Article
Structural and functional deviations in disease-associated p97 mutants.
Journal of structural biology - 1 Aug 2012
Tang Wai Kwan, Xia Di
Abstract excerpt
Missense mutations that occur at the interface between two functional domains in the AAA protein p97 lead to suboptimal performance in its enzymatic activity and impaired intracellular functions, causing human disorders such as inclusion body myopathy associated with Paget's disease of the bone and frontotemporal dementia (IBMPFD). Much progress has been made in characterizing these mutants at cellular,...
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