Associated Papers
Mosaic variants of neurodevelopmental and mitochondrial genes in postmortem paraventricular thalamus in bipolar disorder detected by deep exome sequencing.
Nishioka M et al.
Psychiatry and Clinical Neurosciences, 2025
Mitochondrial DNA Pathogenic Variants in Ophthalmic Diseases: A Review.
Abu-Amero KK et al.
Genes, 2025
Mitochondrial complex I subunit MT-ND1 mutations affect disease progression.
Lin X et al.
Heliyon, 2024
Analysis of Human Clinical Mutations of Mitochondrial ND1 in a Bacterial Model System for Complex I.
Alkhaldi HA et al.
Life (basel, Switzerland), 2022
A broad comparative genomics approach to understanding the pathogenicity of Complex I mutations.
Klink GV et al.
Scientific Reports, 2021
Mitochondrial disease patients with novel ND4 12058A > C and ND1 m.3911A > G variations: implications for a role in the phenotype following a bioinformatic investigation.
Mkaouar-Rebai E et al.
Molecular Biology Reports, 2021
Analysis of Human Mutations in the Supernumerary Subunits of Complex I.
Dang QL et al.
Life (basel, Switzerland), 2020
Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.
Barshad G et al.
Scientific Reports, 2019
Mutations in a conserved loop in the PSST subunit of respiratory complex I affect ubiquinone binding and dynamics.
Galemou Yoga E et al.
Biochimica Et Biophysica Acta. Bioenergetics, 2019
Site-specific selection reveals selective constraints and functionality of tumor somatic mtDNA mutations.
Li D et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2017
Mitochondrial mutations drive prostate cancer aggression.
Hopkins JF et al.
Nature Communications, 2017
An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene.
Rodríguez-García ME et al.
Human Genetics, 2017
Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.
Varghese F et al.
Human Molecular Genetics, 2015
New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy.
Martínez-Romero Í et al.
Clinical & Experimental Ophthalmology, 2014
Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.
Delmiro A et al.
Human Mutation, 2013
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions.
Caporali L et al.
Biochimica Et Biophysica Acta, 2013
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo SE et al.
Nature Genetics, 2010
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells.
Gasparre G et al.
Human Mutation, 2009
The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.
Kervinen M et al.
Human Molecular Genetics, 2006
Mutations of the mitochondrial ND1 gene as a cause of MELAS.
Kirby DM et al.
Journal of Medical Genetics, 2004