KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase

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 comp...

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Gepubliceerd in:Biochem Biophys Res Commun
Hoofdauteurs: Sambuughin, Nyamkhishig, Swietnicki, Wieslaw, Techtmann, Stephen, Matrosova, Vera, Wallace, Tarina, Goldfarb, Lev, Maynard, Ernest
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2012
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5148137/
https://ncbi.nlm.nih.gov/pubmed/22542517
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbrc.2012.04.074
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