Author:
Tajima Youichi,Matsuzawa Fumiko,Aikawa Sei-ichi,Okumiya Toshika,Yoshimizu Michiru,Tsukimura Takahiro,Ikekita Masahiko,Tsujino Seiichi,Tsuji Akihiko,Edmunds Tim,Sakuraba Hitoshi
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference28 articles.
1. Davies G, Henrissat B (1995) Structures and mechanisms of glycosyl hydrolases. Structure 3:853–859
2. Ernst HA, Leggio LL, Willemoës M, Leonard G, Blum P, Larsen S (2006) Structure of the Sulfolobus solfataricus α-glucosidase: implications for domain conservation and substrate recognition in GH31. J Mol Biol 358:1106–1124
3. Hasilik A, Neufeld EF (1980) Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues. J Biol Chem 255:4946–4950
4. Hermans MM, van Leenen D, Kroos MA, Beesley CE, Van Der Ploeg AT, Sakuraba H, Wevers R, Kleijer W, Michelakakis H, Kirk EP, Fletcher J, Bosshard N, Basel-Vanagaite L, Besley G, Reuser AJ (2004) Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. Hum Mutat 23:47–56
5. Hirschhorn R, Reuser AJJ (2001) Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. 8th edn. McGraw-Hill, New York, pp 3389–3420
Cited by
50 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献