Results 51 to 60 of about 23,308 (254)
Fragile X Mental Retardation Protein in the Driver's Seat [PDF]
Cerebral Cortex, 2009 Fragile X syndrome (FXS), the most common single gene cause of mental retardation, is securely associated with mutations in the fragile X mental retardation 1 gene, FMR1 (Fu et al. 1991; Verkerk et al. 1991; Feng et al. 1997; Musumeci et al. 1999; Hagerman et al. 2009). Nevertheless, identification of consequences of loss of the protein product of FMR1,
openaire +3 more sources
Metabonomics adds a new dimension to fragile X syndrome [PDF]
, 2011 Fragile X syndrome is the most common cause of inherited intellectual disability, but the underlying pathophysiology is complex and effective treatments are lacking.
Braat, Sien +2 more
core +2 more sources
Histone modifications and FMR role in Fragile X syndrome: A review [PDF]
, 2023 Fragile X syndrome is the most common cause of genetically acquired mental disability and one of the most frequent single-gene disorders. FXS serves as an excellent model disorder for studies investigating disturbed molecular mechanisms and synapse ...
Debarati Roy Chowdhury +2 more
core +3 more sources
Toward Fulfilling the Promise of Molecular Medicine in Fragile X [PDF]
, 2010 Fragile X syndrome (FXS) is the most common inherited form of mental retardation and a leading known cause of autism. It is caused by loss of expression of the fragile X mental retardation protein (FMRP), an RNA-binding protein that negatively regulates ...
Bakker CE +10 more
core +1 more source
Fragile X mental retardation protein regulates trans-synaptic signaling in Drosophila
Disease Models & Mechanisms, 2013 SUMMARY Fragile X syndrome (FXS), the most common inherited determinant of intellectual disability and autism spectrum disorders, is caused by loss of the fragile X mental retardation 1 (FMR1) gene product (FMRP), an mRNA-binding translational repressor.
Samuel H. Friedman +3 more
doaj +1 more source
Cellular distribution of the fragile X mental retardation protein in the mouse brain. [PDF]
J Comp Neurol, 2017 ABSTRACTThe fragile X mental retardation protein (FMRP) plays an important role in normal brain development. Absence of FMRP results in abnormal neuronal morphologies in a selected manner throughout the brain, leading to intellectual deficits and sensory dysfunction in the fragile X syndrome (FXS). Despite FMRP importance for proper brain function, its
Zorio DA +4 more
europepmc +4 more sources
A quantitative homogeneous assay for fragile X mental retardation 1 protein [PDF]
Journal of Neurodevelopmental Disorders, 2013 Abstract Background Hypermethylation of the fragile X mental retardation 1 gene FMR1 results in decreased expression of FMR1 protein FMRP, which is the underlying cause of Fragile X syndrome – an incurable neurological disorder characterized by mental retardation, anxiety, epileptic episodes and autism.
Andreas Weiss +5 more
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Le syndrome de l'X fragile : Une protéine absente et 1001 ARNm déboussolés [PDF]
, 2006 Le syndrome du X fragile, première cause de retard mental héréditaire, est une maladie monogénique liée au chromosome X. Le syndrome est causé par l’inactivation du gène Fragile Mental Retardation 1(FMR1) entraînant l’absence de la protéine FMRP dont le ...
Davidovic, Laetitia +4 more
core +1 more source
Reducing histone acetylation rescues cognitive deficits in a mouse model of Fragile X syndrome
Nature Communications, 2018 Loss of fragile X mental retardation protein (FMRP) leads to fragile X syndrome, associated with cognitive dysfunction. Here the authors show that mice lacking FMRP show reduced hippocampal neurogenesis and cognitive deficits, which can be rescued by ...
Yue Li +9 more
doaj +1 more source
Fragile X mental retardation protein controls ion channel expression and activity [PDF]
, 2016 Fragile X-associated disorders are a family of genetic conditions resulting from the partial or complete loss of fragile X mental retardation protein (FMRP).
Ferron, L
core +1 more source