Functional coordination of BET family proteins underlies altered transcription associated with memory impairment in fragile X syndrome
نویسندگان
چکیده
منابع مشابه
Early Onset of Fragile X Associated Tremor and Ataxia Syndrome: A Case Report from Iran
Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults. Case Presentatio...
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 کاملTranscription, translation and fragile X syndrome.
The fragile X mental retardation protein (FMRP) plays a role in the control of local protein synthesis in the dendrites. Loss of its production in fragile X syndrome is associated with transcriptional dysregulation of the gene. Recent work demonstrates that Sp1 and NRF1 transcriptionally control this gene. Other studies reveal how the microRNA pathway and signaling are related to FMRP function ...
متن کاملModeling family dynamics in children with fragile x syndrome.
Few studies have examined the impact of children with genetic disorders and their unaffected siblings on family functioning. In this study, the reciprocal causal links between problem behaviors and maternal distress were investigated in 150 families containing a child with fragile X syndrome (FXS) and an unaffected sibling. Both children's behavior problems appeared to have strong, direct effec...
متن کاملCortisol and Working Memory In Boys With Fragile X Syndrome
Shinkareva for their feedback and support throughout this process. iv ABSTRACT Fragile X Syndrome (FXS) is a neurodevelopmental disorder and the most common cause of inherited intellectual disability. Although FXS is associated with global cognitive impairments, specific deficits in working memory have been reported in young males with FXS. Working memory is an important cognitive process that ...
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ژورنال
عنوان ژورنال: Science Advances
سال: 2021
ISSN: 2375-2548
DOI: 10.1126/sciadv.abf7346