Varaico: Literature-Extracted Genetic Variants

Gene:MPC1
Variant:p.R97W
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MPC1

NM_016098.4:p.R97W

Associated Papers

Structure of human mitochondrial pyruvate carrier MPC1 and MPC2 complex.

Sun Y et al.

Nature Communications, 2025

40691140 (PubMed )
Supplement: 41467_2025_61939_MOESM5_ESM.pdf

Computational studies on the functional and structural impact of pathogenic mutations in enzymes.

Dissanayake UC et al.

Protein Science : a Publication of the Protein Society, 2025

Fifty years of the mitochondrial pyruvate carrier: New insights into its structure, function, and inhibition.

Tavoulari S et al.

Acta Physiologica (oxford, England), 2023

MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.

Pujol C et al.

Brain : a Journal of Neurology, 2023

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.

Bölsterli BK et al.

Nutrients, 2022

Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.

Jiang H et al.

Journal of Inherited Metabolic Disease, 2022

Structural Insights into the Human Mitochondrial Pyruvate Carrier Complexes.

Xu L et al.

Journal of Chemical Information and Modeling, 2021

Sequence Features of Mitochondrial Transporter Protein Families.

Gyimesi G et al.

Biomolecules, 2020

Mitochondrial pyruvate and fatty acid flux modulate MICU1-dependent control of MCU activity.

Nemani N et al.

Science Signaling, 2020

Two human patient mitochondrial pyruvate carrier mutations reveal distinct molecular mechanisms of dysfunction.

Oonthonpan L et al.

Jci Insight, 2019

Establishment of mitochondrial pyruvate carrier 1 (MPC1) gene knockout mice with preliminary gene function analyses.

Li X et al.

Oncotarget, 2016

Glutamine oxidation maintains the TCA cycle and cell survival during impaired mitochondrial pyruvate transport.

Yang C et al.

Molecular Cell, 2014

Regulation of pyruvate metabolism and human disease.

Gray LR et al.

Cellular and Molecular Life Sciences : Cmls, 2014

A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans.

Bricker DK et al.

Science (new York, N.y.), 2012

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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."