Multisystem Proteinopathy Due to <i>VCP</i> Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis

Multisystem Proteinopathy Due to <i>VCP</i> Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis

In this work, we review clinical features and genetic diagnosis of diseases caused by mutations in the gene encoding valosin-containing protein (VCP/p97), the functionally diverse AAA-ATPase. VCP is crucial to a multitude of cellular functions including protein quality control, stress granule format...

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Bibliographic Details
Main Authors: Gerald Pfeffer, Grace Lee, Carly S. Pontifex, Roberto D. Fanganiello, Allison Peck, Conrad C. Weihl, Virginia Kimonis
Format: Article
Language:English
Published: MDPI AG 2022-05-01
Series:Genes
Subjects:
VCP
multisystem proteinopathy
myopathy
dementia
amyotrophic lateral sclerosis
genetics
Online Access:https://www.mdpi.com/2073-4425/13/6/963

Internet

https://www.mdpi.com/2073-4425/13/6/963

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