Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease

Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease

Fabry disease is an X-linked genetic disorder characterized by deficient activity of α-galactosidase A (GLA) and accumulation of glycolipids, and various GLA gene mutations lead to a wide range of clinical phenotypes from the classic form to the later-onset one. To investigate the biochemical hetero...

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Bibliographic Details
Main Authors: Takahiro Tsukimura, Sachie Nakano, Tadayasu Togawa, Toshie Tanaka, Seiji Saito, Kazuki Ohno, Futoshi Shibasaki, Hitoshi Sakuraba
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Fabry disease
α-Galactosidase A
Globotriaosylsphingosine
Structural modeling
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000470

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