Affinage

MT-ND5

NADH-ubiquinone oxidoreductase chain 5 · UniProt P03915

Length
603 aa
Mass
67.0 kDa
Annotated
2026-06-10
100 papers in source corpus 18 papers cited in narrative 18 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-ND5 encodes a core hydrophobic, membrane-embedded subunit of mitochondrial respiratory complex I (NADH:ubiquinone oxidoreductase) that is required for assembly of the distal membrane arm and contributes to the enzyme's proton-translocation mechanism (PMID:12534287, PMID:15250827, PMID:18258177). Photoaffinity labeling of the bovine subunit places ND5 at or near the inhibitor- and quinone-binding region, and its labeling is sensitive to amiloride derivatives that block Na+/H+ antiporters, consistent with a role at a coupling site (PMID:12534287). Studies of the bacterial homologue NuoL establish the underlying mechanism: conserved residues mediate the indirect, antiporter-like proton pumping of complex I, the C-terminal transmembrane helices are structurally critical for stability of the entire membrane arm, and a truncated form reconstituted into proteoliposomes directly transports Na+ in an EIPA-inhibitable manner (PMID:20826797, PMID:12740360, PMID:21835926). Loss of ND5 prevents formation of intact complex I, yielding only partial subcomplexes lacking distal membrane-domain subunits (PMID:15250827, PMID:18258177), and heterologously expressed human ND5 can alter cellular cation homeostasis independent of other subunits (PMID:20528953). Pathogenic MT-ND5 mutations cause complex I deficiency with reduced membrane potential, lowered ATP, impaired mitochondrial Ca2+ uptake, and elevated ROS (PMID:11198278, PMID:17940288, PMID:27110715, PMID:29579248, PMID:26014388); downstream consequences include AMPK-driven compensatory mitophagy, ROS-dependent DNA-damage responses, and P53-dependent pro-cancerous phenotypes (PMID:26206091, PMID:28502718, PMID:28842646). ND5 expression is post-transcriptionally controlled by TRMT10C-catalyzed m1A methylation of ND5 mRNA, which represses its translation, and by AKT-phosphorylated DAP3, which promotes ND5 translation and complex I activity (PMID:38287100, PMID:39080251).

Mechanistic history

Synthesis pass · year-by-year structured walk · 17 steps
  1. 2003 High

    Established where ND5 acts within complex I by physically locating it at the inhibitor/quinone-binding region and linking it to ion translocation.

    Evidence Photoaffinity labeling of bovine ND5 with [3H]TDF combined with inhibitor-sensitivity and NADH-ubiquinone reductase assays

    PMID:12534287

    Open questions at the time
    • Does not define the catalytic residues involved
    • Antiporter-like proton pumping inferred from inhibitor sensitivity, not measured directly
  2. 2003 High

    Provided the first direct demonstration that the ND5 homologue can transport ions, showing reconstituted NuoL moves Na+ across a membrane.

    Evidence Heterologous expression, membrane-vesicle Na+ uptake, and proteoliposome reconstitution of truncated NuoL in E. coli

    PMID:12740360

    Open questions at the time
    • Used a truncated, not intact, subunit
    • Whether full-length ND5 in mammalian complex I transports Na+ in vivo not shown
  3. 2004 High

    Defined ND5 as required for membrane-arm assembly of complex I in human cells, distinguishing assembly failure from catalytic failure.

    Evidence Membrane fractionation and immunoblotting of nuclear-encoded subunits in ND5 non-expressing human cell lines

    PMID:15250827

    Open questions at the time
    • Stepwise assembly order not resolved
    • Functional significance of prohibitin association with the subcomplex unclear
  4. 2008 High

    Confirmed across a divergent eukaryote that ND5 loss blocks assembly of the full enzyme, yielding a distal-membrane-deficient subcomplex.

    Evidence Chlamydomonas nd5 deletion mutant analyzed by blue native PAGE and mass spectrometry

    PMID:18258177

    Open questions at the time
    • Identity of the assembly intermediate's interactions not mapped
    • Does not address mammalian-specific assembly factors
  5. 2010 High

    Resolved the mechanistic contribution of ND5 to proton pumping by showing conserved NuoL residues set the H+/e- ratio without affecting quinone reduction.

