Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS8
Variant:p.A159D
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NDUFS8

NM_002496.4:p.A159D

Associated Papers

Molecular Alterations in Core Subunits of Mitochondrial Complex I and Their Relation to Parkinson's Disease.

Epifane-de-Assunção MC et al.

Molecular Neurobiology, 2025

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

Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?

Moreira JD et al.

Genes, 2021

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

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

Haack TB et al.

Journal of Medical Genetics, 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."