Article

Skeletal muscle cell protein dysregulation highlights the pathogenesis mechanism of myopathy-associated p97/VCP R155H mutations.

2022-10-31

Abstract excerpt

<h4>Background: </h4> p97/VCP, a hexametric member of the AAA-ATPase super family, has been associated with a wide range of cellular protein pathways such as proteasomal degradation, unfolding of polyubiquitinated proteins, and autophagosome maturation. Autosomal dominant p97/VCP mutations cause a rare hereditary multisystem disorder called IBMPFD/ALS (Inclusion Body Myopathy with Paget’s Disease and Frontotempora...

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Literature Corpus work: 9836ca59-0e7d-5a8e-9298-bb839afa4118
DOI: 10.21203/rs.3.rs-2200227/v1

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