Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB10
Variant:p.C107S
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NDUFB10

NM_004548.3:p.C107S

Associated Papers

Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment.

Balderas E et al.

Nature Communications, 2022

An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.

Marra F et al.

Biomolecules, 2021

Analysis of Human Mutations in the Supernumerary Subunits of Complex I.

Dang QL et al.

Life (basel, Switzerland), 2020

Chlamydomonas reinhardtii as a plant model system to study mitochondrial complex I dysfunction.

Subrahmanian N et al.

Plant Direct, 2020

Vectorial Import via a Metastable Disulfide-Linked Complex Allows for a Quality Control Step and Import by the Mitochondrial Disulfide Relay.

Habich M et al.

Cell Reports, 2019

Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.

Friederich MW et al.

Human Molecular Genetics, 2017

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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."