Associated Papers
The genotype/phenotype conundrum of inherited mitochondrial disorders: Insights from a survey of mtDNA mutations associated with Leigh syndrome in complex I.
Ahmadi ZA et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
Mitochondrial DNA Pathogenic Variants in Ophthalmic Diseases: A Review.
Abu-Amero KK et al.
Genes, 2025
Mitochondrial genome variability and metabolic alterations reveal new biomarkers of resistance in testicular germ cell tumors.
Kabelikova P et al.
Cancer Drug Resistance (alhambra, Calif.), 2024
Quinone Catalysis Modulates Proton Transfer Reactions in the Membrane Domain of Respiratory Complex I.
Kim H et al.
Journal of the American Chemical Society, 2023
37490414 (PubMed )
Supplement: ja3c03086_si_001.pdf
Analysis of Human Clinical Mutations of Mitochondrial ND1 in a Bacterial Model System for Complex I.
Alkhaldi HA et al.
Life (basel, Switzerland), 2022
Leber's hereditary optic neuropathy plus dystonia caused by the mitochondrial ND1 gene m.4160 T > C mutation.
Ren H et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
A broad comparative genomics approach to understanding the pathogenicity of Complex I mutations.
Klink GV et al.
Scientific Reports, 2021
Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.
Barshad G et al.
Scientific Reports, 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
29179728 (PubMed )
Supplement: 13046_2017_638_MOESM2_ESM.xlsx › Info_of_all_sub
New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy.
Martínez-Romero Í et al.
Clinical & Experimental Ophthalmology, 2014
Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.
Malfatti E et al.
Brain : a Journal of Neurology, 2007
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