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Article

PSMC5 insufficiency and P320R mutation impair proteasome function.

Human molecular genetics - 18 Aug 2024

Yu Zhong-Qiu, Carmichael Jenny, Collins Galen A, D'Agostino Maria Daniela, Lessard Mathieu, Firth Helen V, Harijan Pooja, Fry Andrew E, Dean John, Zhang Jiuchun, Kini Usha, Goldberg Alfred L, Rubinsztein David C

Abstract excerpt

The ubiquitin-proteasome system mediates the degradation of a wide variety of proteins. Proteasome dysfunction is associated with neurodegenerative diseases and neurodevelopmental disorders in humans. Here we identified mutations in PSMC5, an AAA ATPase subunit of the proteasome 19S regulatory particle, in individuals with neurodevelopmental disorders, which were initially considered as variants of unknown...

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Identifiers

PMID: 38776958
DOI: 10.1093/hmg/ddae085
PMCID: PMC11336065

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PSMC5 insufficiency and P320R mutation impair proteasome function.PMID 38776958Read ↗

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