Article
KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase.
Biochemical and biophysical research communications - 18 May 2012
Sambuughin Nyamkhishig, Swietnicki Wieslaw, Techtmann Stephen, Matrosova Vera, Wallace Tarina, Goldfarb Lev, Maynard Ernest
Abstract excerpt
Autosomal dominant mutations in BTB and Kelch domain containing 13 protein (KBTBD13) are associated with a new type of Nemaline Myopathy (NEM). NEM is a genetically heterogeneous group of muscle disorders. Mutations causing phenotypically distinct NEM variants have previously been identified in components of muscle thin filament. KBTBD13 is a muscle specific protein composed of an N terminal BTB domain and a C...
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