    Evidence Chromosomal site-directed mutagenesis of 13 NuoL residues with proton pumping and EIPA inhibition assays in E. coli

    PMID:20826797

    Open questions at the time
    • Conformational coupling mechanism between quinone site and distal pump not defined
    • Mammalian residue equivalence inferred from homology
  6. 2010 Medium

    Showed human ND5 can independently influence cation homeostasis, supporting a transport-related function outside the assembled complex.

    Evidence Organelle-targeted expression of human ND5 variants in S. cerevisiae with salt-sensitivity growth assays

    PMID:20528953

    Open questions at the time
    • Ion transport readout is indirect (growth)
    • Single-lab heterologous system
  7. 2011 High

    Identified the ND5 C-terminus as structurally essential, with C-terminal helix truncation destabilizing the entire membrane arm.

    Evidence Chromosomal STOP-codon truncations of NuoL with activity and assembly analysis in E. coli

    PMID:21835926

    Open questions at the time
    • Specific stabilizing contacts not identified
    • Mammalian C-terminus role not directly tested
  8. 2007 High

    Linked an ND5 mutation to a pathophysiological energy mechanism: glycolytic ATP is consumed to sustain membrane potential when complex I fails.

    Evidence Cybrid cells with m.13528A>G analyzed by respirometry, membrane potential, and ANT/ATPase/glycolysis inhibition

    PMID:17940288

    Open questions at the time
    • Long-term cellular consequences not addressed
    • Tissue-specific relevance untested
  9. 2001 Medium

    Demonstrated dose-dependent pathogenicity by correlating ND5 D393 mutation heteroplasmy with complex I activity loss.

    Evidence Transmitochondrial cybrids with heteroplasmy quantification and complex I assays

    PMID:11198278

    Open questions at the time
    • Structural basis of D393 criticality not determined
    • No reconstitution of the residue's function
  10. 2015 Medium

    Connected ND5-driven complex I dysfunction to compensatory mitophagy via reduced mitochondrial Ca2+ uptake and AMPK signaling.

    Evidence Patient fibroblasts with 13514A>G analyzed for autophagic flux, Ca2+ homeostasis, and AMPK pathway with genetic/pharmacological manipulation

    PMID:26206091

    Open questions at the time
    • Causal AMPK activator step not fully isolated
    • Mutation-specific versus general complex I deficiency effect not separated
  11. 2015 Medium

    Showed ND5 mutations can secondarily destabilize complex IV, indicating broader OXPHOS consequences beyond complex I.

    Evidence Cybrids with m.12955A>G assayed for complex I/IV activity, assembly, respiration, ATP, ROS, and lactate

    PMID:26014388

    Open questions at the time
    • Mechanism of complex IV destabilization not defined
    • Single mutation tested
  12. 2016 Medium

    Extended the energy-failure mechanism to calcium handling, showing glycolytic ATP is needed to maintain Ca2+ homeostasis in ND5-mutant cells.

    Evidence Cybrids with m.13565C>T assayed for NADH oxidation, membrane potential, Ca2+ uptake, and glycolysis inhibition

    PMID:27110715

    Open questions at the time
    • Downstream Ca2+-dependent signaling not traced
    • Neuronal relevance not tested in this model
  13. 2017 Medium

    Defined a ROS-to-nuclear-DNA-damage pathway, showing ND5-mutation-driven ROS triggers DROSHA-dependent DDR in neurons.

    Evidence Differentiated PD-patient cybrid neurons with ROS scavenging rescue and DROSHA manipulation

    PMID:28842646

    Open questions at the time
    • DROSHA's mechanistic role in DDR foci not fully defined
    • Single mutation and cell model
  14. 2017 Medium

    Linked a somatic ND5 mutation to oncogenic metabolic reprogramming through a P53-dependent ROS mechanism.

    Evidence Mitochondrial expression of P265H ND5 in P53-deficient cells with complex I, ROS, ATP/ADP, and growth assays

    PMID:28502718

    Open questions at the time
    • Mechanism of P53-dependence not resolved
    • Exogenous overexpression system
  15. 2018 High

    Showed an ND5 start-codon mutation reduces ND5 polypeptide and triggers apoptosis with suppressed mitophagy, contrasting with other mutations that elevate mitophagy.

