Affinage

MT-ND1

NADH-ubiquinone oxidoreductase chain 1 · UniProt P03886

Length
318 aa
Mass
35.7 kDa
Annotated
2026-04-28
100 papers in source corpus 17 papers cited in narrative 17 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

MT-ND1 encodes a core hydrophobic subunit of mitochondrial Complex I (NADH:ubiquinone oxidoreductase) that is essential for ubiquinone-dependent electron transfer, Complex I assembly, respiratory supercomplex stability, and proton translocation. The subunit contains a critical matrix-side loop (Asp199–Lys262 region) that forms part of the ubiquinone/inhibitor binding site at the interface between the hydrophilic and hydrophobic domains, functionally coupled to the PSST subunit, and undergoes structural rearrangements during the active-to-deactive conformational transition (PMID:21721533, PMID:11418099, PMID:24560811). ND1 is incorporated at an early convergence point during Complex I biogenesis; its absence abolishes mature Complex I formation, eliminates Complex I-linked respiration, and secondarily destabilizes Complex IV through loss of supercomplexes (PMID:22019594, PMID:26929434). Pathogenic MT-ND1 mutations—including those causing Leber hereditary optic neuropathy (LHON) and MELAS—reduce Complex I activity and protein stability, increase mitochondrial ROS, impair ATP synthesis, and activate apoptotic and mitophagic pathways (PMID:1928099, PMID:30597069, PMID:34311469).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 1991 High

    The first mechanistic question was whether ND1 participates in the rotenone-sensitive, ubiquinone-dependent electron transfer step rather than the proximal NADH dehydrogenase activity; enzymatic assays on LHON patient mitochondria carrying the A52T mutation established that ND1 is specifically required for the quinone reduction step of Complex I.

    Evidence Biochemical assays of NADH-ubiquinone oxidoreductase and NADH dehydrogenase activities in mitochondria from LHON patient platelets/leukocytes across multiple pedigrees

    PMID:1928099 PMID:1959619

    Open questions at the time
    • Precise binding site of ubiquinone on ND1 not identified
    • Structural basis for rotenone sensitivity not resolved
  2. 1997 High

    Building on the activity defect, it was unclear whether ND1 mutations also alter inhibitor pharmacology; rotenone resistance in 3460/ND1 homoplasmic mitochondria demonstrated that ND1 contributes directly to the inhibitor binding pocket of Complex I.

    Evidence Rotenone and rolliniastatin-2 sensitivity measurements in platelet mitochondrial particles with mtDNA heteroplasmy correlation

    PMID:9191778

    Open questions at the time
    • Physical binding site on ND1 not mapped
    • Mechanism of functional complementation in heteroplasmic individuals unclear
  3. 1998 High

    Whether ND1 directly participates in ubiquinone binding was tested by mutagenizing conserved residues in the bacterial ND1 homologue NQO8; altered ubiquinone reduction kinetics confirmed that ND1 residues form part of the quinone interaction site.

    Evidence Site-directed mutagenesis of NQO8 in Paracoccus denitrificans with kinetic characterization using multiple ubiquinone analogues

    PMID:11063586 PMID:9718301

    Open questions at the time
    • Exact residues contacting ubiquinone not pinpointed
    • Bacterial findings not yet confirmed in mammalian Complex I
  4. 2001 High

    The relationship between ND1 and other subunits at the quinone site was unknown; photoaffinity labeling revealed that ND1 and the PSST subunit are functionally coupled at the inhibitor/quinone binding pocket, with reciprocal labeling shifts induced by substrates and inhibitors.

    Evidence Photoaffinity labeling with [³H]TDP on bovine electron transport particles with pharmacological perturbation

    PMID:11418099

    Open questions at the time
    • Atomic-resolution interface between ND1 and PSST not resolved
    • Nature of the low-affinity ND1 site versus high-affinity PSST site not fully characterized
  5. 2006 High

    Whether pathogenic MELAS mutations in ND1 affect assembly versus catalysis was unclear; modeling E214K in bacterial systems showed the conserved matrix-side loop is essential for both Complex I activity and assembly, linking clinical mutations to structural disruption at the membrane–peripheral arm interface.

