GLA insufficiency should not be called Fabry disease.
作者信息
Houge Gunnar, Langeveld Mirjam, Oliveira Joao-Paulo
机构信息
Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Institute of Clinical Medicine K2, Faculty of Medicine, University of Bergen, Bergen, Norway.
出版信息
Eur J Hum Genet. 2025 Mar;33(3):263-265. doi: 10.1038/s41431-024-01657-0. Epub 2024 Jun 27.
Abstract
摘要
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c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease.c.376A>G，（p.Ser126Gly）α-半乳糖苷酶A突变诱导内质网应激、未折叠蛋白反应并减少酶向溶酶体的转运：可能与晚发型法布里病的发病机制相关。
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