Molecular mechanisms of fragile X syndrome: a twenty-year perspective

MR Santoro, SM Bray, ST Warren - Annual Review of Pathology …, 2012 - annualreviews.org
Fragile X syndrome (FXS) is a common form of inherited intellectual disability and is one of
the leading known causes of autism. The mutation responsible for FXS is a large expansion …

[HTML][HTML] FMR1 and the fragile X syndrome: human genome epidemiology review

DC Crawford, JM Acuña, SL Sherman - Genetics in medicine, 2001 - Elsevier
The fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is one of
the most common forms of inherited mental retardation. The cognitive, behavioral, and …

Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits

TA Comery, JB Harris, PJ Willems… - Proceedings of the …, 1997 - National Acad Sciences
Fragile X syndrome arises from blocked expression of the fragile X mental retardation
protein (FMRP). Golgi-impregnated mature cerebral cortex from fragile X patients exhibits …

[HTML][HTML] Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function

JC Darnell, KB Jensen, P Jin, V Brown, ST Warren… - Cell, 2001 - cell.com
Loss of fragile X mental retardation protein (FMRP) function causes the fragile X mental
retardation syndrome. FMRP harbors three RNA binding domains, associates with …

FMR1 Protein: Conserved RNP Family Domains and Selective RNA Binding

CT Ashley Jr, KD Wilkinson, D Reines, ST Warren - Science, 1993 - science.org
Fragile X syndrome is the result of transcriptional suppression of the gene FMR1 as a result
of a trinucleotide repeat expansion mutation. The normal function of the FMR1 protein …

Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile‐X syndrome: a quantitative examination

SA Irwin, B Patel, M Idupulapati… - American journal of …, 2001 - Wiley Online Library
Fragile‐X syndrome is a common form of mental retardation resulting from the inability to
produce the fragile‐X mental retardation protein. Qualitative examination of human brain …

Fmr1 knockout mice: a model to study fragile X mental retardation

TDBFX Consorthium, CE Bakker, C Verheij… - Cell, 1994 - Elsevier
Male patients with fragile X syndrome lack FMR1 protein due to silencing of the FMR1 gene
by amplification of a CGG repeat and subsequent methylation of the promoter region. The …

Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice

A Bhattacharya, H Kaphzan, AC Alvarez-Dieppa… - Neuron, 2012 - cell.com
Fragile X syndrome (FXS) is the leading inherited cause of autism and intellectual disability.
Aberrant synaptic translation has been implicated in the etiology of FXS, but most lines of …

The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

D Devys, Y Lutz, N Rouyer, JP Bellocq, JL Mandel - Nature genetics, 1993 - nature.com
Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat
in the FMR–1 gene. In patients with a full mutation, abnormal methylation results in …

Fragile X mental retardation protein regulates translation by binding directly to the ribosome

E Chen, MR Sharma, X Shi, RK Agrawal, S Joseph - Molecular cell, 2014 - cell.com
Fragile X syndrome (FXS) is the most common form of inherited mental retardation, and it is
caused by loss of function of the fragile X mental retardation protein (FMRP). FMRP is an …