    Evidence Site-directed mutagenesis in E. coli and Paracoccus ND1 homologues with activity and assembly analysis

    PMID:16849371

    Open questions at the time
    • Precise assembly step affected not defined
    • Structural mechanism of loop function in assembly unknown
  6. 2008 High

    To confirm that ND1 protein itself—not a secondary consequence of the mtDNA mutation—causes the Complex I defect, allotopic expression of wild-type ND1 was used to rescue activity, ATP synthesis, and galactose growth in LHON fibroblasts.

    Evidence Allotopic expression of nuclear-encoded ND1 with mitochondrial targeting in LHON patient fibroblasts; multiple biochemical readouts

    PMID:18513491

    Open questions at the time
    • Efficiency of allotopic import and proper membrane insertion not fully characterized
    • Single complementation system
  7. 2009 High

    The role of ND1 in connecting the membrane and peripheral arms was systematically defined by mutagenizing 27 conserved charged residues in the E. coli homologue NuoH, revealing that cytoplasmic loop residues are essential for docking peripheral subunits (NuoB, NuoCD) and for proton pumping.

    Evidence Systematic site-directed mutagenesis of NuoH with BN-PAGE assembly analysis, membrane potential, and proton-pumping measurements

    PMID:19189973

    Open questions at the time
    • Structural basis for peripheral arm docking not resolved at atomic level
    • Proton-pumping mechanism through ND1 versus adjacent subunits not dissected
  8. 2011 High

    The physical binding site on ND1 for quinone-site ligands was identified: photoaffinity labeling mapped the inhibitor AzQ contact to the Asp199–Lys262 region (third matrix loop, TM5–TM6 connection), establishing this loop as the quinone access/binding chamber at the hydrophilic–hydrophobic domain interface.

    Evidence Photoaffinity labeling of purified bovine Complex I with [¹²⁵I]AzQ; peptide mapping of labeled ND1 fragments

    PMID:21721533

    Open questions at the time
    • Atomic contacts with native ubiquinone-10 not resolved
    • Dynamic behavior of the loop during catalysis unknown
  9. 2011 High

    Multiple parallel studies in 2011 defined ND1's role at the nexus of assembly and catalysis: (i) C8orf38 patient fibroblasts showed ND1 incorporation is a critical early convergence point in Complex I biogenesis; (ii) bacterial mutagenesis confirmed extramembrane loop residues participate in ubiquinone binding; and (iii) a frameshift mutation revealed that loss of Complex I through ND1 disruption alters metabolic signaling including HIF1α destabilization.

    Evidence Patient fibroblast complementation with BN-PAGE (C8orf38); E. coli NuoH mutagenesis with kinetics; cybrid xenograft model with metabolic and HIF1α readouts

    PMID:21852384 PMID:22019594 PMID:22079202

    Open questions at the time
    • Assembly intermediates containing ND1 not fully resolved compositionally
    • In vivo relevance of HIF1α-metabolic findings based on single xenograft study
  10. 2014 Medium

    Whether ND1 participates in the active/deactive conformational transition was unknown; differential chemical labeling of bovine Complex I demonstrated ND1 undergoes lysine-detectable structural rearrangements during the A/D transition, placing it at the conformational switch near the quinone chamber.

    Evidence Lysine-specific fluorescent DIGE-like labeling of A- and D-forms of bovine Complex I with 2D native electrophoresis

    PMID:24560811

    Open questions at the time
    • Specific residues undergoing rearrangement not identified
    • Functional consequence of ND1 rearrangement on catalytic cycle not tested
    • Single study without independent replication
  11. 2016 High

    Complete loss of ND1 protein was shown to abolish not only Complex I but also respiratory supercomplexes, with secondary destabilization of Complex IV, demonstrating that ND1 is required for higher-order respiratory chain organization.

    Evidence Homoplasmic MT-ND1 mutation cybrids; BN-PAGE; oxygen consumption; western blotting

    PMID:26929434

    Open questions at the time
    • Mechanism by which ND1 loss destabilizes Complex IV not defined
    • Whether supercomplex loss is direct or indirect not resolved
  12. 2019 High

    Structural interactions of ND1 with accessory subunits were defined: the Y30H mutation disrupts electrostatic contacts between ND1-Y30 and NDUFA1 (E4/M1), reducing Complex I stability, activity, and membrane potential while increasing ROS.

