Trapping of messenger RNA by Fragile X Mental Retardation protein into cytoplasmic granules induces translation repression

R Mazroui, ME Huot, S Tremblay, C Filion… - Human molecular …, 2002 - academic.oup.com
Abstract Absence of Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein,
is responsible for the Fragile X syndrome, the most common form of inherited mental …

Tissue specific expression of FMR–1 provides evidence for a functional role in fragile X syndrome

HL Hinds, CT Ashley, JS Sutcliffe, DL Nelson… - Nature …, 1993 - nature.com
We have performed mRNA in situ hybridization studies and northern blot analysis in the
mouse and human, respectively, to determine the normal gene expression patterns of FMR …

Transcription-Associated R-Loop Formation across the Human FMR1 CGG-Repeat Region

EW Loomis, LA Sanz, F Chédin, PJ Hagerman - PLoS genetics, 2014 - journals.plos.org
Expansion of a trinucleotide (CGG) repeat element within the 5′ untranslated region (5′
UTR) of the human FMR1 gene is responsible for a number of heritable disorders operating …

Fragile X syndrome

KB Garber, J Visootsak, ST Warren - European journal of human …, 2008 - nature.com
Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated
with intellectual and emotional disabilities ranging from learning problems to mental …

A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins …

A Schenck, B Bardoni, A Moro… - Proceedings of the …, 2001 - National Acad Sciences
The absence of the fragile X mental retardation protein (FMRP), encoded by the FMR1 gene,
is responsible for pathologic manifestations in the Fragile X Syndrome, the most frequent …

Fragile X syndrome: from molecular pathology to therapy

T Maurin, S Zongaro, B Bardoni - Neuroscience & Biobehavioral Reviews, 2014 - Elsevier
Abstract Fragile X Syndrome (FXS) is the most common form of inherited intellectual
disability due to the silencing of the FMR1 gene encoding FMRP (Fragile X Mental …

[HTML][HTML] The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses

F Zalfa, M Giorgi, B Primerano, A Moro, A Di Penta… - Cell, 2003 - cell.com
The Fragile X syndrome, which results from the absence of functional FMRP protein, is the
most common heritable form of mental retardation. Here, we show that FMRP acts as a …

Epigenetics of fragile X syndrome and fragile X‐related disorders

CM Kraan, DE Godler, DJ Amor - Developmental Medicine & …, 2019 - Wiley Online Library
The fragile X mental retardation 1 gene (FMR 1)‐related disorder fragile X syndrome (FXS)
is the most common heritable form of cognitive impairment and the second most common …

HITS-CLIP in various brain areas reveals new targets and new modalities of RNA binding by fragile X mental retardation protein

T Maurin, K Lebrigand, S Castagnola… - Nucleic acids …, 2018 - academic.oup.com
Fragile X syndrome (FXS), the most common form of inherited intellectual disability, is due to
the functional deficiency of the fragile X mental retardation protein (FMRP), an RNA-binding …

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 …