Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D1
Variant:p.R125W
Back to variants list

TBC1D1

NM_001396959.1:p.R125W

Associated Papers

TBC1D1 functions as a negative regulator of satellite cells for muscle regeneration.

Yang X et al.

Nature Communications, 2025

The Rab GTPase in the heart: Pivotal roles in development and disease.

Liu J et al.

Life Sciences, 2022

Illumination of the Endogenous Insulin-Regulated TBC1D4 Interactome in Human Skeletal Muscle.

Larsen JK et al.

Diabetes, 2022

Rab2A regulates the progression of nonalcoholic fatty liver disease downstream of AMPK-TBC1D1 axis by stabilizing PPARγ.

Chen ZY et al.

Plos Biology, 2022

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.

Tona R et al.

Human Molecular Genetics, 2019

AKT and AMP-activated protein kinase regulate TBC1D1 through phosphorylation and its interaction with the cytosolic tail of insulin-regulated aminopeptidase IRAP.

Mafakheri S et al.

The Journal of Biological Chemistry, 2018

Isoform-specific AMPK association with TBC1D1 is reduced by a mutation associated with severe obesity.

Thomas EC et al.

The Biochemical Journal, 2018

Tbc1d1 deletion suppresses obesity in leptin-deficient mice.

Dokas J et al.

International Journal of Obesity (2005), 2016

Analysis of Genes Involved in Body Weight Regulation by Targeted Re-Sequencing.

Volckmar AL et al.

Plos One, 2016

Deletion of the Rab GAP Tbc1d1 modifies glucose, lipid, and energy homeostasis in mice.

Hargett SR et al.

American Journal of Physiology. Endocrinology and Metabolism, 2015

GWAS-identified common variants for obesity are not associated with the risk of developing colorectal cancer.

Sainz J et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2014

Mitochondrial dysfunction and decrease in body weight of a transgenic knock-in mouse model for TDP-43.

Stribl C et al.

The Journal of Biological Chemistry, 2014

Genetic modifiers of cardiorespiratory fitness response to lifestyle intervention.

Peter I et al.

Medicine and Science in Sports and Exercise, 2014

Identification and Association of SNPs in TBC1D1 Gene with Growth Traits in Two Rabbit Breeds.

Yang ZJ et al.

Asian-australasian Journal of Animal Sciences, 2013

Conventional knockout of Tbc1d1 in mice impairs insulin- and AICAR-stimulated glucose uptake in skeletal muscle.

Dokas J et al.

Endocrinology, 2013

Insulin stimulation regulates AS160 and TBC1D1 phosphorylation sites in human skeletal muscle.

Middelbeek RJ et al.

Nutrition & Diabetes, 2013

Exploratory study on association of genetic variation in TBC1D1 with antipsychotic-induced weight gain.

Brandl EJ et al.

Human Psychopharmacology, 2013

The TBC1D1 gene: structure, function, and association with obesity and related traits.

Fontanesi L et al.

Vitamins and Hormones, 2013

Structural and population-based evaluations of TBC1D1 p.Arg125Trp.

Richardson TG et al.

Plos One, 2013

The Rab-GTPase-activating protein TBC1D1 regulates skeletal muscle glucose metabolism.

Szekeres F et al.

American Journal of Physiology. Endocrinology and Metabolism, 2012

Homozygous staggerer (sg/sg) mice display improved insulin sensitivity and enhanced glucose uptake in skeletal muscle.

Lau P et al.

Diabetologia, 2011

The porcine TBC1D1 gene: mapping, SNP identification, and association study with meat, carcass and production traits in Italian heavy pigs.

Fontanesi L et al.

Molecular Biology Reports, 2011

TBC1D1 regulates insulin- and contraction-induced glucose transport in mouse skeletal muscle.

An D et al.

Diabetes, 2010

Tbc1d1 mutation in lean mouse strain confers leanness and protects from diet-induced obesity.

Chadt A et al.

Nature Genetics, 2008

R125W coding variant in TBC1D1 confers risk for familial obesity and contributes to linkage on chromosome 4p14 in the French population.

Meyre D et al.

Human Molecular Genetics, 2008

Substrate specificity and effect on GLUT4 translocation of the Rab GTPase-activating protein Tbc1d1.

Roach WG et al.

The Biochemical Journal, 2007

TBC1D1 is a candidate for a severe obesity gene and evidence for a gene/gene interaction in obesity predisposition.

Stone S et al.

Human Molecular Genetics, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."