Chaperone Therapy in Fabry Disease

被引：30

作者：

Weidemann, Frank ^{[1
]}

Jovanovic, Ana ^{[2
]}

Herrmann, Ken ^{[3
]}

Vardarli, Irfan ^{[1
]}

机构：

[1] Ruhr Univ Bochum, Acad Teaching Hosp, Knappschaftskrankenhaus Recklinghausen, Dept Med 1,Klinikum Vest GmbH, D-45657 Recklinghausen, Germany

[2] Nothern Care Alliance NHS Fdn Trust, Mark Holland Metab Unit, Salford M6 8HD, Lancs, England

[3] Univ Hosp Essen, Dept Nucl Med, D-45147 Essen, Germany

来源：

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 2022年 / 23卷 / 03期

关键词：

Fabry disease; therapy; chaperone; LYSOSOMAL ALPHA-GALACTOSIDASE; IN-VITRO; MIGALASTAT; MUTATIONS; DIAGNOSIS; GENE; 1-DEOXYGALACTONOJIRIMYCIN; LYMPHOBLASTS; AMENABILITY; EFFICACY;

D O I：

10.3390/ijms23031887

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Fabry disease is an X-linked lysosomal multisystem storage disorder induced by a mutation in the alpha-galactosidase A (GLA) gene. Reduced activity or deficiency of alpha-galactosidase A (AGAL) leads to escalating storage of intracellular globotriaosylceramide (GL-3) in numerous organs, including the kidneys, heart and nerve system. The established treatment for 20 years is intravenous enzyme replacement therapy. Lately, oral chaperone therapy was introduced and is a therapeutic alternative in patients with amenable mutations. Early starting of therapy is essential for long-term improvement. This review describes chaperone therapy in Fabry disease.

引用

页数：10

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