[HTML][HTML] Conserved functional consequences of disease-associated mutations in the slide helix of Kir6. 1 and Kir6. 2 subunits of the ATP-sensitive potassium channel
PE Cooper, C McClenaghan, X Chen… - Journal of Biological …, 2017 - ASBMB
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 (SUR2) subunits of the ATP-sensitive K+(K ATP)
channel as well as two mutations (V65M and C176S) in the Kir6. 1 (KCNJ8) subunit.
Previous analysis of leucine and alanine substitutions at the Val-65-equivalent site (Val-64) …
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 (SUR2) subunits of the ATP-sensitive K+(K ATP)
channel as well as two mutations (V65M and C176S) in the Kir6. 1 (KCNJ8) subunit.
Previous analysis of leucine and alanine substitutions at the Val-65-equivalent site (Val-64) …
