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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
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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

2. Genetically Encoded Chemical Decaging in Living Bacteria

Author:
Liu, Lu; Liu, Yanjun; Zhang, Gong; Ge, Yun; Fan, Xinyuan; Lin, Feng; Wang, Jie; Zheng, Huangtao; Xie, Xiao; Zeng, Xiangmei; Chen, Peng R.
Source:
Biochemistry 2018 v.57 no.4 pp. 446-450
ISSN:
1520-4995
Subject:
gain-of-function mutation,   etc   ; Escherichia coli; antibiotic resistance; bacteria; cycloaddition reactions;     Show all 5 Subjects
Abstract:
... We report the genetically encoded chemical decaging strategy for protein activation in living bacterial cells. In contrast to the metabolically labile photocaging groups inside Escherichia coli, our chemical decaging strategy that relies on the inverse electron-demand Diels–Alder (iDA) reaction is compatible with the intracellular environment of bacteria, which can be a general tool for gain-of-fu ...
DOI:
10.1021/acs.biochem.7b01017

3. Probing Proline Residues in the Prokaryotic Ligand-Gated Ion Channel, ELIC

Author:
Mosesso, Richard; Dougherty, Dennis A.; Lummis, Sarah C. R.
Source:
Biochemistry 2018 v.57 no.27 pp. 4036-4043
ISSN:
1520-4995
Subject:
gain-of-function mutation,   etc   ; Erwinia; Xenopus laevis; calcium; electrophysiology; eukaryotic cells; ion channels; models; mutants; oocytes; proline; receptors;     Show all 12 Subjects
Abstract:
... Erwinia ligand-gated ion channel (ELIC) is a bacterial homologue of vertebrate pentameric ligand-gated ion channels (pLGICs) and has proven to be a valuable model for understanding the structure and function of this important protein family. There is nevertheless still a question about whether molecular details can be accurately extrapolated from this protein to those found in eukaryotes. Here we ...
DOI:
10.1021/acs.biochem.8b00379