    Evidence Cybrid cell models with molecular dynamics simulation and structural analysis validated by BN-PAGE, extracellular flux analysis, and ROS measurements

    PMID:30597069

    Open questions at the time
    • Whether other ND1–NDUFA1 contacts are similarly critical is untested
    • Contribution of NDUFA1 interaction to assembly versus catalysis not dissected
  13. 2021 High

    The downstream cellular consequences of ND1 dysfunction were comprehensively mapped: the 3460G>A mutation reduces ND1 stability and triggers a cascade of impaired assembly, increased ROS, cytochrome c release, caspase activation, and impaired PINK1/parkin mitophagy, linking ND1 to mitochondrial quality control pathways.

    Evidence Cybrid model with BN-PAGE, extracellular flux analysis, MitoSOX flow cytometry, immunofluorescence for apoptosis and mitophagy markers

    PMID:34311469

    Open questions at the time
    • Whether mitophagy impairment is a direct consequence of ND1 loss or secondary to bioenergetic collapse unclear
    • In vivo relevance in retinal ganglion cells not tested

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key open questions include the atomic-resolution dynamics of ubiquinone binding and release within the ND1 loop region during catalytic turnover, the precise mechanism by which ND1 coordinates proton translocation with electron transfer, and whether ND1 structural rearrangements in the A/D transition are cause or consequence of catalytic state changes.
  • No time-resolved structural data for ND1 during catalysis
  • Proton translocation pathway through or near ND1 not mapped at residue level
  • Relationship between ND1-dependent supercomplex formation and tissue-specific disease manifestation unexplored

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016491 oxidoreductase activity 6 GO:0005198 structural molecule activity 4
Localization
GO:0005739 mitochondrion 4
Pathway
R-HSA-1430728 Metabolism 6 R-HSA-1643685 Disease 4 R-HSA-5357801 Programmed Cell Death 1 R-HSA-9612973 Autophagy 1
Partners
C8ORF38MT-ND4NDUFA1NDUFS2NDUFS7PINK1
Complex memberships
Complex I (NADH:ubiquinone oxidoreductase)Respiratory supercomplex

