Advances in molecular analysis of fragile X syndrome
Fragile X syndrome is a common cause of mental retardation that is inherited as an X-linked
dominant disorder with reduced penetrance. Fragile X syndrome has been shown to be …
dominant disorder with reduced penetrance. Fragile X syndrome has been shown to be …
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
A Kenneson, F Zhang, CH Hagedorn… - Human molecular …, 2001 - academic.oup.com
The 5′ untranslated CGG repeat in the fragile X mental retardation-1 (FMR1) gene is
expanded in families with fragile X syndrome, with more than 200 CGGs resulting in mental …
expanded in families with fragile X syndrome, with more than 200 CGGs resulting in mental …
G-quartet-dependent recognition between the FMRP RGG box and RNA
A Ramos, D Hollingworth, A Pastore - Rna, 2003 - rnajournal.cshlp.org
Fragile-X syndrome, the most common monogenic form of mental retardation, is caused by
down-regulation of the expression of Fragile X Mental Retardation Protein (FMRP). FMRP is …
down-regulation of the expression of Fragile X Mental Retardation Protein (FMRP). FMRP is …
Fragile X mental retardation protein FMRP and the RNA export factor NXF2 associate with and destabilize Nxf1 mRNA in neuronal cells
M Zhang, Q Wang, Y Huang - Proceedings of the National …, 2007 - National Acad Sciences
Fragile X syndrome is caused by the inactivation of the X-linked FMR1 gene, leading to the
loss of its encoded protein FMRP. Although macroorchidism and defects in neuronal …
loss of its encoded protein FMRP. Although macroorchidism and defects in neuronal …
Fmr1 deficiency promotes age-dependent alterations in the cortical synaptic proteome
B Tang, T Wang, H Wan, L Han, X Qin… - Proceedings of the …, 2015 - National Acad Sciences
Fragile X syndrome (FXS) is an X-linked neurodevelopmental disorder characterized by
severe intellectual disability and other symptoms including autism. Although caused by the …
severe intellectual disability and other symptoms including autism. Although caused by the …
Learning and behavioral deficits associated with the absence of the fragile X mental retardation protein: what a fly and mouse model can teach us
AR Santos, AK Kanellopoulos, C Bagni - Learning & memory, 2014 - learnmem.cshlp.org
The Fragile X syndrome (FXS) is the most frequent form of inherited mental disability and is
considered a monogenic cause of autism spectrum disorder. FXS is caused by a triplet …
considered a monogenic cause of autism spectrum disorder. FXS is caused by a triplet …
Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells
Mutation of FMR1 results in fragile X mental retardation 1. The most common FMR1 mutation
is expansion of a CGG repeat tract at the 5 end of FMR1 (refs 2, 3, 4), which leads to …
is expansion of a CGG repeat tract at the 5 end of FMR1 (refs 2, 3, 4), which leads to …
[HTML][HTML] Aberrant RNA translation in fragile X syndrome: From FMRP mechanisms to emerging therapeutic strategies
Research in the past decades has unfolded the multifaceted role of Fragile X mental
retardation protein (FMRP) and how its absence contributes to the pathophysiology of …
retardation protein (FMRP) and how its absence contributes to the pathophysiology of …
Transcription of the FMR1 gene in individuals with fragile X syndrome
F Tassone, RJ Hagerman… - American journal of …, 2000 - Wiley Online Library
Fragile X syndrome generally arises as a consequence of a large expansion of a CGG
trinucleotide repeat element that is located in the GC‐rich promoter region of the fragile X …
trinucleotide repeat element that is located in the GC‐rich promoter region of the fragile X …
Regulatory discrimination of mRNAs by FMRP controls mouse adult neural stem cell differentiation
Fragile X syndrome (FXS) is caused by the loss of fragile X mental retardation protein
(FMRP), an RNA binding protein whose deficiency impacts many brain functions, including …
(FMRP), an RNA binding protein whose deficiency impacts many brain functions, including …