},{"key":"10.1002\/humu.21516-BIB20|cit20","doi-asserted-by":"crossref","first-page":"4816","DOI":"10.1021\/bi9002265","article-title":"Effects of pH and iminosugar pharmacological chaperones on lysosomal glycosidase structure and stability","volume":"48","author":"Lieberman","year":"2009","journal-title":"Biochemistry"},{"key":"10.1002\/humu.21516-BIB21|cit21","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.bbadis.2004.03.007","article-title":"N-octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease","volume":"1689","author":"Lin","year":"2004","journal-title":"Biochim Biophys Acta"},{"key":"10.1002\/humu.21516-BIB22|cit22","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1038\/ncb2090","article-title":"Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition","volume":"12","author":"Luciani","year":"2010","journal-title":"Nat Cell Biol"},{"key":"10.1002\/humu.21516-BIB23|cit23","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/S0962-8924(02)02399-1","article-title":"Endocytosis and sorting of glycosphingolipids in sphingolipid storage disease","volume":"12","author":"Marks","year":"2002","journal-title":"Trends Cell Biol"},{"key":"10.1002\/humu.21516-BIB24|cit24","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":"15","author":"Matsuda","year":"1997","journal-title":"Glycoconj J"},{"key":"10.1002\/humu.21516-BIB25|cit25","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 USA"},{"key":"10.1002\/humu.21516-BIB26|cit26","doi-asserted-by":"crossref","first-page":"20655","DOI":"10.1016\/S0021-9258(19)47114-7","article-title":"Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein","volume":"264","author":"Morreau","year":"1989","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21516-BIB27|cit27","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/BF00220071","article-title":"A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient","volume":"90","author":"Mosna","year":"1992","journal-title":"Hum Genet"},{"key":"10.1002\/humu.21516-BIB28|cit28","first-page":"566","article-title":"GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients","volume":"49","author":"Nishimoto","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21516-BIB29|cit29","doi-asserted-by":"crossref","first-page":"1967","DOI":"10.1016\/S0968-0896(02)00005-6","article-title":"Chemichal 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":"10.1002\/humu.21516-BIB30|cit30","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 beta-galactosidase","volume":"157","author":"Oshima","year":"1988","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.21516-BIB31|cit31","first-page":"40","article-title":"Beta-galactosidosis (genetic beta-galactosidase deficiency): clinical and genetic heterogeneity of the skeletal form","volume":"8","author":"Oshima","year":"1995","journal-title":"Dev Brain Dysfunt"},{"key":"10.1002\/humu.21516-BIB32|cit32","first-page":"1091","article-title":"Human beta-galactosidase gene mutations in morquio B disease","volume":"49","author":"Oshima","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21516-BIB33|cit33","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/j.ymgme.2009.07.002","article-title":"Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and II skin fibroblasts","volume":"98","author":"Otomo","year":"2009","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.21516-BIB34|cit34","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1002\/emmm.200900036","article-title":"Treating lysosomal storage diseases with pharmacological cheprones: from concept to clinics","volume":"1","author":"Parenti","year":"2010","journal-title":"EMBO Mol Med"},{"key":"10.1002\/humu.21516-BIB35|cit35","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1007\/s004390100570","article-title":"Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B","volume":"109","author":"Paschke","year":"2001","journal-title":"Hum Genet"},{"key":"10.1002\/humu.21516-BIB36|cit36","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1038\/14084","article-title":"Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid storage diseases","volume":"1","author":"Puri","year":"1999","journal-title":"Nat Cell Biol"},{"key":"10.1002\/humu.21516-BIB37|cit37","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.ymgme.2004.12.006","article-title":"A homology model for human alpha-l-iduronidase: insights into human disease","volume":"85","author":"Rempel","year":"2005","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.21516-BIB38|cit38","doi-asserted-by":"crossref","first-page":"3069","DOI":"10.1128\/MCB.18.5.3069","article-title":"Localization of atypical protein kinase C isoforms into lysosome-targeted endosomes through interaction with p62","volume":"18","author":"Sanchez","year":"1998","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.21516-BIB39|cit39","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1016\/j.molcel.2009.10.021","article-title":"GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis","volume":"36","author":"Sano","year":"2009","journal-title":"Mol Cell"},{"key":"10.1002\/humu.21516-BIB40|cit40","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1111\/j.1399-0004.2007.00767.x","article-title":"Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America","volume":"71","author":"Santamaria","year":"2007","journal-title":"Clin Genet"},{"key":"10.1002\/humu.21516-BIB41|cit41","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1002\/humu.9451","article-title":"Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies","volume":"27","author":"Santamaria","year":"2006","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21516-BIB42|cit42","doi-asserted-by":"crossref","first-page":"15428","DOI":"10.1073\/pnas.192582899","article-title":"Chemical chaperones increase the cellular activity of N370S beta-glucosidase: a therapeutic strategy for Gaucher disease","volume":"99","author":"Sawkar","year":"2002","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21516-BIB43|cit43","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1093\/hmg\/ddm289","article-title":"A block of autophagy in lysoosmal storage disorders","volume":"17","author":"Settembre","year":"2008","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.21516-BIB44|cit44","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1002\/(SICI)1098-1004(1999)13:5<401::AID-HUMU9>3.0.CO;2-N","article-title":"Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis","volume":"13","author":"Silva","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21516-BIB45|cit45","doi-asserted-by":"crossref","first-page":"27180","DOI":"10.1074\/jbc.M300542200","article-title":"Distinct endosomal compartments in early trafficking of low density lipoprotein-derived cholesterol","volume":"278","author":"Sugii","year":"2003","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21516-BIB46|cit46","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":"10.1002\/humu.21516-BIB47|cit47","volume-title":"The online metabolic and molecular bases of inherited disease","author":"Suzuki","year":"2008"},{"key":"10.1002\/humu.21516-BIB48|cit48","first-page":"7","article-title":"Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activities","volume":"26","author":"Suzuki","year":"2009","journal-title":"Perspect Med Chem"},{"key":"10.1002\/humu.21516-BIB49|cit49","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1016\/j.bbrc.2007.12.187","article-title":"Enhanced autophagy and mitochondrial aberrations in murine GM1-gangliosidosis","volume":"367","author":"Takamura","year":"2008","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.21516-BIB50|cit50","doi-asserted-by":"crossref","first-page":"1487","DOI":"10.1038\/sj.gt.3302033","article-title":"Attenuation of ganglioside GM1 accumulation in the brain of GM1-gangliosidosis mice by neonatal intravenous gene transfer","volume":"10","author":"Takaura","year":"2005","journal-title":"Gene Ther"},{"key":"10.1002\/humu.21516-BIB51|cit51","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1016\/j.molcel.2004.08.029","article-title":"GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis","volume":"15","author":"Tessitore","year":"2004","journal-title":"Mol Cell"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.21516","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.21516","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:52:31Z","timestamp":1672332751000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.21516"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,6,27]]},"references-count":51,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2011,7]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.21516","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2011,6,27]]}}}