The molecular biology of FMRP: new insights into fragile X syndrome

JD Richter, X Zhao�- Nature Reviews Neuroscience, 2021 - nature.com
Fragile X mental retardation protein (FMRP) is the product of the fragile X mental retardation
1 gene (FMR1), a gene that—when epigenetically inactivated by a triplet nucleotide repeat�…

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] The FMRP regulon: from targets to disease convergence

E Fern�ndez, N Rajan, C Bagni�- Frontiers in neuroscience, 2013 - frontiersin.org
The fragile X mental retardation protein (FMRP) is an RNA-binding protein that regulates
mRNA metabolism. FMRP has been largely studied in the brain, where the absence of this�…

Fragile X syndrome

RJ Hagerman, E Berry-Kravis, HC Hazlett…�- Nature reviews Disease�…, 2017 - nature.com
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism
spectrum disorder, and patients can present with severe behavioural alterations, including�…

Fragile X syndrome: An overview and update of the FMR1 gene

M Mila, MI Alvarez‐Mora, I Madrigal…�- Clinical�…, 2018 - Wiley Online Library
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and
the leading form of the monogenic cause of autism. Fragile X mental retardation type 1�…

The fragile X syndrome: exploring its molecular basis and seeking a treatment

B Bardoni, L Davidovic, M Bensaid…�- Expert reviews in�…, 2006 - cambridge.org
Fragile X syndrome (FXS)–the leading cause of inherited mental retardation–is an X-linked
disease caused by loss of expression of the FMR1 (fragile X mental retardation 1) gene. In�…

Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures

LK Myrick, PY Deng, H Hashimoto…�- Proceedings of the�…, 2015 - National Acad Sciences
Fragile X syndrome (FXS) results in intellectual disability (ID) most often caused by silencing
of the fragile X mental retardation 1 (FMR1) gene. The resulting absence of fragile X mental�…

A decade of molecular studies of fragile X syndrome

WT O'Donnell, ST Warren�- Annual review of neuroscience, 2002 - annualreviews.org
▪ Abstract Fragile X syndrome is one of the most common forms of inherited mental
retardation. In most cases the disease is caused by the methylation-induced transcriptional�…

New perspectives on the biology of fragile X syndrome

T Wang, SM Bray, ST Warren�- Current opinion in genetics & development, 2012 - Elsevier
Fragile X syndrome (FXS) is a trinucleotide repeat disorder caused by a CGG repeat
expansion in FMR1, and loss of its protein product FMRP. Recent studies have provided�…

[HTML][HTML] Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

C Bagni, F Tassone, G Neri…�- The Journal of clinical�…, 2012 - Am Soc Clin Investig
Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is
also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet�…