翻訳と辞書 Words near each other ・ Galametz ・ Galamsey ・ Galamtin ・ Galactose epimerase deficiency ・ Galactose mutarotase ・ Galactose oxidase ・ Galactose-1-phosphate thymidylyltransferase ・ Galactose-1-phosphate uridylyltransferase ・ Galactose-1-phosphate uridylyltransferase deficiency ・ Galactose-3-O-sulfotransferase ・ Galactose-6-phosphate isomerase ・ Galactose-6-sulfurylase ・ Galactose-alpha-1,3-galactose ・ Galactosemia ・ Galactosemic cataract ・ Galactosialidosis ・ Galactosidases ・ Galactoside ・ Galactoside 2-alpha-L-fucosyltransferase ・ Galactoside O-acetyltransferase ・ Galactosomum ・ Galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide b-1,6-N-acetylglucosaminyltransferase ・ Galactosylacylglycerol O-acyltransferase ・ Galactosylceramidase ・ Galactosylceramide sulfotransferase ・ Galactosyldiacylglycerol alpha-2,3-sialyltransferase ・ Galactosylgalactosylglucosylceramidase ・ Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase ・ Galactosyltransferase ・ Galactosylxylosylprotein 3-beta-galactosyltransferase Dictionary Lists mini英和辞書 mini和英辞書 Webster 1913 Latin-English FOLDOC Wikipedia English ウィキペディア

翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Galactosialidosis ： ウィキペディア英語版 Galactosialidosis Galactosialidosis is a lysosomal storage disease. This condition is rare and most cases have been in the juvenile/adult group of patients. An infantile form has been described. ==Molecular biology== It is associated with cathepsin A. This disease is due to mutations in the CTSA gene which encodes the protective protein/cathepsin A (PPCA).〔Caciotti A, Catarzi S, Tonin R, Lugli L, Perez CR, Michelakakis H, Mavridou I, Donati MA, Guerrini R, D Azzo A, Morrone A (2013) Galactosialidosis: review and analysis of CTSA gene mutations. Orphanet J Rare Dis 8(1):114 〕 This in turn leads to a secondary deficiency of beta-galactosidase (GLB1) and neuraminidase 1 (NEU1). There are three distinct CTSA isoforms. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Galactosialidosis」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.