Article
Fragile X premutation rCGG repeats impair synaptic growth and synaptic transmission at Drosophila larval neuromuscular junction.
Human molecular genetics - 28 Aug 2021
Bhat Sajad A, Yousuf Aadil, Mushtaq Zeeshan, Kumar Vimlesh, Qurashi Abrar
Abstract excerpt
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disease that develops in some premutation (PM) carriers of the FMR1 gene with alleles bearing 55-200 CGG repeats. The discovery of a broad spectrum of clinical and cell-developmental abnormalities among PM carriers with or without FXTAS and in model systems suggests that neurodegeneration seen in FXTAS could be the inevitable...
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