The FRAXopathies: Definition, Overview, and Update

被引：32

作者：

Pirozzi, Filomena ^{[1
]}

Tabolacci, Elisabetta ^{[1
]}

Neri, Giovanni ^{[1
]}

机构：

[1] Univ Cattolica, Ist Genet Med, I-00168 Rome, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 08期

关键词：

fragile X syndrome; FXTAS; FXPO1; FMR1; gene; pharmacological approaches; FRAGILE-X-SYNDROME; MENTAL-RETARDATION PROTEIN; METABOTROPIC GLUTAMATE-RECEPTOR; PREMATURE OVARIAN FAILURE; FMR1; MESSENGER-RNA; TREMOR/ATAXIA SYNDROME FXTAS; CGG REPEAT NUMBER; FULL-MUTATION; DROSOPHILA MODEL; DOUBLE-BLIND;

D O I：

10.1002/ajmg.a.34113

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency are conditions related to the X chromosome folate-sensitive fragile site FRAXA. Therefore, we propose that they are considered as a family of disorders under the general designation of FRAXopathies. The present review will outline the main clinical and molecular features of these disorders, with special emphasis on the pathogenic mechanisms that lead to distinct phenotypes, starting from related mutations. The understanding of these mechanisms is already generating promising therapeutic approaches. (C) 2011 Wiley-Liss, Inc.

引用

页码：1803 / 1816

页数：14

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