Results 31 to 40 of about 21,903 (205)

FMRP phosphorylation modulates neuronal translation through YTHDF1

open access: yesMolecular Cell, 2023
RNA-binding proteins (RBPs) control messenger RNA fate in neurons. Here, we report a mechanism that the stimuli-induced neuronal translation is mediated by phosphorylation of a YTHDF1-binding protein FMRP. Mechanistically, YTHDF1 can condense with ribosomal proteins to promote the translation of its mRNA targets.
Zhongyu, Zou   +16 more
openaire   +2 more sources

Transcriptomic signatures of neuronal differentiation and their association with risk genes for autism spectrum and related neuropsychiatric disorders. [PDF]

open access: yes, 2016
Genes for autism spectrum disorders (ASDs) are also implicated in fragile X syndrome (FXS), intellectual disabilities (ID) or schizophrenia (SCZ), and converge on neuronal function and differentiation. The SH-SY5Y neuroblastoma cell line, the most widely
Chiocchetti, AG   +10 more
core   +1 more source

FMRP regulates neuronal migration via MAP1B

open access: yes, 2023
Abstract The Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability, and the first monogenic cause of Autism Spectrum Disorder. FXS is caused by the absence of the RNA-binding protein FMRP (Fragile X Messenger Ribonucleoprotein).
S. Messaoudi   +7 more
openaire   +1 more source

Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype

open access: yesThe Application of Clinical Genetics, 2021
César Payán-Gómez,1 Julian Ramirez-Cheyne,2,3 Wilmar Saldarriaga2,3 1Deparment of Biology, Faculty of Natural Sciences, Universidad del Rosario, Bogotá, Colombia; 2Health Faculty, Universidad del Valle, Cali, Colombia; 3Hospital Universitario del Valle ...
Payán-Gómez C   +2 more
doaj  

Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome. [PDF]

open access: yes, 2012
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability due to an expansion in the full mutation range (>200 CGG repeats) of the promoter region of the FMR1 gene leading to gene silencing.
Borodyanskara, Mariya   +3 more
core   +3 more sources

SnapShot: FMRP mRNA Targets and Diseases

open access: yesCell, 2014
FMRP, or fragile X mental retardation protein is an RNA-binding protein. Mutations in the FMRP protein have been associated with neurological disease as have a number of its mRNA-binding targets. This SnapShot presents 40 bona fide FMRP targets for which mRNA binding and protein regulation have been robustly reported in mammals along with the diseases ...
Pasciuto, E, BAGNI, CLAUDIA
openaire   +4 more sources

Phosphorylation of FMRP inhibits association with Dicer [PDF]

open access: yesRNA, 2009
Fragile X syndrome is caused by an absence of the protein product of the fragile X mental retardation gene (FMR1). The fragile X mental retardation protein (FMRP) is an RNA-binding protein that regulates translation of associated mRNAs; however, the mechanism for this regulation remains unknown.
Anne, Cheever, Stephanie, Ceman
openaire   +2 more sources

A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse [PDF]

open access: yes, 2004
Fragile X Syndrome is the most common form of\ud inherited mental retardation. It is also known for having\ud a substantial behavioral morbidity, including autistic features. In humans, Fragile X Syndrome is almost always\ud caused by inactivation of the
Bauchwitz, Dr. Robert P.
core   +1 more source

FMRP differentially regulates BK channels [PDF]

open access: yesJournal of General Physiology, 2020
Study suggests that the fragile X syndrome-associated protein FMRP can interact with different types of BK channels and modulate their kinetics in different ways.
openaire   +1 more source

Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions.

open access: yesPLoS ONE, 2019
Fragile X syndrome, the leading heritable form of intellectual disability, is caused by hypermethylation and transcriptional silencing of large (CGG) repeat expansions (> 200 repeats) in the 5' untranslated region of the fragile X mental retardation 1 ...
Kyoungmi Kim   +8 more
doaj   +1 more source

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