Results 21 to 30 of about 22,945 (246)
SnapShot: FMRP Interacting Proteins [PDF]
Cell, 2014 The Fragile X syndrome, caused by the absence or mutation of fragile X mental retardation protein, FMRP, is a the common component of inherited intellectual disability and autism. This SnapShot surveys the protein interaction partners of FMRP, focusing on the cellular pathways in which they are involved.
Pasciuto, E, BAGNI, CLAUDIA
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Mammalian FMRP S499 Is Phosphorylated by CK2 and Promotes Secondary Phosphorylation of FMRP [PDF]
eneuro, 2016 AbstractThe fragile X mental retardation protein (FMRP) is an mRNA-binding regulator of protein translation that associates with 4-6% of brain transcripts and is central to neurodevelopment. Autism risk genes’ transcripts are overrepresented among FMRP-binding mRNAs, and FMRP loss-of-function mutations are responsible for fragile X syndrome, the most ...
Christopher M. Bartley +7 more
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FMRP RNA targets: identification and validation [PDF]
Genes, Brain and Behavior, 2005 The Fragile X Syndrome is caused by the loss of function of the FMR1 gene (Pieretti et al. 1991. Cell 66, 817–822; O'Donnell & Warren 2002. Annu Rev Neurosci 25, 315–338]. Identification of the RNA targets to which FMRP binds is a key step in understanding the function of the protein and the cellular defects caused by its absence (Darnell et al ...
J C, Darnell +2 more
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FMRP and myelin protein expression in oligodendrocytes [PDF]
Molecular and Cellular Neuroscience, 2013 Fragile X syndrome (FXS) is caused by lack of expression of fragile X mental retardation protein (FMRP), the product of the Fmr1 gene. In many cases FXS is associated with abnormalities in CNS myelination. Although FMRP is expressed in oligodendrocyte progenitor cells and immature oligodendrocytes (OLGs) previous studies have not detected it in mature,
Anthony, Giampetruzzi +2 more
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Fmrp regulates oligodendrocyte lineage cell specification and differentiation [PDF]
Glia, 2021 AbstractNeurodevelopment requires the precise integration of a wide variety of neuronal and glial cell types. During early embryonic development, motor neurons and then oligodendrocyte precursor cells (OPCs) are specified from neural progenitors residing in the periventricular pMN progenitor domain of the spinal cord.
Caleb A. Doll, Kayt Scott, Bruce Appel
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Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding. [PDF]
, 2016 Fragile X premutation alleles have 55-200 CGG repeats in the 5' UTR of the FMR1 gene. Altered zinc (Zn) homeostasis has been reported in fibroblasts from >60 years old premutation carriers, in which Zn supplementation significantly restored Zn ...
Gane, Louise W +8 more
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Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]
, 2014 Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J +2 more
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MOV10 and FMRP Regulate AGO2 Association with MicroRNA Recognition Elements
Cell Reports, 2014 Summary: The fragile X mental retardation protein FMRP regulates translation of its bound mRNAs through incompletely defined mechanisms. FMRP has been linked to the microRNA pathway, and we show here that it associates with the RNA helicase MOV10, also ...
Phillip J. Kenny +8 more
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FMRP phosphorylation modulates neuronal translation through YTHDF1
Molecular 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
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Journal of Biomedical Science, 2011 Background Fragile X syndrome (FXS), the most commonly inherited mental retardation and single gene cause of autistic spectrum disorder, occurs when the Fmr1 gene is mutated.
Wells David +6 more
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