De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
Tamar Harel,
Camille Spicher,
Elisabeth Scheer
et al.
Abstract:Deubiquitination is critical for the proper functioning of numerous biological pathways such as DNA repair, cell cycle progression, transcription, signal transduction, and autophagy. Accordingly, pathogenic variants in deubiquitinating enzymes (DUBs) have been implicated in neurodevelopmental disorders (ND) and congenital abnormalities. ATXN7L3 is a component of the DUB module of the SAGA complex, and two other related DUB modules, and serves as an obligate adaptor protein of 3 ubiquitin-specific proteases (US… Show more
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