Article
A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy.
Orphanet journal of rare diseases - 15 Jul 2022
Shmara Alyaa, Perez-Rosendahl Mari, Murphy Kady, Kwon Ashley, Smith Charles, Kimonis Virginia
Abstract excerpt
BACKGROUND: Valosin containing protein (VCP) is an important protein with many vital functions mostly related to the ubiquitin-proteasome system that provides protein quality control. VCP-associated inclusion body myopathy with Paget disease of bone and frontotemporal dementia, also termed VCP disease and multisystem proteinopathy (MSP 1), is an autosomal dominant disorder caused by monoallelic variants in...
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