Results 21 to 30 of about 13,308 (213)
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 CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability [PDF]
Complex Psychiatry, 2020 There is increasing awareness of the role genetic risk variants have in mediating vulnerability to psychiatric disorders such as schizophrenia and autism. Many of these risk variants encode synaptic proteins, influencing biological pathways of the postsynaptic density and, ultimately, synaptic plasticity.
Clifton, Nicholas E. +4 more
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The Different FMRP Isoforms Bind with High Affinity to the G-Quadruplex formed by the FMRP mRNA [PDF]
Biophysical Journal, 2013 Fragile X syndrome, the most common form of inherited mental retardation in humans, affects about 1 in 3000 males and 1 in 5000 females. It is caused by the loss of expression of the fragile X mental retardation protein (FMRP) due to a CGG trinucleotide repeat expansion in the 5'-untranslated region (UTR) of the fragile x mental retardation-1 (fmr1 ...
Blice-Baum, Anna, Mihailescu, Rita
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Altered inflammatory response in FMRP-deficient microglia [PDF]
iScience, 2021 Fragile X syndrome (FXS) is an inherited intellectual disability with a high risk for comorbid autism spectrum disorders. Since FXS is a genetic disease, patients are more susceptible to environmental factors aggravating symptomatology. However, this confounding interaction between FXS environmental and genetic risk factors is under-investigated. Here,
Jennifer M. Parrott +2 more
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Developmentally-programmed FMRP expression in oligodendrocytes: a potential role of FMRP in regulating translation in oligodendroglia progenitors [PDF]
Human Molecular Genetics, 2003 The fragile X mental retardation protein (FMRP) is a selective RNA-binding protein whose function is implicated in regulating protein synthesis of its mRNA targets. The lack of FMRP leads to abnormal synapse development in the brain and impaired learning/memory.
Houping, Wang +6 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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The 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
Frontiers in Molecular Neuroscience, 2018 Fragile X syndrome (FXS) is the leading monogenic cause of autism and intellectual disability. The disease arises through loss of fragile X mental retardation protein (FMRP), which normally exhibits peak expression levels in early-use critical periods ...
James C. Sears +3 more
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The enigma of nuclear FMRP: facts and myths. [PDF]
Front Cell Dev BiolKhandjian EW, Davidovic L.
europepmc +2 more sources
FMRP and its target RNAs: fishing for the specificity [PDF]
NeuroReport, 2004 Learning and memory difficulties observed in patients with fragile X syndrome, as well as in a mouse model for the syndrome, are partially due to impaired translational regulation of neuronal mRNAs encoding key molecules for the synaptic structure and function.
Veneri M., Zalfa F., BAGNI, CLAUDIA
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