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1991 The MT-ND1 A52T mutation (nucleotide 3460) causes a substantial and specific reduction in flux through Complex I (NADH-ubiquinone oxidoreductase) without affecting the proximal NADH dehydrogenase activity, establishing that ND1 is required for the rotenone- and ubiquinone-dependent electron transfer step of Complex I. Biochemical assay of mitochondrial electron transport in organelles isolated from platelet/white-blood-cell fractions; sequencing of all seven mitochondrial Complex I genes American journal of human genetics High 1928099
1991 The ND1/3460 mutation causes ~80% reduction in rotenone-sensitive and ubiquinone-dependent electron transfer activity of Complex I, while the proximal NADH dehydrogenase activity is unaffected, supporting the role of ND1 in rotenone and ubiquinone binding/interaction. In vitro electron transfer assays in mitochondria from LHON patient-derived cells FEBS letters High 1959619
1997 Both the 3460/ND1 and 11778/ND4 mutations induce resistance to rotenone inhibition of Complex I; the 3460/ND1 mutation additionally causes a marked decrease in specific Complex I activity in homoplasmic platelet mitochondria, with functional complementation observed in heteroplasmic individuals. Enzymatic activity assays and rotenone/rolliniastatin-2 inhibitor sensitivity measurements in mitochondrial particles from platelets, correlated with mtDNA analysis Neurology High 9191778
1998 Mutations in the bacterial ND1 homologue NQO8 (Paracoccus denitrificans) at residues corresponding to the LHON A52T site and neighboring conserved residues alter ubiquinone reduction kinetics, implicating the ND1 subunit in ubiquinone binding/reduction by Complex I. Site-directed mutagenesis of bacterial NQO8 (ND1 homologue); enzymatic activity assays with multiple ubiquinone analogues in bacterial NDH-1 Biochemistry High 9718301
2000 Mutagenesis of three conserved glutamate residues (E158, E212, E247) in the bacterial ND1 homologue NQO8 alters ubiquinone reductase activity and changes interactions with short-chain ubiquinones, but does not affect DCCD sensitivity, indicating these residues are near the ubiquinone reduction site but not the DCCD binding site. Site-directed mutagenesis of conserved Glu residues in bacterial NQO8; steady-state kinetics with multiple ubiquinone analogues Biochemistry High 11063586
2001 Photoaffinity labeling with [3H]TDP labels both the PSST and ND1 subunits of Complex I; PSST is labeled at a high-affinity inhibitory site while ND1 is labeled at a low-affinity site; functional coupling between PSST and ND1 is demonstrated by NADH, MPP+, and stigmatellin shifting labeling between the two subunits reciprocally. Photoaffinity labeling with trifluoromethyldiazirinyl-[3H]pyridaben in electron transport particles; pharmacological perturbation of labeling Biochimica et biophysica acta High 11418099
2006 MELAS mutations 3946 (E214K in ND1) and 3949 disrupt a conserved matrix-side loop of ND1; E214K virtually abolishes Complex I activity in bacterial models; the equivalent region is essential for Complex I assembly and activity, with effects on ubiquinone-related function. Site-directed mutagenesis in E. coli and Paracoccus denitrificans ND1 homologues; enzymatic activity assays and assembly analysis Human molecular genetics High 16849371
2008 Allotopic expression of ND1 (nuclear-encoded with mitochondrial targeting) restores Complex I activity, ATP synthesis, and galactose growth in fibroblasts from LHON patients with ND1 mutations, demonstrating that the ND1 protein is the direct cause of the Complex I defect. Allotopic expression of hybrid mRNAs targeting ND1 to mitochondrial surface; measurement of Complex I activity, ATP synthesis, and cell growth on galactose Biochimica et biophysica acta High 18513491
2009 Conserved charged residues in cytoplasmic side loops of NuoH (the E. coli ND1 homologue) are essential for assembly of peripheral subunits (especially NuoB and NuoCD) with the membrane arm of NDH-1, and loss of these residues abolishes membrane potential and proton-pumping. Site-directed mutagenesis of 27 conserved residues in NuoH; Blue Native gel electrophoresis; measurement of NADH:K3Fe(CN)6 reductase activity, membrane potential, and proton pumping The Journal of biological chemistry High 19189973
