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You searched for: Subject "gain-of-function mutation" Remove constraint Subject: "gain-of-function mutation" Journal Biochemistry Remove constraint Journal: Biochemistry Publication Year 2018 Remove constraint Publication Year: 2018 Subject gain-of-function mutation Remove constraint Subject: gain-of-function mutation Text Availability Full Text Remove constraint Text Availability: Full Text
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1. Mechanistic Origins of Enzyme Activation in Human Glucokinase Variants Associated with Congenital Hyperinsulinism

Author:
Sternisha, Shawn M.; Liu, Peilu; Marshall, Alan G.; Miller, Brian G.
Source:
Biochemistry 2018 v.57 no.10 pp. 1632-1639
ISSN:
1520-4995
Subject:
gain-of-function mutation,   etc   ; active sites; enzyme activation; glucokinase; glucose; humans; hyperinsulinemia; mass spectrometry; viscosity;     Show all 9 Subjects
Abstract:
... 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- ...
DOI:
10.1021/acs.biochem.8b00022
PubMed:
29425029
PubMed Central:
PMC5849571