Fragile X mental retardation protein levels are decreased in major psychiatric disorders
نویسندگان
چکیده
منابع مشابه
Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation.
BACKGROUND The fragile X premutation provides a unique opportunity for the study of genetic and brain mechanisms of behavior and cognition in the context of neurodevelopment and neurodegeneration. Although the neurodegenerative phenotype, fragile X-associated tremor/ataxia syndrome, is well described, evidence of a causal link between the premutation and psychiatric disorder earlier in life, cl...
متن کاملFragile X mental retardation syndrome: structure of the KH1-KH2 domains of fragile X mental retardation protein.
Fragile X syndrome is the most common form of inherited mental retardation in humans, with an estimated prevalence of about 1 in 4000 males. Although several observations indicate that the absence of functional Fragile X Mental Retardation Protein (FMRP) is the underlying basis of Fragile X syndrome, the structure and function of FMRP are currently unknown. Here, we present an X-ray crystal str...
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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, the fragile X mental retardation protein ...
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The FMR1 protein product, FMRP, is an mRNA binding protein associated with translational inhibition of target transcripts. One FMRP target is the amyloid precursor protein (APP) mRNA, and APP levels are elevated in Fmr1 KO mice. Given that elevated APP protein expression can elicit Alzheimer's disease (AD) in patients and model systems, we evaluated whether FMRP expression might be altered in A...
متن کاملMajor defects in neocortical GABAergic inhibitory circuits in mice lacking the fragile X mental retardation protein.
This study focused on the cytoarchitectonic and morphological differences in GABA-releasing interneurons between adult Fmr1 knock-out (FMR1KO) and wild-type (WT) mice in the somatosensory cortex. Our results showed a robust reorganization of neocortical, but not hippocampal inhibitory circuits in the FMR1KO mouse. The reorganization is characterized by a significant reduction (20%, p<0.001) in ...
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ژورنال
عنوان ژورنال: Schizophrenia Research
سال: 2010
ISSN: 0920-9964
DOI: 10.1016/j.schres.2010.07.017