Monday, March 2, 2015

Drosophila used to help characterize a newly identified mutation in FMRP associated with Fragile X syndrome

Okray Z, de Esch CE, Van Esch H, Devriendt K, Claeys A, Yan J, Verbeeck J, Froyen G, Willemsen R, de Vrij FM, Hassan BA. A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function. EMBO Mol Med. 2015 Feb 17. pii: e201404576. PMID: 25693964.

From the abstract: "... In vivo analyses in Drosophila demonstrate that a patient-mimetic mutation alters the localization and function of Dfmrp in neurons, leading to neomorphic neuronal phenotypes."

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