Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel

Cantu syndrome (CS) is a condition characterized by a range of anatomical defects, including cardiomegaly, hyperflexibility of the joints, hypertrichosis, and craniofacial dysmorphology. CS is associated with multiple missense mutations in the genes encoding the regulatory sulfonylurea receptor 2 (S...

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Bibliographic Details
Published in:J Biol Chem
Main Authors: Cooper, Paige E., McClenaghan, Conor, Chen, Xingyu, Stary-Weinzinger, Anna, Nichols, Colin G.
Format: Artigo
Language:Inglês
Published: American Society for Biochemistry and Molecular Biology 2017
Subjects:
Molecular Bases of Disease
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5655515/
https://ncbi.nlm.nih.gov/pubmed/28842488
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M117.804971
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