Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 155A, Issue 8, Pages 1803-1816Publisher
WILEY
DOI: 10.1002/ajmg.a.34113
Keywords
fragile X syndrome; FXTAS; FXPO1; FMR1 gene; pharmacological approaches
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Funding
- Telethon Foundation
- FRAXA Foundation
- ConquerFragileX Foundation
- Italian Ministry of University and Research
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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.
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