Enzymes involved in l-lactate metabolism in humans

M Adeva, M González-Lucán, M Seco, C Donapetry - Mitochondrion, 2013 - Elsevier
Abstract l-lactate formation occurs via the reduction of pyruvate catalyzed by lactate
dehydrogenase. l-lactate removal takes place via its oxidation into pyruvate, which may be …

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

J Wessel, AY Chu, SM Willems, S Wang… - Nature …, 2015 - nature.com
Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the
role of coding variation on these traits by analysis of variants on the HumanExome …

Glucose metabolism-related gene polymorphisms as the risk predictors of type 2 diabetes

C Li, Y Yang, X Liu, Z Li, H Liu, Q Tan - Diabetology & Metabolic …, 2020 - Springer
Type 2 diabetes mellitus (T2DM) is a complex polygenic metabolic disease characterized by
elevated blood glucose. Multiple environmental and genetic factors can increase the risk of …

Association of risk variants for type 2 diabetes and hyperglycemia with gestational diabetes

H Huopio, H Cederberg, J Vangipurapu… - European journal of …, 2013 - academic.oup.com
Objective The aim of this study was to investigate the association of risk variants for type 2
diabetes (T2D) and hyperglycemia with gestational diabetes (GDM). Design and methods …

Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus

A Mahajan, X Sim, HJ Ng, A Manning, MA Rivas… - PLoS …, 2015 - journals.plos.org
Genome wide association studies (GWAS) for fasting glucose (FG) and insulin (FI) have
identified common variant signals which explain 4.8% and 1.2% of trait variance …

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

V Iotchkova, J Huang, JA Morris, D Jain, C Barbieri… - Nature …, 2016 - nature.com
Large-scale whole-genome sequence data sets offer novel opportunities to identify genetic
variation underlying human traits. Here we apply genotype imputation based on whole …

Identification of structural motifs critical for human G6PC2 function informed by sequence analysis and an AlphaFold2-predicted model

EM Hawes, DP Claxton, JK Oeser… - Bioscience …, 2024 - portlandpress.com
G6PC2 encodes a glucose-6-phosphatase (G6Pase) catalytic subunit, primarily expressed
in pancreatic islet β cells, which modulates the sensitivity of insulin secretion to glucose and …

Regulatory roles and mechanisms of alternative RNA splicing in adipogenesis and human metabolic health

Y Chao, Y Jiang, M Zhong, K Wei, C Hu, Y Qin, Y Zuo… - Cell & Bioscience, 2021 - Springer
Alternative splicing (AS) regulates gene expression patterns at the post-transcriptional level
and generates a striking expansion of coding capacities of genomes and cellular protein …

Nonsynonymous single-nucleotide polymorphisms in the G6PC2 gene affect protein expression, enzyme activity, and fasting blood glucose

EM Overway, KJ Bosma, DP Claxton, JK Oeser… - Journal of Biological …, 2022 - ASBMB
G6PC2 encodes a glucose-6-phosphatase (G6Pase) catalytic subunit that modulates the
sensitivity of insulin secretion to glucose and thereby regulates fasting blood glucose (FBG) …

Glucose-6-phosphatase catalytic subunit 2 negatively regulates glucose oxidation and insulin secretion in pancreatic β-cells

M Rahim, AY Nakhe, DR Banerjee, EM Overway… - Journal of Biological …, 2022 - ASBMB
Elevated fasting blood glucose (FBG) is associated with increased risks of developing type 2
diabetes (T2D) and cardiovascular-associated mortality. G6PC2 is predominantly expressed …