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Some low\u2010molecular\u2010weight compounds, acting as competitive inhibitors of a lysosomal enzyme <jats:italic>in vitro<\/jats:italic>, were found to stabilize and restore catalytic activities of the enzyme molecule as a molecular chaperone. We started this trial first in Fabry disease (generalized vasculopathy) using galactose and 1\u2010deoxygalactonojirimycin, and then in \u03b2\u2010galactosidase deficiency disorders (\u03b2\u2010galactosidosis) with generalized neurosomatic and\/or systemic skeletal manifestations (GM<jats:sub>1<\/jats:sub>\u2010gangliosidosis and Morquio B disease), using a newly developed chemical compound <jats:italic>N<\/jats:italic>\u2010octyl\u20104\u2010epi\u2010\u03b2\u2010valienamine (NOEV). Administration of this chaperone compound resulted in elevation of intracellular enzyme activity in cultured fibroblasts from patients and genetically engineered model mice. In addition, substrate storage was improved after NOEV had been transported into the brain tissue via the blood\u2013brain barrier. We hope this new approach (chemical chaperone therapy) will be useful for certain patients with \u03b2\u2010galactosidosis and potentially other lysosomal storage diseases with central nervous system involvement.<\/jats:p>","DOI":"10.1007\/s10545-006-0287-y","type":"journal-article","created":{"date-parts":[[2006,6,9]],"date-time":"2006-06-09T03:09:10Z","timestamp":1149822550000},"page":"471-476","source":"Crossref","is-referenced-by-count":33,"title":["\u03b2\u2010Galactosidase deficiency: An approach to chaperone therapy"],"prefix":"10.1002","volume":"29","author":[{"given":"Yoshiyuki","family":"Suzuki","sequence":"first","affiliation":[{"name":"Clinical Research Center International University of Health and Welfare  2600\u20101 Kita\u2010Kanemaru Otawara 324\u20108501 Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.6.967"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/10.11.1217"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/4801"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200107053450104"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1996.0486"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(01)00244-3"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.2004.02381.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M400411-JLR200"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2004.03.007"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1018573518127"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2536657100"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03581.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"crossref","unstructured":"OgawaS TsunodaH InokuchiJ\u2010I(1994)Synthesis of glucosylceramide analogues: imino\u2010linked 5a\u2010carbaglycosylceramides potent and specific glucocerebrosidase inhibitors.J Chem Soc Chem Commun1317\u20131318..","DOI":"10.1039\/c39940001317"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-894X(96)00146-1"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0896(98)00143-6"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0896(02)00005-6"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bmc.2003.12.016"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00223869"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1995.2416"},{"key":"e_1_2_1_21_1","first-page":"3775","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Suzuki Y","year":"2001"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(01)00216-9"},{"key":"e_1_2_1_23_1","doi-asserted-by":"crossref","unstructured":"TsunodaH InokuchiJ\u2010I YamagishiK OgawaS(1995)Synthesis of glycosylceramide analogs composed of imino\u2010linked unsaturated 5a\u2010carbaglycosyl residues: potent and specific gluco\u2010 and galactocerebrosidase inhibitors.Liebigs Ann279\u2013284..","DOI":"10.1002\/jlac.199519950237"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01819289"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3480621"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0287-y","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0287-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T09:08:31Z","timestamp":1694768911000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-006-0287-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,4]]},"references-count":24,"journal-issue":{"issue":"2-3","published-print":{"date-parts":[[2006,4]]}},"alternative-id":["10.1007\/s10545-006-0287-y"],"URL":"https:\/\/doi.org\/10.1007\/s10545-006-0287-y","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,4]]}}}