Affinage

MT-ND1

NADH-ubiquinone oxidoreductase chain 1 · UniProt P03886

Length
318 aa
Mass
35.7 kDa
Annotated
2026-06-10
100 papers in source corpus 15 papers cited in narrative 15 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

MT-ND1 encodes the ND1 core subunit of mitochondrial respiratory complex I (CI, NADH:ubiquinone oxidoreductase), where it is indispensable both for the multi-step assembly of the holoenzyme and for the dynamic organization of CI-containing respiratory supercomplexes; allotopic re-expression in ND1-null cells showed that its absence stalls CI assembly and disrupts supramolecular respiratory organization, with a defined threshold of ND1 protein required for recovery (PMID:29518970). Pathogenic MT-ND1 variants partition mechanistically into two classes. One class destabilizes the ND1 protein, reducing its steady-state level and thereby impairing CI assembly and supercomplex formation, as shown for the LHON-associated m.3460G>A, m.3946G>A (p.E214K), and m.3395A>G (p.Y30C) variants (PMID:34311469, PMID:24105702, PMID:32011699). The second class leaves CI normally assembled but abolishes catalytic function, exemplified by m.3890G>A (p.R195Q), the 7-bp inversion/inv7 reconstituted in E. coli, and m.4135T>C (p.Y277His), which stabilizes CI in an inactive state and disturbs supercomplex stability (PMID:23246842, PMID:35234296, PMID:37274791); residues in the coenzyme Q-binding pocket (V208) and at the ND1–NDUFA1 subunit interface (S110) define structural determinants of this activity (PMID:39147111, PMID:24063851). Downstream of CI failure, ND1 mutations lower ATP production and membrane potential, raise mitochondrial ROS, trigger cytochrome c release with caspase/PARP-dependent apoptosis, and impair PINK1/Parkin-dependent mitophagy (PMID:34311469, PMID:39147111), while high mutant loads destabilize HIF1α via an altered α-ketoglutarate/succinate ratio, producing a threshold-dependent oncosuppressive effect (PMID:21852384). The biochemical defect is modifiable: the mitochondrial ribosomal protein gene MRPS18C suppresses CI deficiency and normalizes ROS when overexpressed (PMID:28526948), and assembly-factor upregulation can partially compensate for ND1 loss (PMID:25626417). Across these studies phenotypic severity scales with heteroplasmic mutation load through threshold effects (PMID:21852384, PMID:36717040).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 2006 Medium

    Established that an MT-ND1 mutation can cause CI deficiency without blocking holoenzyme assembly, raising the question of whether ND1 acts in assembly, catalysis, or both.

    Evidence Transmitochondrial cybrids with defined loads of a 7-bp intragenic inversion; CI activity and assembly analysis

    PMID:16492986

    Open questions at the time
    • Did not resolve which catalytic step is impaired
    • No structural mechanism for activity loss
  2. 2011 High

    Connected CI disassembly from ND1 loss to a metabolic-signaling output, showing high mutant loads destabilize HIF1α via the α-KG/succinate ratio and suppress tumor growth in a threshold-dependent manner.

    Evidence Xenograft model of cells with graded m.3571insC loads; α-KG/SA measurement; HIF1α and apoptosis assays

    PMID:21852384

    Open questions at the time
    • Threshold values are mutation/context specific
    • Mechanism linking metabolite ratio to HIF1α prolyl hydroxylation not directly dissected here
  3. 2012 High

    Dissociated catalytic function from assembly, showing a conserved-residue mutation cripples CI activity and ATP synthesis with a normally assembled enzyme.

    Evidence Cybrids carrying m.3890G>A (p.R195Q); CI activity, ATP synthesis, and BN-PAGE assembly assays

    PMID:23246842

    Open questions at the time
    • Structural basis of the catalytic lesion not defined
    • Effect on ubiquinone handling not measured
  4. 2013 Medium

    Defined a protein-stability class of mutations, showing m.3946G>A reduces ND1 protein (not transcript), impairs CI/supercomplex assembly, and elevates CI-derived ROS.

    Evidence Patient fibroblasts; RT-PCR, Western blot, BN-PAGE, ATP and ROS assays

    PMID:24105702

    Open questions at the time
    • Degradation pathway for unstable ND1 not identified
    • ROS source within CI not localized
  5. 2013 Low

    Localized a functional determinant to the coenzyme Q-binding pocket, with a pocket-residue mutation causing CI deficiency and reduced coenzyme Q response despite intact assembly.