2011 Photoaffinity labeling with [125I]AzQ (a quinazoline inhibitor) on isolated bovine Complex I identifies the ND1 subunit labeling site between Asp199 and Lys262, in the third matrix loop connecting the fifth and sixth transmembrane helices, establishing this region as part of the interface between the hydrophilic and hydrophobic domains and near the ubiquinone binding/reduction site. Photoaffinity labeling of isolated bovine Complex I with [125I]AzQ; peptide mapping of labeled ND1 fragments Biochemistry High 21721533
2011 Mutations in C8orf38 block Complex I assembly by preventing production/stabilization of the mtDNA-encoded ND1 subunit; in the absence of ND1, early- and mid-stage assembly intermediates form but late-stage intermediates are impaired, defining ND1 incorporation as a critical early convergence point in Complex I biogenesis. Analysis of patient fibroblasts with C8orf38 mutation; complementation with wild-type C8orf38; Blue Native gel electrophoresis of assembly intermediates; western blotting of ND1 and complex subunits Journal of molecular biology High 22019594
2011 The LHON/MELAS overlap mutation m.3376G>A (E24K in ND1) modeled as NuoH-E36K in E. coli almost totally abolishes Complex I activity, while the more conservative E36Q mutation increases apparent Km for ubiquinone and diminishes inhibitor sensitivity, implicating this extramembrane loop residue in ubiquinone binding. Site-directed mutagenesis in E. coli NuoH (ND1 homologue); enzymatic activity assays with ubiquinone substrates and inhibitors Biochimica et biophysica acta High 22079202
2011 The MTND1 m.3571insC frameshift mutation disrupts Complex I assembly and destabilizes HIF1α; above a mutation threshold, tumor cells lacking Complex I show imbalanced α-ketoglutarate/succinate ratio and reduced HIF1α stabilization even in hypoxia, defining an antitumorigenic role of ND1 loss via metabolic reprogramming. Xenograft tumor experiments with cells carrying different mutation loads; measurement of energetic competence, apoptosis, α-KG/SA ratio, HIF1α stabilization Cancer research Medium 21852384
2014 During the active-to-deactive (A/D) conformational transition of bovine Complex I, ND1 (MT-ND1) undergoes structural rearrangements detectable by lysine-specific fluorescent labeling, indicating ND1 is part of the structural rearrangement at the junction of hydrophilic and hydrophobic domains near the quinone binding chamber. Lysine-specific fluorescent DIGE-like labeling of A- and D-forms of Complex I; two-dimensional native electrophoresis; chemical modification of cysteines Biochimica et biophysica acta Medium 24560811
2016 Loss of MT-ND1 protein (due to a homoplasmic MT-ND1 mutation preventing translation) disrupts Complex I biogenesis at early stages, resulting in no detectable mature Complex I, severely reduced Complex I-linked respiration (2% of control), and secondary reduction in Complex IV steady-state levels due to impaired respiratory supercomplex formation. 143B cybrid cell model with homoplasmic MT-ND1 mutation; Blue Native gel electrophoresis; oxygen consumption measurement; western blotting FASEB journal High 26929434
2019 The MT-ND1 m.3394T>C (Y30H) mutation disrupts electrostatic interactions between Y30 of ND1 and NDUFA1 (sidechain E4 and backbone carbonyl M1), altering Complex I structure, reducing its stability and activity, and decreasing mitochondrial ATP and membrane potential while increasing ROS. Cybrid cell models; Blue Native gel electrophoresis; oxygen consumption with extracellular flux analyzer; molecular dynamics and structural analysis; biochemical assays of ATP, membrane potential, and ROS Human molecular genetics High 30597069
2021 The MT-ND1 m.3460G>A mutation reduces MT-ND1 protein stability, causing defects in Complex I assembly and activity, respiratory deficiency, reduced ATP production, decreased mitochondrial membrane potential, increased mitochondrial ROS, activation of apoptosis (elevated cytochrome c release, BAK, BAX, caspases), and impaired PINK1/parkin-dependent mitophagy. Cybrid cell model; Blue Native gel electrophoresis; extracellular flux analysis; flow cytometry for ROS (MitoSOX); immunofluorescence for apoptosis and mitophagy markers; western blotting Investigative ophthalmology & visual science High 34311469

