Genetic/Environmental Influences in Fragile X Disease
نویسندگان
چکیده
منابع مشابه
Fragile X mental retardation protein expression in Alzheimer’s disease
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 کاملFragile X syndrome and fragile X-associated disorders
Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A ...
متن کاملAutism in fragile X females.
We present two women with the fragile X syndrome (Martin-Bell syndrome) and autism. Both are mentally retarded, one mildly and one severely. Cytogenetic studies showed a high percentage of lymphocytes with the fragile X chromosome and inactivation occurring preferentially in the normal X chromosome. Autism is shown to be a severe behavioral and cognitive manifestation of the fragile X syndrome ...
متن کاملProtein–RNA Interaction Links Fragile X Syndrome and Alzheimer Disease
0378 No two brain diseases would seem to be more different than Alzheimer disease (AD) and fragile X syndrome (FXS). AD affects the old, while FXS occurs in childhood. AD affects about 4 million Americans of both sexes, while FXS affects fewer than 50,000, primarily boys. And while the cause of most cases of AD is unknown, the gene responsible for virtually every case of FXS has been known for ...
متن کاملFragile X mental retardation protein: from autism to neurodegenerative disease
INTRODUCTION Fragile X mental retardation protein (FMRP) is a RNA binding protein, the absence of which due to silencing of the FMR1 gene causes fragile X syndrome, an X-linked neurodevelopmental disorder (Bassell and Warren, 2008; Bhakar et al., 2012; Santoro et al., 2012). FMRP regulates the transport, stability and translation of its mRNA targets. Loss of FMRP alters translational control an...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2002
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-16-3-4