CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.
Scott J.W.; Hawley S.A.; Green K.A.; Anis M.; Stewart G.; Scullion G.A.; Norman D.G.; Hardie D.G.;
J. Clin. Invest. 113:274-284(2004)
Cited for: DOMAIN CBS; AMP-BINDING; ATP-BINDING; CHARACTERIZATION OF VARIANTS WPWS GLN-302; ARG-383 AND ASN-400; CHARACTERIZATION OF VARIANT WPWS GLY-531; FUNCTION;
Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.
Blair E.; Redwood C.; Ashrafian H.; Oliveira M.; Broxholme J.; Kerr B.; Salmon A.; Oestman-Smith I.; Watkins H.;
Hum. Mol. Genet. 10:1215-1220(2001)
Cited for: VARIANTS CMH6 LEU-350 INS AND ARG-383;
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