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- W2133810023 endingPage "2089" @default.
- W2133810023 startingPage "2075" @default.
- W2133810023 abstract "Deubiquitylating enzymes (DUBs), act downstream of ubiquitylation. As such, these post-post-translational modifiers function as the final arbitrators of a protein substrate’s ubiquitylation status, thus regulating its fate. In most instances, DUBs moderate the absolute level of a substrate, its locality or activity, rather than being an “all-or-none” phenomenon. Yet, disruption of this quantitative regulation can produce dramatic qualitative differences. The ubiquitin-specific protease 9X (USP9X/FAM) is a substrate-specific DUB, which displays an extraordinarily high level of sequence conservation from Drosophila to mammals. It is primarily the recent revelations of USP9X’s pivotal role in human cancers, both as oncogene or tumour suppressor, in developmental disorders including intellectual disability, epilepsy, autism and developmental delay that has led to a subsequent re-examination of its molecular and cellular functions. Results from experimental animal models have implicated USP9X in neurodegeneration, including Parkinson’s and Alzheimer’s disease, as well as autoimmune diseases. In this review, we describe the current and accumulated knowledge on the molecular, cellular and developmental aspects of USP9X function within the context of the biological consequences during normal development and disease." @default.
- W2133810023 created "2016-06-24" @default.
- W2133810023 creator A5012036880 @default.
- W2133810023 creator A5016228050 @default.
- W2133810023 creator A5040022629 @default.
- W2133810023 creator A5063479912 @default.
- W2133810023 date "2015-02-12" @default.
- W2133810023 modified "2023-10-09" @default.
- W2133810023 title "La FAM fatale: USP9X in development and disease" @default.
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