    Evidence LHON-patient cybrids with comprehensive assembly, respiration, ROS, apoptosis, and mitophagy marker analysis

    PMID:29579248

    Open questions at the time
    • Basis for divergent mitophagy outcomes across mutations not explained
    • Translation initiation defect mechanism not detailed
  16. 2024 Medium

    Identified post-transcriptional control of ND5 by m1A mRNA methylation, linking TRMT10C upregulation to translational repression and complex I dysfunction in Alzheimer's disease.

    Evidence AD cell models and patient tissue with m1A quantification, TRMT10C overexpression, and complex I assays

    PMID:38287100

    Open questions at the time
    • Reader proteins recognizing the m1A mark not identified
    • Single-lab disease association
  17. 2024 Medium

    Revealed a kinase-controlled translational regulator of ND5, showing AKT-phosphorylated DAP3 promotes ND5 translation and complex I activity in cancer.

    Evidence DAP3 knockdown/overexpression and S185A mutagenesis in HCC cells with translation, complex I, and xenograft assays

    PMID:39080251

    Open questions at the time
    • Direct DAP3–ND5 mRNA interaction not shown
    • Mechanism of translational promotion not detailed

Open questions

Synthesis pass · forward-looking unresolved questions
  • Whether mammalian ND5 directly translocates Na+/H+ in the intact assembled complex in vivo, and how the quinone site is conformationally coupled to the distal pump, remains unresolved.
  • Direct ion-transport measurements exist only for truncated bacterial homologue
  • No high-resolution mechanistic model of human ND5 coupling in the timeline

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016491 oxidoreductase activity 3 GO:0005198 structural molecule activity 2 GO:0005215 transporter activity 2
Localization
GO:0005739 mitochondrion 3
Pathway
R-HSA-1430728 Metabolism 3
Partners
DAP3PROHIBITINTRMT10C
Complex memberships
mitochondrial respiratory complex I (NADH:ubiquinone oxidoreductase)

