Multisystem Proteinopathy Due to VCP 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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Detalles Bibliográficos
Autores principales: Pfeffer, Gerald, Lee, Grace, Pontifex, Carly S., Fanganiello, Roberto D., Peck, Allison, Weihl, Conrad C., Kimonis, Virginia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222868/
https://www.ncbi.nlm.nih.gov/pubmed/35741724
http://dx.doi.org/10.3390/genes13060963

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222868/
https://www.ncbi.nlm.nih.gov/pubmed/35741724
http://dx.doi.org/10.3390/genes13060963

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