    Evidence Patient characterization of m.3928G>A (p.V208L); CI activity with coenzyme Q titration; assembly analysis

    PMID:24063851

    Open questions at the time
    • Single clinical case without reconstitution or targeted mutagenesis
    • Direct Q-binding measurement not performed
  6. 2015 Medium

    Revealed a compensatory response to ND1 loss, with upregulation of CI assembly-factor transcripts and proteins that stabilize supercomplexes and partially rescue phenotype.

    Evidence Patient muscle with novel MTND1 mutations; BN-PAGE, Western blot, RT-PCR, heteroplasmy quantification

    PMID:25626417

    Open questions at the time
    • Specific assembly factors driving rescue not pinpointed
    • Tissue-restricted nature of the response unexplained
  7. 2016 Medium

    Confirmed pathogenicity of an additional LHON variant, linking reduced CI activity to lowered membrane potential and proliferation defects.

    Evidence Cybrids carrying m.3634A>G (p.S110G); CI activity, proliferation, membrane potential assays, in silico modeling

    PMID:27613247

    Open questions at the time
    • Mechanistic depth limited beyond activity readout
    • No structural validation of modeling
  8. 2017 Medium

    Identified a nuclear suppressor gene, showing MRPS18C overexpression rescues CI activity and normalizes ROS in ND1-mutant fibroblasts.

    Evidence cDNA-library complementation screen in patient fibroblasts; MRPS18C overexpression; CI activity and ROS assays

    PMID:28526948

    Open questions at the time
    • Molecular mechanism of suppression unresolved
    • Generality across other ND1 alleles untested
  9. 2018 High

    Established ND1 as a core subunit required for both CI biogenesis and supercomplex organization, with a minimum protein threshold for recovery.

    Evidence Allotopic re-expression of human ND1 in ND1-null cybrids; BN-PAGE and supercomplex analysis

    PMID:29518970

    Open questions at the time
    • Step in the assembly pathway where ND1 acts not pinpointed
    • Determinants of supercomplex stability not defined
  10. 2020 Medium

    Reinforced the degradation class, showing a mutation reduces ND1 quantity and CI activity without producing subcomplexes, with structural modeling rationalizing ND1 instability.

    Evidence Cybrids carrying m.3395A>G (p.Y30C); CI activity, Western blot, BN-PAGE, structural modeling

    PMID:32011699

    Open questions at the time
    • Degradation machinery not identified
    • Modeling based on bacterial ortholog structure
  11. 2022 Medium

    Provided clean reconstitution evidence that an ND1 mutation can abolish catalytic activity while preserving stable assembly.

    Evidence E. coli expression of the inv7 triple-substitution variant; growth, assembly quantification, NADH:ubiquinone oxidoreductase activity

    PMID:35234296

    Open questions at the time
    • Bacterial system may not fully recapitulate human CI/supercomplex context
    • Precise inactivated catalytic step not defined
  12. 2023 Medium

    Characterized a frameshift allele in graded isogenic clones, linking CI loss to respiration, ATP, lactate, membrane potential, ROS, and growth defects in a dose-dependent way.

    Evidence Patient fibroblast clones of variable m.3571_3572insC load; BN-PAGE, Seahorse, lactate, membrane potential, ROS, growth assays

    PMID:36717040

    Open questions at the time
    • Heteroplasmy threshold value not generalized
    • Single lab, no in vivo confirmation
  13. 2023 Medium

    Showed an ND1 residue critical for activity and supercomplex stability rather than assembly, with the mutant CI stabilized in an inactive form.

    Evidence Patient muscle and fibroblasts with m.4135T>C (p.Y277His); CI activity, BN-PAGE supercomplex and assembly analysis

    PMID:37274791

    Open questions at the time
    • Mechanism of inactive-state stabilization not structurally resolved
    • Single case
  14. 2024 Medium

    Mapped a pathogenic mutation to the ND1–NDUFA1 interface, linking interface disruption to CI deficiency, apoptosis, and impaired mitophagy.

