Fragile X syndrome: From protein function to therapy
نویسندگان
چکیده
منابع مشابه
Fragile X syndrome: from gene discovery to therapy.
A dynamic mutation in the fragile X mental retardation 1 gene, FMR1, was found to cause fragile X syndrome almost 20 years ago. Since, a wealth of information regarding the function of the gene has been gathered. It plays a role in RNA transport and stability and RNA-binding influences the function of a multitude of other genes. In this review, we focus on the recent knowledge of molecular and ...
متن کاملThyroid function in fragile-X syndrome males.
Twelve males with fragile-X syndrome between the ages of three and 28 years underwent assessment of thyroid function. All 12 subjects demonstrated normal baseline values for thyroid stimulating hormone (TSH), thyroxine, thyroid binding globulin (TBG), and estimated free thyroxine (EFT). Relative to a control group reported in the literature, however, the fragile-X subjects exhibited a blunted T...
متن کاملEarly Onset of Fragile X Associated Tremor and Ataxia Syndrome: A Case Report from Iran
Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults. Case Presentatio...
متن کاملNew insights into fragile X syndrome: from molecules to neurobehaviors.
Fragile X syndrome - a common form of inherited mental retardation - is caused by the loss of the fragile X mental retardation 1 protein (FMRP). FMRP is an RNA-binding protein which forms a messenger ribonucleoprotein (mRNP) complex that associates with translating polyribosomes. It has been proposed that FMRP is involved in synaptic plasticity through the regulation of mRNA transportation and ...
متن کاملThe fragile X syndrome.
We have begun to appreciate that the extent of this disorder is much wider than merely mental retardation. It is also a common cause of learning and emotional problems in mildly affected female carriers with normal IQs. These children present an enormous challenge to all child-care providers, be they in medicine, education, or in various therapy disciplines. Early identification is essential, a...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2013
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.36241