Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones

被引：26

作者：

Cammisa, Marco ^{[1
]}

Correra, Antonella ^{[1
]}

Andreotti, Giuseppina ^{[2
]}

Cubellis, Maria Vittoria ^{[1
,3
]}

机构：

[1] Univ Naples Federico II, Dipartimento Biol, Naples, Italy

[2] CNR, Ist Chim Biomol, Pozzuoli, Italy

[3] CNR, Ist Biostrutture & Bioimmagini, I-80125 Naples, Italy

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2013年 / 8卷

关键词：

Fabry disease; Pharmacological chaperone; Web-application; Therapy; ALPHA-GALACTOSIDASE; PREDICTION; SAFETY;

D O I：

10.1186/1750-1172-8-111

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Fabry_CEP is a user-friendly web-application designed to help clinicians Choose Eligible Patients for the therapy with pharmacological chaperones. It provides a database and a predictive tool to evaluate the responsiveness of lysosomal alpha-galactosidase mutants to a small molecule drug, namely 1-Deoxy-galactonojirimycin. The user can introduce any missense/nonsense mutation in the coding sequence, learn whether it is has been tested and gain access to appropriate reference literature. In the absence of experimental data structural, functional and evolutionary analysis provides a prediction and the probability that a given mutation is responsive to the drug.

引用

页数：3

共 7 条

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