    Evidence Cybrids carrying m.3635G>A (p.S110N); structural analysis of ND1/NDUFA1; CI activity, respiration, membrane potential, cytochrome c, caspase/PARP and LC3/P62 readouts

    PMID:39147111

    Open questions at the time
    • Direct binding measurement of the interface not performed
    • Mitophagy impairment mechanism downstream of CI not fully traced

Open questions

Synthesis pass · forward-looking unresolved questions
  • How ND1 instability is sensed and routed to degradation, and how specific ND1 lesions are mechanistically channeled into apoptosis versus mitophagy versus HIF1α signaling, remains unresolved.
  • No identified protease/quality-control pathway for unstable ND1
  • Determinants selecting apoptosis vs mitophagy outcomes undefined
  • Generalizability of MRPS18C suppression across alleles untested

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0016491 oxidoreductase activity 3 GO:0140098 catalytic activity, acting on RNA 2
Localization
GO:0005739 mitochondrion 3
Pathway
R-HSA-1430728 Metabolism 3 R-HSA-5357801 Programmed Cell Death 2 R-HSA-9612973 Autophagy 2
Partners
MRPS18CNDUFA1
Complex memberships
Mitochondrial respiratory complex IRespiratory chain supercomplexes (I/III2/IV, I/III2)

Evidence

Reading pass · 15 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2018 ND1 (MT-ND1) is a pivotal core subunit required for both complex I (CI) biogenesis and the dynamic organization of respiratory supercomplexes. Using allotopic re-expression of human ND1 in cells lacking the endogenous protein (due to the m.3571insC truncative mutation), the absence of ND1 was shown to stall the multi-step CI assembly process and alter supramolecular organization of respiratory complexes. A mutation threshold was defined below which CI and supercomplex organization is recovered, establishing that a minimum amount of ND1 protein is required. Allotopic re-expression of MT-ND1 in ND1-null cybrid cells; Blue Native PAGE for CI assembly; respiratory supercomplex analysis International journal of molecular sciences High 29518970
2011 High mutant loads of the MTND1 m.3571insC frameshift mutation, causing CI disassembly, destabilize HIF1α through an imbalance of α-ketoglutarate/succinate (α-KG/SA) ratio, even in a genuinely hypoxic environment. A threshold level of mutation was defined above which tumor growth and invasiveness are significantly reduced, establishing a threshold-dependent oncosuppressive mechanism for MTND1 mutations. Tumor xenograft model with cells harboring different mutation loads; measurement of α-KG/SA ratio; HIF1α stabilization assays; energetic competence and apoptosis assays Cancer research High 21852384
2021 The LHON-associated MT-ND1 m.3460G>A mutation reduces MT-ND1 protein levels (protein instability), leading to defects in CI assembly and activity, respiratory deficiency, diminished mitochondrial ATP production, decreased membrane potential, increased mitochondrial ROS, elevated cytochrome c release and activation of apoptotic proteins (BAK, BAX, PARP, caspases 3/7/9), and impaired PINK1/Parkin-dependent mitophagy. Cybrid cell model (ρ0 cells fused with patient enucleated cells); Blue Native PAGE; extracellular flux analyzer (oxygen consumption); flow cytometry (MitoSOX ROS); immunofluorescence (apoptosis, mitophagy markers) Investigative ophthalmology & visual science High 34311469
2012 The m.3890G>A/MT-ND1 (p.R195Q) mutation, affecting a conserved ND1 residue, causes a marked reduction of CI activity and CI-dependent ATP synthesis in cybrid cells despite normally assembled CI enzyme, establishing that this mutation impairs CI catalytic function without disrupting overall CI assembly. Cybrid cell system (mutant mtDNA transfer); CI activity assay; CI-dependent ATP synthesis measurement; CI assembly assessed by Blue Native PAGE Biochimica et biophysica acta High 23246842
2015 Novel MTND1 mutations (m.3365T>C p.Leu20Pro; m.4175G>A p.Trp290*) cause severe muscle-restricted CI deficiency. Despite markedly reduced CI assembly and undetectable ND1 signal by Western blot, residual CI assembly was viable. A compensatory mechanism was identified: upregulation of CI assembly factor transcripts and proteins (shown by RT-PCR and Western blot) that stabilize respiratory chain supercomplexes, partially rescuing the clinical phenotype. Mitochondrial genome sequencing; CI assembly analysis (Blue Native PAGE); Western blot; real-time PCR for assembly factor expression; heteroplasmy quantification in skeletal muscle Clinical science Medium 25626417
2013 The MT-ND1 m.3946G>A (p.E214K) mutation reduces MT-ND1 protein levels (protein stability affected, not transcription), impairs CI assembly and supercomplex (I/III2/IV and I/III2) formation, causes CI deficiency, and significantly increases ROS produced by CI, without affecting ATP steady-state levels under stress conditions. Whole-exome sequencing for variant identification; RT-PCR (gene expression); Western blot (protein level); Blue Native PAGE (CI assembly and supercomplexes); ATP measurement; ROS assay in patient fibroblasts Human mutation Medium 24105702
