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Article

ALS-linked CCNF variant disrupts motor neuron ubiquitin homeostasis.

Human molecular genetics - 4 Jul 2023

Farrawell Natalie E, Bax Monique, McAlary Luke, McKenna Jessie, Maksour Simon, Do-Ha Dzung, Rayner Stephanie L, Blair Ian P, Chung Roger S, Yerbury Justin J, Ooi Lezanne, Saunders Darren N

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are fatal neurodegenerative disorders that share pathological features, including the aberrant accumulation of ubiquitinated protein inclusions within motor neurons. Previously, we have shown that the sequestration of ubiquitin (Ub) into inclusions disrupts Ub homeostasis in cells expressing ALS-associated variants superoxide dismutase 1...

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PMID: 37220877
DOI: 10.1093/hmg/ddad063
PMCID: PMC10652331

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