A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities
Author:
Funder
Japan Agency for Medical Research and Development
MEXT | Japan Society for the Promotion of Science
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-023-01209-2.pdf
Reference28 articles.
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2. Schauer NJ, Magin RS, Liu X, Doherty LM, Buhrlage SJ. Advances in Discovering Deubiquitinating Enzyme (DUB) Inhibitors. J Med Chem. 2020;63:2731–50.
3. Dufner A, Knobeloch KP. Ubiquitin-specific protease 8 (USP8/UBPy): a prototypic multidomain deubiquitinating enzyme with pleiotropic functions. Biochem Soc Trans. 2019;47:1867–79.
4. Durcan TM, Tang MY, Perusse JR, Dashti EA, Aguileta MA, McLelland GL, et al. USP8 regulates mitophagy by removing K6-linked ubiquitin conjugates from parkin. EMBO J. 2014;33:2473–91.
5. Pearson G, Soleimanpour SA. A ubiquitin-dependent mitophagy complex maintains mitochondrial function and insulin secretion in beta cells. Autophagy. 2018;14:1160–61.
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