2020 The m.3395A>G mutation in MT-ND1 (p.Y30C) decreases both the activity and quantity of CI due to reduced MT-ND1 protein levels, but does not produce CI subcomplexes, indicating that CI assembly quality is not affected. Structural modeling based on the MT-ND1 crystal structure suggested a mechanism of MT-ND1 degradation caused by this mutation. Cybrid cell lines; CI enzyme activity assay; Western blot (MT-ND1 protein quantity); Blue Native PAGE (CI assembly, subcomplex detection); structural modeling using crystal structure of bacterial ortholog Human molecular genetics Medium 32011699
2022 A 7-bp inversion in MT-ND1 (m.3902-3908inv7), producing a triple amino acid substitution, results in a variant complex I that is stably assembled in normal amounts but has no enzymatic activity, as demonstrated using E. coli as a model system. This establishes that the mutation specifically abolishes CI catalytic activity without affecting assembly. E. coli model system expressing the triple mutant; growth assay; CI assembly quantification; enzymatic activity assay (NADH:ubiquinone oxidoreductase activity) FEBS letters Medium 35234296
2023 The MT-ND1 m.3571_3572insC frameshift variant causes CI deficiency and impairs mitochondrial respiration. Cell clones with different mutation loads showed that m.3571_3572insC causes loss of CI by BN-PAGE, impairs oxygen consumption rate and ATP production, increases lactate, decreases mitochondrial membrane potential, increases mitochondrial ROS, and reduces cell growth capacity. Patient-derived fibroblast clones with variable mutation loads; Blue Native PAGE (CI assembly); Seahorse extracellular flux analyzer (OCR, ATP); lactate assay; mitochondrial membrane potential; ROS; competitive cell growth assay Gene Medium 36717040
2017 Overexpression of the nuclear gene MRPS18C (encoding mitochondrial ribosomal protein bS18m) suppresses the biochemical defects caused by the MT-ND1 m.3946G>A (p.E214K) mutation, recovering CI activity and reducing ROS to normal levels in patient fibroblasts. This identifies MRPS18C as a positive modifier/suppressor gene for MT-ND1 mutation-induced CI deficiency. Functional complementation screen (cDNA library transfection into patient fibroblasts with metabolic selection); MRPS18C overexpression; CI activity assay; ROS measurement Human genetics Medium 28526948
2016 The MT-ND1 m.3634A>G (p.Ser110Gly) mutation decreases Complex I enzyme activity, reduces cell proliferation, and decreases mitochondrial membrane potential in cybrid cells, supporting its pathogenic role in LHON. Cybrid cell model; CI enzyme activity assay; cell proliferation assay; mitochondrial membrane potential measurement; in silico structural modeling Biochimica et biophysica acta. Molecular basis of disease Medium 27613247
2024 The MT-ND1 m.3635G>A (p.S110N) mutation disrupts electrostatic interactions between S110 of MT-ND1 and E4/M1 of NDUFA1 within CI, altering CI assembly and function. Cybrid cells exhibit CI activity deficiency, impaired mitochondrial respiration, depolarized membrane potential, elevated cytochrome c release, activation of caspases 3/7/9 and PARP (apoptosis), and impaired PINK1/Parkin-dependent mitophagy with accumulation of P62. Cybrid cell model; structural analysis of MT-ND1/NDUFA1 interaction; CI activity assay; mitochondrial respiration assay; membrane potential measurement; cytochrome c release; Western blot (apoptosis and mitophagy markers including LC3, P62, PARP, caspases) Gene Medium 39147111
2023 A rare MT-ND1 variant m.4135T>C (p.Tyr277His) leads to successfully assembled CI but with disturbed supercomplex formation and markedly reduced CI enzymatic activity, suggesting the mutation stabilizes CI in its inactive form, establishing that Tyr277 of ND1 is critical for CI activity and supercomplex stability rather than assembly per se. Patient muscle and fibroblast functional studies; CI activity assay; supercomplex analysis (BN-PAGE); CI assembly assessment Frontiers in genetics Medium 37274791
2006 A 7-bp intragenic inversion within MTND1 causes CI deficiency. Transmitochondrial cybrid cells containing high mutant loads of the inversion expressed the biochemical defect (CI deficiency) but showed apparently normal levels of assembled CI complex, indicating the mutation impairs CI function without blocking overall CI assembly. Cybrid cells (transmitochondrial hybrids) with defined mutation loads; CI activity/assembly analysis; tissue-level heteroplasmy quantification Pediatric research Medium 16492986
2013 A new MT-ND1 mutation m.3928G>C (p.V208L) causes CI deficiency with intact CI assembly, and response to coenzyme Q was reduced. The V208 residue is located in the coenzyme Q binding pocket of ND1, identifying ND1's coenzyme Q-binding domain as critical for CI enzymatic activity. Patient clinical and biochemical characterization; CI enzyme activity assay with coenzyme Q titration; CI assembly analysis; sequencing of MT-ND1 Mitochondrion Low 24063851

