caa a22 4500 60617754X CHVBK 20210128100752.0 cr unu---uuuuu 210128e20150601xx s 000 0 eng 10.1007/s00018-015-1851-0 doi (NATIONALLICENCE)springer-10.1007/s00018-015-1851-0 La FAM fatale: USP9X in development and disease [Elektronische Daten] [Mariyam Murtaza, Lachlan Jolly, Jozef Gecz, Stephen Wood] 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. The Author(s), 2015 Ubiquitin nationallicence Fat facets nationallicence Embryo nationallicence Stem cells nationallicence Murtaza Mariyam The Eskitis Institute for Drug Discovery, Griffith University, Brisbane, QLD, Australia aut Jolly Lachlan School of Paediatrics and Reproductive Health and The Robinson Research Institute, The University of Adelaide, Adelaide, Australia aut Gecz Jozef School of Paediatrics and Reproductive Health and The Robinson Research Institute, The University of Adelaide, Adelaide, Australia aut Wood Stephen The Eskitis Institute for Drug Discovery, Griffith University, Brisbane, QLD, Australia aut Cellular and Molecular Life Sciences Springer Basel 72/11(2015-06-01), 2075-2089 1420-682X 72:11<2075 2015 72 18 https://doi.org/10.1007/s00018-015-1851-0 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 review-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s00018-015-1851-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Murtaza Mariyam The Eskitis Institute for Drug Discovery, Griffith University, Brisbane, QLD, Australia aut NATIONALLICENCE 700 1- Jolly Lachlan School of Paediatrics and Reproductive Health and The Robinson Research Institute, The University of Adelaide, Adelaide, Australia aut NATIONALLICENCE 700 1- Gecz Jozef School of Paediatrics and Reproductive Health and The Robinson Research Institute, The University of Adelaide, Adelaide, Australia aut NATIONALLICENCE 700 1- Wood Stephen The Eskitis Institute for Drug Discovery, Griffith University, Brisbane, QLD, Australia aut NATIONALLICENCE 773 0- Cellular and Molecular Life Sciences Springer Basel 72/11(2015-06-01), 2075-2089 1420-682X 72:11<2075 2015 72 18