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1991 Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. American journal of human genetics 367 1928099
2007 The pentatricopeptide repeat gene OTP43 is required for trans-splicing of the mitochondrial nad1 Intron 1 in Arabidopsis thaliana. The Plant cell 223 17965268
1998 Relative merits of nuclear ribosomal internal transcribed spacers and mitochondrial CO1 and ND1 genes for distinguishing among Echinostoma species (Trematoda). Parasitology 159 9550222
1991 Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON). FEBS letters 158 1959619
2008 The plant defensin, NaD1, enters the cytoplasm of Fusarium oxysporum hyphae. The Journal of biological chemistry 156 18339623
1991 Trans splicing in Oenothera mitochondria: nad1 mRNAs are edited in exon and trans-splicing group II intron sequences. Cell 148 1850322
2010 Permeabilization of fungal hyphae by the plant defensin NaD1 occurs through a cell wall-dependent process. The Journal of biological chemistry 137 20861017
1997 Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype. Neurology 106 9191778
2013 Identification and mechanism of action of the plant defensin NaD1 as a new member of the antifungal drug arsenal against Candida albicans. Antimicrobial agents and chemotherapy 102 23689717
2003 The three-dimensional solution structure of NaD1, a new floral defensin from Nicotiana alata and its application to a homology model of the crop defense protein alfAFP. Journal of molecular biology 100 12473460
2012 nMAT1, a nuclear-encoded maturase involved in the trans-splicing of nad1 intron 1, is essential for mitochondrial complex I assembly and function. The Plant journal : for cell and molecular biology 98 22429648
2008 The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes. Biochimica et biophysica acta 98 18513491
2008 A phylogeny of members of the family Taeniidae based on the mitochondrial cox1 and nad1 gene data. Parasitology 96 18937885
2004 The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. Annals of neurology 96 15505787
2011 A mutation threshold distinguishes the antitumorigenic effects of the mitochondrial gene MTND1, an oncojanus function. Cancer research 89 21852384
2001 Functional coupling of PSST and ND1 subunits in NADH:ubiquinone oxidoreductase established by photoaffinity labeling. Biochimica et biophysica acta 88 11418099
2010 Sequence analysis of cox1 and nad1 genes in Echinococcus granulosus G3 genotype in camels (Camelus dromedarius) from central Iran. Parasitology research 80 20922418
2016 Mitochondrial Function and Maize Kernel Development Requires Dek2, a Pentatricopeptide Repeat Protein Involved in nad1 mRNA Splicing. Genetics 76 27815362
1974 Conditional lethal mutants of adenovirus 2-simian virus 40 hybrids. I. Host range mutants of Ad2+ND1. Journal of virology 74 4364898
2004 Distribution of introns in the mitochondrial gene nad1 in land plants: phylogenetic and molecular evolutionary implications. Molecular phylogenetics and evolution 72 15186811
2005 LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. European journal of human genetics : EJHG 71 15657614
2014 nMAT4, a maturase factor required for nad1 pre-mRNA processing and maturation, is essential for holocomplex I biogenesis in Arabidopsis mitochondria. The Plant journal : for cell and molecular biology 70 24506473
1998 Mitochondrial ND1 gene sequences used to identify echinostome isolates from Australia and New Zealand. International journal for parasitology 69 9559367
1976 Conditional lethal mutants of adenovirus type 2-simian virus 40 hybrids. II. Ad2+ND1 host-range mutants that synthesize fragments of the Ad2+ND1 30K protein. Journal of virology 64 183014
2014 Field resistance to Fusarium oxysporum and Verticillium dahliae in transgenic cotton expressing the plant defensin NaD1. Journal of experimental botany 62 24502957
2012 Dimerization of plant defensin NaD1 enhances its antifungal activity. The Journal of biological chemistry 62 22511788
1990 A sequence encoding a maturase-related protein in a group II intron of a plant mitochondrial nad1 gene. Proceedings of the National Academy of Sciences of the United States of America 62 2300546
2019 Rice FLOURY ENDOSPERM10 encodes a pentatricopeptide repeat protein that is essential for the trans-splicing of mitochondrial nad1 intron 1 and endosperm development. The New phytologist 59 30916395
2017 EMPTY PERICARP11 serves as a factor for splicing of mitochondrial nad1 intron and is required to ensure proper seed development in maize. Journal of experimental botany 56 28981788
2009 Critical roles of subunit NuoH (ND1) in the assembly of peripheral subunits with the membrane domain of Escherichia coli NDH-1. The Journal of biological chemistry 56 19189973
2011 Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. Journal of molecular biology 54 22019594
1998 Analysis of the pathogenic human mitochondrial mutation ND1/3460, and mutations of strictly conserved residues in its vicinity, using the bacterium Paracoccus denitrificans. Biochemistry 54 9718301
2016 Loss of mitochondrial DNA-encoded protein ND1 results in disruption of complex I biogenesis during early stages of assembly. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 50 26929434