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
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 138 20861017
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 99 22429648
2008 A phylogeny of members of the family Taeniidae based on the mitochondrial cox1 and nad1 gene data. Parasitology 98 18937885
2011 A mutation threshold distinguishes the antitumorigenic effects of the mitochondrial gene MTND1, an oncojanus function. Cancer research 90 21852384
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 79 27815362
2004 Distribution of introns in the mitochondrial gene nad1 in land plants: phylogenetic and molecular evolutionary implications. Molecular phylogenetics and evolution 73 15186811
2005 LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. European journal of human genetics : EJHG 71 15657614
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
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 59 28981788
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
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
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
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 38 34311469
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 37 27333991
2013 Evidence for high genetic diversity of NAD1 and COX1 mitochondrial haplotypes among triclabendazole resistant and susceptible populations and field isolates of Fasciola hepatica (liver fluke) in Australia. Veterinary parasitology 37 24360656
2017 NAD1 Controls Defense-Like Responses in Medicago truncatula Symbiotic Nitrogen Fixing Nodules Following Rhizobial Colonization in a BacA-Independent Manner. Genes 35 29240711
2017 The plant defensin NaD1 induces tumor cell death via a non-apoptotic, membranolytic process. Cell death discovery 32 28179997
2008 Progressive encephalopathy and complex I deficiency associated with mutations in MTND1. Neuropediatrics 31 18504678
2024 Mitochondrial complex I subunit MT-ND1 mutations affect disease progression. Heliyon 30 38596130
2011 Phylogenetic relationships of the marine Haplosclerida (Phylum Porifera) employing ribosomal (28S rRNA) and mitochondrial (cox1, nad1) gene sequence data. PloS one 30 21931685
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 29 33297963
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
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
2019 A Mitochondrial Transcription Termination Factor, ZmSmk3, Is Required for nad1 Intron4 and nad4 Intron1 Splicing and Kernel Development in Maize. G3 (Bethesda, Md.) 26 31196888
2014 Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions. BMC neurology 25 24884847
2015 Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression. Clinical science (London, England : 1979) 23 25626417
2010 Mutations in mitochondrial NADH dehydrogenase subunit 1 (mtND1) gene in colorectal carcinoma. The Malaysian journal of pathology 23 21329181
2021 Quantitative detection of circulating MT-ND1 as a potential biomarker for colorectal cancer. Bosnian journal of basic medical sciences 22 33823124
2010 Monophyly of Opisthorchis viverrini populations in the lower Mekong Basin, using mitochondrial DNA nad1 gene as the marker. Parasitology international 21 20197110
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 19 34279607
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 Sequence variation in mitochondrial cox1 and nad1 genes of ascaridoid nematodes in cats and dogs from Iran. Journal of helminthology 19 24717402
2013 Novel mutations m.3959G>A and m.3995A>G in mitochondrial gene MT-ND1 associated with MELAS. Mitochondrial DNA 18 23834081
1993 The nad6 gene and the exon d of nad1 are co-transcribed in wheat mitochondria. Current genetics 18 7507801
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
2012 Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. Biochimica et biophysica acta 17 23246842
2013 A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms. Mitochondrion 16 24063851
2006 Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. Pediatric research 15 16492986
