[Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family].
Zaragoza, Spain. In Med Clin (barc), Feb 2016
INTRODUCTION: The dynamic increase in the number of triplet repeats of cytosine-guanine-guanine (CGG) in the FMR1 gene mutation is responsible for three OMIM syndromes with a distinct clinical phenotype: Fragile X syndrome (FXS) and two pathologies in adult carriers of the premutation (55-200 CGG repeats): Primary ovarian insufficiency (FXPOI) and tremor-ataxia syndrome (FXTAS) associated with FXS.
Human pluripotent stem cell models of Fragile X syndrome.
Madison, United States. In Mol Cell Neurosci, Dec 2015
The causal mutation in FXS is a trinucleotide CGG repeat expansion in the FMR1 gene that leads to human specific epigenetic silencing and loss of Fragile X Mental Retardation Protein (FMRP) expression.
Dysregulation and restoration of translational homeostasis in fragile X syndrome.
Worcester, United States. In Nat Rev Neurosci, Oct 2015
Fragile X syndrome (FXS), the most-frequently inherited form of intellectual disability and the most-prevalent single-gene cause of autism, results from a lack of fragile X mental retardation protein (FMRP), an RNA-binding protein that acts, in most cases, to repress translation.
Epigenetics and Triplet-Repeat Neurological Diseases.
London, United Kingdom. In Front Neurol, 2014
The association between repetitive regions and disease was emphasized following the discovery of abnormal trinucleotide repeats underlying spinal and bulbar muscular atrophy (Kennedy's disease) and fragile X syndrome of mental retardation (FRAXA) in 1991.
SnapShot: FMRP interacting proteins.
Leuven, Belgium. In Cell, 2014
The Fragile X syndrome, caused by the absence or mutation of fragile X mental retardation protein, FMRP, is a the common component of inherited intellectual disability and autism.