1992 Establishment and characterization of a human primary prostatic adenocarcinoma cell line (ND-1). The Journal of urology 50 1279221
2009 Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation. Biochemical and biophysical research communications 48 19324017
1981 Chinese hamster x American mink somatic cell hybrids: characterization of a clone panel and assignment of the mink genes for malate dehydrogenase, NADP-1 and malate dehydrogenase, NAD-1. TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik 47 24276632
2002 Identification of Nd1, a novel murine kelch family protein, involved in stabilization of actin filaments. The Journal of biological chemistry 45 12213805
2016 The plant defensin NaD1 introduces membrane disorder through a specific interaction with the lipid, phosphatidylinositol 4,5 bisphosphate. Biochimica et biophysica acta 43 26896695
1991 Multiple trans-splicing events are required to produce a mature nad1 transcript in a plant mitochondrion. Genes & development 43 1869047
1978 Tumor-specific transplantation antigen: use of the Ad2+ND1 hybrid virus to identify the protein responsible for simian virus 40 tumor rejection and its genetic origin. Proceedings of the National Academy of Sciences of the United States of America 43 80009
2011 Exploring interactions between the 49 kDa and ND1 subunits in mitochondrial NADH-ubiquinone oxidoreductase (complex I) by photoaffinity labeling. Biochemistry 42 21721533
1992 Sequence evolution in mitochondrial ribosomal and ND-1 genes in lepidoptera: implications for phylogenetic analyses. Molecular biology and evolution 42 1435234
2014 ND3, ND1 and 39kDa subunits are more exposed in the de-active form of bovine mitochondrial complex I. Biochimica et biophysica acta 41 24560811
2007 A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. Archives of neurology 41 17562939
2000 Mutagenesis of three conserved Glu residues in a bacterial homologue of the ND1 subunit of complex I affects ubiquinone reduction kinetics but not inhibition by dicyclohexylcarbodiimide. Biochemistry 41 11063586
2019 Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy. Human molecular genetics 39 30597069
2017 The pentatricopeptide repeat protein MTSF2 stabilizes a nad1 precursor transcript and defines the 3΄ end of its 5΄-half intron. Nucleic acids research 39 28334831
1996 Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation. The British journal of ophthalmology 39 8976705
1979 Cell surface location of simian virus 40-specific proteins on HeLa cells infected with adenovirus type 2-simian virus 40 hybrid viruses Ad2+ND1 and Ad2+ND2. Journal of virology 38 90174
2021 Assocation Between Leber's Hereditary Optic Neuropathy and MT-ND1 3460G>A Mutation-Induced Alterations in Mitochondrial Function, Apoptosis, and Mitophagy. Investigative ophthalmology & visual science 37 34311469
2012 Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families. Investigative ophthalmology & visual science 37 22577081
2016 Expression of mitochondrial genes MT-ND1, MT-ND6, MT-CYB, MT-COI, MT-ATP6, and 12S/MT-RNR1 in colorectal adenopolyps. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 36 27333991
2010 Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation. Molecular genetics and metabolism 35 20728388
2010 Deregulation of the Sod1 and Nd1 genes in mouse fetal oocytes exposed to mono-(2-ethylhexyl) phthalate (MEHP). Reproductive toxicology (Elmsford, N.Y.) 34 20438828
2019 MiR-1a-3p mitigates isoproterenol-induced heart failure by enhancing the expression of mitochondrial ND1 and COX1. Experimental cell research 33 30853447
2014 Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families. Mitochondrion 33 25194554
2011 Analysis of mitochondrial ND1 gene in human colorectal cancer. Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences 33 21448383
2006 The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I. Human molecular genetics 33 16849371
2019 A chromosome-level sequence assembly reveals the structure of the Arabidopsis thaliana Nd-1 genome and its gene set. PloS one 32 31112551
1977 Identification of amber and ochre mutants of the human virus Ad2+ND1. Proceedings of the National Academy of Sciences of the United States of America 32 200921
2017 The plant defensin NaD1 induces tumor cell death via a non-apoptotic, membranolytic process. Cell death discovery 31 28179997
2008 Progressive encephalopathy and complex I deficiency associated with mutations in MTND1. Neuropediatrics 31 18504678
2011 Phylogenetic relationships of the marine Haplosclerida (Phylum Porifera) employing ribosomal (28S rRNA) and mitochondrial (cox1, nad1) gene sequence data. PloS one 30 21931685
2016 Distinct role of Arabidopsis mitochondrial P-type pentatricopeptide repeat protein-modulating editing protein, PPME, in nad1 RNA editing. RNA biology 29 27149614
2013 Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome. Human mutation 29 24105702
2007 The mitochondrial tRNA(Glu) A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber's hereditary optic neuropathy. Biochemical and biophysical research communications 29 17434142
2024 Mitochondrial complex I subunit MT-ND1 mutations affect disease progression. Heliyon 28 38596130