2015 Development and evaluation of PCR methods based on cytochrome c oxidase subunit one (cox1) and NADH dehydrogenase subunit one gene (nad1) to detect Opisthorchis viverrini in human fecal samples. Parasitology research 14 26239798
2014 New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy. Clinical & experimental ophthalmology 14 24800637
1997 A mitochondrial sub-stoichiometric orf87-nad3-nad1 exonA co-transcription unit present in solanaceae was amplified in the genus Nicotiana. Current genetics 14 9000381
2020 Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON). Stem cell research 13 32771908
2018 Resistance to the Plant Defensin NaD1 Features Modifications to the Cell Wall and Osmo-Regulation Pathways of Yeast. Frontiers in microbiology 13 30087664
2017 Genetic analysis of Bactrocera zonata (Diptera: Tephritidae) populations from India based on cox1 and nad1 gene sequences. Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis 13 28712341
2016 Genetic analysis of oriental fruit fly, Bactrocera dorsalis (Diptera: Tephritidae) populations based on mitochondrial cox1 and nad1 gene sequences from India and other Asian countries. Genetica 13 27699519
2023 De novo frameshift variant in MT-ND1 causes a mitochondrial complex I deficiency associated with MELAS syndrome. Gene 12 36717040
2018 Unravelling the Effects of the Mutation m.3571insC/MT-ND1 on Respiratory Complexes Structural Organization. International journal of molecular sciences 12 29518970
2017 Differentiation of Toxocara canis and Toxocara cati based on PCR-RFLP analyses of rDNA-ITS and mitochondrial cox1 and nad1 regions. Acta parasitologica 12 28682773
2023 Roles of MT-ND1 in Cancer. Current medical science 11 37642864
2020 Maize Defective Kernel605 Encodes a Canonical DYW-Type PPR Protein that Edits a Conserved Site of nad1 and Is Essential for Seed Nutritional Quality. Plant & cell physiology 11 32818255
2017 Synergistic Activity between Two Antifungal Proteins, the Plant Defensin NaD1 and the Bovine Pancreatic Trypsin Inhibitor. mSphere 10 29062897
2016 Molecular and phylogenetic analyses of the liver amphistome Explanatum explanatum (Creplin, 1847) Fukui, 1929 in ruminants from Bangladesh and Nepal based on nuclear ribosomal ITS2 and mitochondrial nad1 sequences. Journal of helminthology 10 27328647
2013 Rearrangement of the nad1 gene in Pristaulacus compressus (Spinola) (Hymenoptera: Evanioidea: Aulacidae) mitochondrial genome. Mitochondrial DNA 10 24083975
2013 Characterization of Dicrocoelium dendriticum haplotypes from sheep and cattle in Iran based on the internal transcribed spacer 2 (ITS-2) and NADH dehydrogenase gene (nad1). Journal of helminthology 10 24119243
2007 Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach. The Journal of molecular diagnostics : JMD 10 17652639
2002 Resistance to Fusarium oxysporum f. sp. melonis Race 1,2 in Muskmelon Lines Nad-1 and Nad-2. Plant disease 10 30818645
2020 Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations. Human molecular genetics 9 32011699
2016 3697G>A in MT-ND1 is a causative mutation in mitochondrial disease. Mitochondrion 9 27017994
2016 Plant Defensins NaD1 and NaD2 Induce Different Stress Response Pathways in Fungi. International journal of molecular sciences 9 27598152
2016 Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome. Biochimica et biophysica acta. Molecular basis of disease 9 27613247
2020 Genotyping of Fresh and Parafinized Human Hydatid Cysts Using nad1 and cox1 Genes in Hamadan Province, West of Iran. Iranian journal of parasitology 8 32595717
2017 Prevalence of three Oesophagostomum spp. from Tibetan Pigs analyzed by Genetic Markers of nad1, cox3 and ITS1. Acta parasitologica 8 28030349
2017 Phylogenetic relationships between Dicrocoelium chinensis populations in Japan and China based on mitochondrial nad1 gene sequences. Parasitology research 8 28735469
2021 The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes. Mitochondrion 7 34390870
2021 Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome. Mitochondrion 6 34656796
2019 Mitochondrial genome characterization of the family Trigonidiidae (Orthoptera) reveals novel structural features and nad1 transcript ends. Scientific reports 6 31836821
