Article
Metabolic profiling reveals dysregulated lipid metabolism and potential biomarkers associated with the development and progression of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Dec 2020
Zafarullah Marwa, Palczewski Grzegorz, Rivera Susan M, Hessl David R, Tassone Flora
Abstract excerpt
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder associated with the FMR1 premutation. It is currently unknown when, and if, individual premutation carriers will develop FXTAS. Thus, with the aim of identifying biomarkers for early diagnosis, development, and progression of FXTAS, we performed global metabolomic profiling of premutation carriers (PM) who, as part of an ongoing...
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