Article
Hereditary inclusion body myopathy-linked p97/VCP mutations in the NH2 domain and the D1 ring modulate p97/VCP ATPase activity and D2 ring conformation.
Molecular and cellular biology - 1 Aug 2009
Halawani Dalia, LeBlanc Andréa C, Rouiller Isabelle, Michnick Stephen W, Servant Marc J, Latterich Martin
Abstract excerpt
Hereditary inclusion body myopathy associated with early-onset Paget disease of bone and frontotemporal dementia (hIBMPFTD) is a degenerative disorder caused by single substitutions in highly conserved residues of p97/VCP. All mutations identified thus far cluster within the NH(2) domain or the D1 ring, which are both required for communicating conformational changes to adaptor protein complexes. In this study,...
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