2023 Global scenario of genetic diversity in cox1 and nad1 genes of Moniezia expansa. Parasite epidemiology and control 5 38188479
2022 Cloning and Organelle Expression of Bamboo Mitochondrial Complex I Subunits Nad1, Nad2, Nad4, and Nad5 in the Yeast Saccharomyces cerevisiae. International journal of molecular sciences 5 35409414
2022 Group II Intron-Encoded Proteins (IEPs/Maturases) as Key Regulators of Nad1 Expression and Complex I Biogenesis in Land Plant Mitochondria. Genes 5 35885919
2020 Clinicopathological findings of a mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes/Leigh syndrome overlap patient with a novel m.3482A>G mutation in MT-ND1. Neuropathology : official journal of the Japanese Society of Neuropathology 5 33300189
2016 Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene. Biochemical and biophysical research communications 5 27155156
2022 The clinically relevant triple mutation in the mtND1 gene inactivates Escherichia coli complex I. FEBS letters 4 35234296
2019 Ptychographic imaging of NaD1 induced yeast cell death. Biomedical optics express 4 31646022
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. Human genetics 4 28526948
2015 Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation. JIMD reports 4 26108648
1993 Occurrence and transcription of genes for nad1, nad3, nad4L, and nad6, coding for NADH dehydrogenase subunits 1, 3, 4L, and 6, in liverwort mitochondria. Current genetics 4 7916672
2024 Effects of the Tobacco Defensin NaD1 Against Susceptible and Resistant Strains of Candida albicans. Pathogens (Basel, Switzerland) 3 39770352
2016 Molecular characterization and phylogenetic analysis of Explanatum explanatum in India based on nucleotide sequences of ribosomal ITS2 and the mitochondrial gene nad1. The Journal of veterinary medical science 3 27523505
2024 Study on the genotypes of Echinococcus granulosus in yaks and sheep from Langkazi County in Tibet Autonomous Region of China based on mitochondrial cox1 and nad1. Parasitology research 2 38353756
2023 Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes. Frontiers in genetics 2 37274791
2022 ZmnMAT1, a nuclear-encoded type I maturase, is required for the splicing of mitochondrial Nad1 intron 1 and Nad4 intron 2. Frontiers in plant science 2 36507372
2021 Sequence analysis, intra-genotyping variation, and phylogenetic study of nad1 gene in Echinococcus granulosus sensu lato genotypes from intermediate hosts in southwestern Iran. Veterinary parasitology, regional studies and reports 2 34879965
2020 Molecular Characterization of Fasciola spp. from a Donkey (Equus asinus) Using Partial Sequencing of cox1 and nad1. Iranian journal of parasitology 2 33884012
2016 [The role of MT-ND1 m.3635G>A mutation in Leber's hereditary optic neuropathy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2 27984598
2011 Crystallization and preliminary X-ray crystallographic analysis of the plant defensin NaD1. Acta crystallographica. Section F, Structural biology and crystallization communications 2 22232180
2023 Update on the genetic diversity and population structure of Echinococcus granulosus in Gansu Province, Tibet Autonomous Region, and Xinjiang Uygur Autonomous Region, Western China, inferred from mitochondrial cox1, nad1, and nad5 sequences. Parasitology research 1 36933066
2020 Genetic variation of NADH dehydrogenase subunit 1 (nad1) mitochondrial gene sequence in adult Necator americanus hookworms recovered from a female patient in Thailand. Tropical biomedicine 1 33612820
2015 [Spatial Distribution of Intron 2 of nad1 Gene Haplotypes in Populations of Norway and Siberian Spruce (Picea abies-P. obovata) Species Complex]. Genetika 1 27169226
2024 Dysregulation of mitochondria, apoptosis and mitophagy in Leber's hereditary optic neuropathy with MT-ND1 3635G>A mutation. Gene 0 39147111
2024 Expression of a novel NaD1 recombinant antimicrobial peptide enhances antifungal and insecticidal activities. Scientific reports 0 39369025

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