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2003 The ND5 subunit of bovine mitochondrial complex I was directly labeled by a photoaffinity analogue of fenpyroximate ([(3)H]TDF), demonstrating that ND5 is at or near the inhibitor- and quinone-binding site(s) of complex I. Labeling was stimulated by NADH/NADPH and prevented by various complex I inhibitors, including amiloride derivatives (Na+/H+ antiporter inhibitors), suggesting ND5 participates in H+(Na+) translocation at coupling site 1. Photoaffinity labeling with [(3)H]TDF, blue native gel electrophoresis, 2D SDS-PAGE, NADH oxidase activity assay, NADH-ubiquinone-1 reductase inhibition assays Biochemistry High 12534287
2010 The E. coli NuoL subunit (ND5 homologue) is involved in the indirect (antiporter-like) proton pumping mechanism of complex I. Site-directed mutagenesis of 13 conserved residues in NuoL reduced proton pumping efficiency (H+/e- ratio) by 30–50% without affecting the direct coupling site or quinone reductase activity, and the amiloride derivative EIPA selectively inhibited H+ pumping in wild-type but not in NuoL mutants with already-reduced pumping. Site-directed mutagenesis of chromosomal nuoL gene, dNADH oxidase activity assays, proton pumping measurements in membrane vesicles, EIPA inhibitor studies The Journal of biological chemistry High 20826797
2003 Expression of a C-terminally truncated NuoL (ND5 homologue) in E. coli conferred Na+-dependent growth inhibition and increased Na+ uptake in membrane vesicles. Reconstitution of purified truncated NuoLN into proteoliposomes demonstrated direct Na+ transport along a concentration gradient, inhibitable by EIPA, establishing NuoL/ND5 as a Na+ transporter. Heterologous expression in E. coli, Na+ uptake assay in membrane vesicles, affinity chromatography purification, reconstitution into proteoliposomes, ion transport assay The Journal of biological chemistry High 12740360
2004 Absence of ND5 expression in human cells caused loss of NADH:ubiquinone oxidoreductase (complex I) activity and altered the membrane association of the 24 kDa nuclear-encoded subunit specifically, while most other nuclear-encoded subunits remained membrane-associated. This defined ND5 as required for proper assembly of the membrane arm of complex I. Immunopurification also revealed that prohibitin associates with a complex I subcomplex containing the 23, 30, and 49 kDa subunits. Analysis of ND5 non-expressing human cell lines, membrane fractionation, SDS-PAGE immunoblotting of nuclear-encoded complex I subunits, immunopurification of subcomplexes The Biochemical journal High 15250827
2011 The C-terminal segments of NuoL (ND5 homologue) and NuoM (ND4 homologue) in E. coli complex I are structurally critical: truncation of NuoL removing the last transmembrane helix (TM16) or together with HL helix and TM15 led to reduced stability of the entire membrane arm and loss of NADH-quinone oxidoreductase activity, establishing an important structural role for the ND5 C-terminus in complex I architecture. Site-directed mutagenesis introducing STOP codons at C-terminal positions in chromosomal nuoL gene, NADH-quinone oxidoreductase activity assays, complex I assembly analysis The Journal of biological chemistry High 21835926
2008 Loss of the ND5 subunit in Chlamydomonas reinhardtii (due to a 1T deletion in nd5) prevents assembly of the full 950 kDa complex I, resulting instead in a low-abundant 700 kDa subcomplex loosely associated with the inner mitochondrial membrane. Mass spectrometry identified 16 subunits in this subcomplex, comprising primarily hydrophilic arm subunits but lacking the beta membrane domain subunits, establishing that ND5 is required for assembly of the distal membrane domain of complex I. Chlamydomonas nd5 deletion mutant analysis, blue native PAGE, SDS-PAGE, mass spectrometry identification of subcomplex components Biochimica et biophysica acta High 18258177
2010 Wild-type human ND5 and a disease-associated variant (E145V) targeted to the ER or inner mitochondrial membrane of S. cerevisiae (which lacks endogenous complex I) altered cation homeostasis: ER-resident ND5 conferred Li+ sensitivity (lost in E145V variant) and all ND5 variants increased resistance to high Na+ or K+. This established that ND5 can influence cation transport independent of other complex I subunits. Expression of GFP/FLAG-tagged ND5 variants in S. cerevisiae, organelle-specific targeting confirmed by microscopy and cellular fractionation, growth assays in varied salt conditions FEMS yeast research Medium 20528953
2001 The 13514A>G mutation in ND5 (D393G substitution) caused complex I deficiency in cybrid cells; a strong positive correlation was found between heteroplasmy percentage and defective complex I activity, demonstrating that amino acid position D393 is functionally critical for complex I activity. Transmitochondrial cybrid cell generation, complex I activity assays, heteroplasmy quantification across tissues Annals of neurology Medium 11198278
2007 A homoplasmic m.13528A>G mutation in MT-ND5 caused reduced complex I-linked respiration and decreased mitochondrial membrane potential (Δψm) in cybrid cells. When glycolysis was inhibited, mitochondria depolarized, demonstrating that ATP generated by glycolysis is consumed by mitochondria to maintain Δψm when complex I is dysfunctional — a pathophysiological mechanism linking ND5 mutation to ATP consumption. Transmitochondrial cybrid cell fusion, respirometry, mitochondrial membrane potential measurements, inhibition of ANT (bongkrekic acid), F1F0-ATPase (oligomycin), and glycolysis (2-deoxy-D-glucose) The Journal of biological chemistry High 17940288