2020 The novel E-subgroup pentatricopeptide repeat protein DEK55 is responsible for RNA editing at multiple sites and for the splicing of nad1 and nad4 in maize. BMC plant biology 27 33297963
2017 Sequestration of PRMT1 and Nd1-L mRNA into ALS-linked FUS mutant R521C-positive aggregates contributes to neurite degeneration upon oxidative stress. Scientific reports 27 28094300
2014 Agp2p, the plasma membrane transregulator of polyamine uptake, regulates the antifungal activities of the plant defensin NaD1 and other cationic peptides. Antimicrobial agents and chemotherapy 27 24566173
1999 In the Nicotiana sylvestris CMSII mutant, a recombination-mediated change 5' to the first exon of the mitochondrial nad1 gene is associated with lack of the NADH:ubiquinone oxidoreductase (complex I) NAD1 subunit. European journal of biochemistry 27 10215845
2014 Effects of recombinant flagellin B and its ND1 domain from Vibrio anguillarum on macrophages from gilthead seabream (Sparus aurata L.) and rainbow trout (Oncorhynchus mykiss, W.). Fish & shellfish immunology 25 25449380
2012 Identification of the Kelch family protein Nd1-L as a novel molecular interactor of KRIT1. PloS one 25 22970292
2019 A Mitochondrial Transcription Termination Factor, ZmSmk3, Is Required for nad1 Intron4 and nad4 Intron1 Splicing and Kernel Development in Maize. G3 (Bethesda, Md.) 23 31196888
2010 Mutations in mitochondrial NADH dehydrogenase subunit 1 (mtND1) gene in colorectal carcinoma. The Malaysian journal of pathology 23 21329181
2008 The mitochondrial ND1 T3308C mutation in a Chinese family with the secondary hypertension. Biochemical and biophysical research communications 23 18194667
1976 Simian virus 40-specific polypeptides in AD2+ ND1- and Ad2+ ND4-infected cells. Journal of virology 23 178903
2021 Quantitative detection of circulating MT-ND1 as a potential biomarker for colorectal cancer. Bosnian journal of basic medical sciences 22 33823124
2015 Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression. Clinical science (London, England : 1979) 22 25626417
2008 A novel G3337A mitochondrial ND1 mutation related to cardiomyopathy co-segregates with tRNALeu(CUN) A12308G and tRNAThr C15946T mutations. Mitochondrion 22 18502698
2010 Monophyly of Opisthorchis viverrini populations in the lower Mekong Basin, using mitochondrial DNA nad1 gene as the marker. Parasitology international 21 20197110
2004 Protective role of Nd1 in doxorubicin-induced cardiotoxicity. Cardiovascular research 21 15485691
2000 Mitochondrial ND1 sequence analysis and association of the T4216C mutation with Parkinson's disease. Neurotoxicology 21 11022854
2000 Multiple lineages of the mitochondrial gene NADH dehydrogenase subunit 1 (ND1) in parasitic helminths: implications for molecular evolutionary studies of facultatively anaerobic eukaryotes. Journal of molecular evolution 20 11040285
2021 Impact of Mitochondrial Genetic Variants in ND1, ND2, ND5, and ND6 Genes on Sperm Motility and Intracytoplasmic Sperm Injection (ICSI) Outcomes. Reproductive sciences (Thousand Oaks, Calif.) 19 33475980
2016 Loss of a Trans-Splicing nad1 Intron from Geraniaceae and Transfer of the Maturase Gene matR to the Nucleus in Pelargonium. Genome biology and evolution 19 27664178
2014 Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families. Journal of human genetics 19 24430572
2014 Sequence variation in mitochondrial cox1 and nad1 genes of ascaridoid nematodes in cats and dogs from Iran. Journal of helminthology 19 24717402
2021 Leber's Hereditary Optic Neuropathy Arising From the Synergy Between ND1 3635G>A Mutation and Mitochondrial YARS2 Mutations. Investigative ophthalmology & visual science 18 34156427
2021 The pentatricopeptide repeat protein EMP603 is required for the splicing of mitochondrial Nad1 intron 2 and seed development in maize. Journal of experimental botany 18 34279607
1993 The nad6 gene and the exon d of nad1 are co-transcribed in wheat mitochondria. Current genetics 18 7507801
2020 Diagnostic value of circulating cell-free mtDNA in patients with suspected thyroid cancer: ND4/ND1 ratio as a new potential plasma marker. Mitochondrion 17 33035689
2020 Mitochondrial ND1 T4216C and ND2 C5178A mutations are associated with maternally transmitted diabetes mellitus. Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis 17 33284036
2017 Genetic diversities of MT-ND1 and MT-ND2 genes are associated with high-altitude adaptation in yak. Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis 17 28366030
2017 Genetic characterization of Echinococcus granulosus strains isolated from humans based on nad1 and cox1 gene analysis in Isfahan, central Iran. Journal of helminthology 17 29103387
1997 The main features of the craniate mitochondrial DNA between the ND1 and the COI genes were established in the common ancestor with the lancelet. Molecular biology and evolution 17 9254918
2017 Factors influencing codon usage of mitochondrial ND1 gene in pisces, aves and mammals. Mitochondrion 16 28668667
2013 A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms. Mitochondrion 16 24063851
2011 Transition m.3308T>C in the ND1 gene is associated with left ventricular hypertrabeculation/noncompaction. Cardiology 16 21625124
2011 LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1. Biochimica et biophysica acta 16 22079202