Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS8
Variant:p.R138H
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NDUFS8

NM_002496.4:p.R138H

Associated Papers

Analysis of compound heterozygous and homozygous mutations found in peripheral subunits of human respiratory Complex I, NDUFS1, NDUFS2, NDUFS8 and NDUFV1, by modeling in the E. coli enzyme.

Alkhaldi HA et al.

Mitochondrion, 2023

Emerging Roles of NDUFS8 Located in Mitochondrial Complex I in Different Diseases.

Wang S et al.

Molecules (basel, Switzerland), 2022

Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.

Mukherjee S et al.

Mitochondrion, 2020

Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.

Barshad G et al.

Scientific Reports, 2019

Mitochondrial Proteins Containing Coiled-Coil-Helix-Coiled-Coil-Helix (CHCH) Domains in Health and Disease.

Modjtahedi N et al.

Trends in Biochemical Sciences, 2016

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome.

Marina AD et al.

Jimd Reports, 2013

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

Tuppen HA et al.

Brain : a Journal of Neurology, 2010

Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.

Procaccio V et al.

Neurology, 2004

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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."