2016 A homoplasmic m.13565C>T mutation in MT-ND5 reduced NADH oxidation and mitochondrial membrane potential (Δψm) in cybrid cells. These metabolic defects caused decreased mitochondrial Ca2+ uptake in response to cytosolic Ca2+ transients. Inhibition of glycolysis increased cytosolic Ca2+ in mutant but not control cybrids, establishing that glycolytically generated ATP is required to maintain both Δψm and cellular Ca2+ homeostasis in ND5-mutant cells. Transmitochondrial cybrids, NADH oxidation measurements, mitochondrial membrane potential imaging, Ca2+ uptake assays, glycolysis inhibition with 2-deoxy-D-glucose PloS one Medium 27110715
2015 Patient fibroblasts carrying the 13514A>G MT-ND5 mutation exhibited increased autophagic flux (mitophagy) compared to other ND5 mutant or control fibroblasts. This was caused by a specific downregulation of mitochondrial Ca2+ uptake that stimulated autophagy through the AMPK signaling axis. Genetic and pharmacological manipulation of mitochondrial Ca2+ homeostasis reversed the autophagic phenotype but decreased cell viability, identifying elevated mitophagy as a pro-survival compensatory mechanism. Patient-derived fibroblast cell culture, autophagic flux assays, mitochondrial morphology and membrane potential measurement, Ca2+ homeostasis assays, AMPK pathway analysis, pharmacological and genetic manipulation of Ca2+ uptake Cell death and differentiation Medium 26206091
2018 The m.12338T>C mutation in MT-ND5 (affecting the initiating Met1 codon, shortening ND5 by 2 amino acids) reduced ND5 polypeptide levels, perturbed complex I assembly and activity in cybrid cell models, caused respiratory deficiency, reduced mitochondrial ATP and membrane potential, increased ROS, promoted apoptosis (elevated cytochrome c release, caspase 9/3/7/PARP activation), and decreased mitophagy (reduced LC3, accumulation of p62). Transmitochondrial cybrid cells generated from LHON patients, complex I assembly and activity assays, respirometry, membrane potential measurement, ROS quantification, apoptosis markers, mitophagy markers (LC3, p62) Human molecular genetics High 29579248
2017 Overexpression of an ND5 somatic mutation (P265H) in mitochondria of cells with non-functional P53 reduced complex I activity, increased ADP/ATP ratio, elevated ROS (both peroxide and superoxide), caused protein carbonylation, and epigenetically upregulated anti-apoptotic genes, resulting in pro-cancerous phenotypes (anchorage-independent growth, increased glucose uptake and lactate production). These phenotypes were P53-dependent and not observed in cells with functional P53. Codon-optimized vector-mediated mitochondrial expression of wild-type and mutant ND5, complex I activity assay, ROS measurement, protein carbonylation assay, ATP/ADP ratio, epigenetic analysis of apoptosis gene promoters, anchorage-independent growth and metabolic assays Mitochondrion Medium 28502718
2024 N1-methylation of adenosine (m1A) at a specific site in mitochondrial ND5 mRNA is enhanced in Alzheimer's disease (AD) cell models and AD patient samples. This methylation is catalyzed by increased TRMT10C protein levels. TRMT10C-induced m1A methylation of ND5 mRNA causes translational repression of ND5 and consequent mitochondrial complex I dysfunction. AD cell model and patient tissue analysis, m1A methylation quantification, TRMT10C overexpression, ND5 protein level measurement, complex I activity assays Molecular psychiatry Medium 38287100
2024 DAP3 (death-associated protein 3), a mitochondria-localized protein, promotes mitochondrial complex I activity in hepatocellular carcinoma cells by regulating the translation and expression of MT-ND5. AKT-mediated phosphorylation of DAP3 at Ser185 is required for its mitochondrial localization and function. Loss or gain of DAP3 correspondingly decreased or increased MT-ND5 levels and complex I activity. DAP3 knockdown and overexpression in HCC cells, MT-ND5 translation and expression analysis, complex I activity assays, AKT inhibition, phosphorylation site mutagenesis (S185A), in vivo xenograft models Cell death & disease Medium 39080251
2017 In differentiated PD-patient-derived cybrid cells harboring a missense MT-ND5 mutation, increased intracellular ROS caused chronic DNA damage response (DDR) activation. ROS scavenging prevented DDR, establishing causality. The assembly of nuclear DDR foci induced by oxidative stress in these cells required DROSHA, identifying a mechanism linking mitochondrial ND5 mutation → ROS → DROSHA-dependent DDR in post-mitotic neurons. Differentiated cybrid neuronal cells, ROS scavenging experiments, DDR foci immunofluorescence, DROSHA knockdown/manipulation, sequence analysis of mitogenomes Scientific reports Medium 28842646
2002 The T12706C mutation in MT-ND5 introduces an amino acid change in an invariant residue in a predicted transmembrane helix of ND5 and was associated with complex I deficiency in muscle and fibroblasts, supporting a functional role for this transmembrane domain in complex I activity. Direct sequencing of mtDNA ND genes, heteroplasmy quantification in muscle and fibroblasts, biochemical complex I activity measurement European journal of human genetics : EJHG Low 11938446
2015 A novel heteroplasmic m.12955A>G mutation in MT-ND5 impaired complex I assembly and reduced stability of complex IV in transmitochondrial cybrid cells. Functional defects included lower OXPHOS coupling respiration, reduced ATP generation, and increased ROS and lactate in cells with higher mutant load. Transmitochondrial cybrid cells, complex I and IV activity assays, complex I assembly analysis, OXPHOS respirometry, ATP measurement, ROS and lactate quantification Scientific reports Medium 26014388

