The Pathophysiology of Fragile X (and What It Teaches Us about Synapses)
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چکیده
منابع مشابه
The pathophysiology of fragile X (and what it teaches us about synapses).
Fragile X is the most common known inherited cause of intellectual disability and autism, and it typically results from transcriptional silencing of FMR1 and loss of the encoded protein, FMRP (fragile X mental retardation protein). FMRP is an mRNA-binding protein that functions at many synapses to inhibit local translation stimulated by metabotropic glutamate receptors (mGluRs) 1 and 5. Recent ...
متن کاملThe Pathophysiology of Fragile X ( and What It Teaches
Fragile X is the most common known inherited cause of intellectual disability and autism, and it typically results from transcriptional silencing of FMR1 and loss of the encoded protein, FMRP (fragile X mental retardation protein). FMRP is an mRNA-binding protein that functions at many synapses to inhibit local translation stimulated by metabotropic glutamate receptors (mGluRs) 1 and 5. Recent ...
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ژورنال
عنوان ژورنال: Annual Review of Neuroscience
سال: 2012
ISSN: 0147-006X,1545-4126
DOI: 10.1146/annurev-neuro-060909-153138