title: The FRAXopathies: definition, overview, and update.
abstract: 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.
authors: Istituto di Genetica Medica, Università Cattolica, Roma, Italy.
authors: Filomena
authors: F
authors: Pirozzi
authors: Elisabetta
authors: E
authors: Tabolacci
authors: Giovanni
authors: G
authors: Neri
mesh_terms: D000818:Animals; D002986:Clinical Trials as Topic; D044127:Epigenesis, Genetic; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D008594:Menopause, Premature / Q000235:genetics; D009154:Mutation; D017434:Protein Structure, Tertiary
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human