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- Sternisha, Shawn M.; Liu, Peilu; Marshall, Alan G.; Miller, Brian G.
- Biochemistry 2018 v.57 no.10 pp. 1632-1639
- gain-of-function mutation, etc ; active sites; enzyme activation; glucokinase; glucose; humans; hyperinsulinemia; mass spectrometry; viscosity; Show all 9 Subjects
- ... Human glucokinase (GCK) acts as the body’s primary glucose sensor and plays a critical role in glucose homeostatic maintenance. Gain-of-function mutations in gck produce hyperactive enzyme variants that cause congenital hyperinsulinism. Prior biochemical and biophysical studies suggest that activated disease variants can be segregated into two mechanistically distinct classes, termed α-type and β- ...
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