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VCP Multisystem Proteinopathy
Valosin-Containing Protein (VCP) myopathy, also known as Multisystem Proteinopathy (MSP1) or Inclusion Body Myopathy associated with Paget disease of bone and Frontotemporal Dementia (IBMPFD), is a complex, progressive, autosomal dominant adult-onset disorder caused by mutations in the VCP gene. The VCP protein, also called p97, is a highly conserved ATPase crucial for maintaining cellular protein homeostasis (proteostasis) through mechanisms like the ubiquitin-proteasome system (UPS) and autophagy, as well as other functions like membrane fusion and genomic integrity. Pathogenic mutations in…
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