Article ID Journal Published Year Pages File Type
5507667 Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms 2017 36 Pages PDF
Abstract
Our findings suggest that the characterization of the expression levels of the different FMR1 isoforms is fundamental for understanding the regulation of the FMR1 gene as imbalance in their expression could lead to an altered functional diversity with neurotoxic consequences. Their characterization will also help to elucidating the mechanism(s) by which “toxic gain of function” of the FMR1 mRNA may play a role in FXTAS and/or in the other FMR1-associated conditions.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
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