Genotype‐phenotype study in patients with valosin‐containing protein mutations associated with multisystem proteinopathy
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DOI: 10.1111/cge.13095
Abstract: Mutations in valosin‐containing protein (VCP), an ATPase involved in protein degradation and autophagy, cause VCP disease, a progressive autosomal dominant adult onset multisystem proteinopathy. The goal of this study is to examine if phenotypic differences… read more here.
Keywords: multisystem proteinopathy; valosin containing; containing protein; disease ... See more keywords
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations
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DOI: 10.1172/jci97103
Abstract: Multisystem proteinopathy (MSP) involves disturbances of stress granule (SG) dynamics and autophagic protein degradation that underlie the pathogenesis of a spectrum of degenerative diseases that affect muscle, brain, and bone. Specifically, identical mutations in the… read more here.
Keywords: tia1 variant; tia1 n357s; multisystem proteinopathy; sqstm1 ... See more keywords
Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy
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DOI: 10.1212/nxg.0000000000200037
Abstract: Background and Objectives Missense variants of the valosin-containing protein (VCP) gene cause a progressive, autosomal dominant disease termed VCP multisystem proteinopathy (MSP1). The disease is a constellation of clinical features including inclusion body myopathy (IBM),… read more here.
Keywords: hispanic families; r159h vcp; vcp multisystem; frontotemporal dementia ... See more keywords