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1997 Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochemical and biophysical research communications 133 9299505
2012 PPR2263, a DYW-Subgroup Pentatricopeptide repeat protein, is required for mitochondrial nad5 and cob transcript editing, mitochondrion biogenesis, and maize growth. The Plant cell 123 22319053
2004 Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin. The Biochemical journal 118 15250827
2003 Frequent mitochondrial gene rearrangements at the hymenopteran nad3-nad5 junction. Journal of molecular evolution 107 12698290
2010 Genetic characterization of ticks from southwestern Romania by sequences of mitochondrial cox1 and nad5 genes. Experimental & applied acarology 106 20473707
2003 Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? Annals of neurology 98 12509858
2008 The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases. Archives of neurology 95 18332249
2005 Mitochondrial ND5 mutations in idiopathic Parkinson's disease. Biochemical and biophysical research communications 94 15596151
1991 Trans splicing integrates an exon of 22 nucleotides into the nad5 mRNA in higher plant mitochondria. The EMBO journal 90 1915303
1999 The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. Annals of neurology 87 10589546
2003 The ND5 subunit was labeled by a photoaffinity analogue of fenpyroximate in bovine mitochondrial complex I. Biochemistry 83 12534287
2010 The membrane subunit NuoL(ND5) is involved in the indirect proton pumping mechanism of Escherichia coli complex I. The Journal of biological chemistry 80 20826797
2003 ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy. Human molecular genetics 80 14613972
2001 A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Annals of neurology 80 11198278
2012 Rice MPR25 encodes a pentatricopeptide repeat protein and is essential for RNA editing of nad5 transcripts in mitochondria. The Plant journal : for cell and molecular biology 79 22747551
2002 Leigh disease associated with a novel mitochondrial DNA ND5 mutation. European journal of human genetics : EJHG 77 11938446
2018 Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T > C mutation altered the assembly and function of complex I, apoptosis and mitophagy. Human molecular genetics 66 29579248
2007 Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption. The Journal of biological chemistry 65 17940288
2014 The Pentatricopeptide Repeat Proteins TANG2 and ORGANELLE TRANSCRIPT PROCESSING439 Are Involved in the Splicing of the Multipartite nad5 Transcript Encoding a Subunit of Mitochondrial Complex I. Plant physiology 64 24958715
1991 A trans-splicing model for the expression of the tripartite nad5 gene in wheat and maize mitochondria. The Plant cell 64 1726722
2007 Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. Journal of medical genetics 58 17400793
2005 Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. Archives of neurology 58 15767514
2003 A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology 57 12796552
1987 Structure and expression of the overlapping ND4L and ND5 genes of Neurospora crassa mitochondria. Molecular & general genetics : MGG 55 3035337
2018 MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load. EBioMedicine 54 29506874
2015 Reduced mitochondrial Ca(2+) transients stimulate autophagy in human fibroblasts carrying the 13514A>G mutation of the ND5 subunit of NADH dehydrogenase. Cell death and differentiation 54 26206091
2000 'Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation. Brain : a journal of neurology 53 10960053
2021 OsNBL3, a mitochondrion-localized pentatricopeptide repeat protein, is involved in splicing nad5 intron 4 and its disruption causes lesion mimic phenotype with enhanced resistance to biotic and abiotic stresses. Plant biotechnology journal 52 34197672
2017 The Mitochondrion-Targeted PENTATRICOPEPTIDE REPEAT78 Protein Is Required for nad5 Mature mRNA Stability and Seed Development in Maize. Molecular plant 47 28951060
2011 The PPR-DYW proteins are required for RNA editing of rps14, cox1 and nad5 transcripts in Physcomitrella patens mitochondria. FEBS letters 46 21708151
2008 Mitochondrial ND5 T12338C, tRNA(Cys) T5802C, and tRNA(Thr) G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees. American journal of medical genetics. Part A 45 18386806
2000 Pattern of morphological diversification in the Leptocarabus ground beetles (Coleoptera: Carabidae) as deduced from mitochondrial ND5 gene and nuclear 28S rDNA sequences. Molecular biology and evolution 45 10666713
1999 Evolution of the mitochondrial rps3 intron in perennial and annual angiosperms and homology to nad5 intron 1. Molecular biology and evolution 45 10331271
2003 Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J. Molecular biology and evolution 44 12949126
2003 The C-terminally truncated NuoL subunit (ND5 homologue) of the Na+-dependent complex I from Escherichia coli transports Na+. The Journal of biological chemistry 43 12740360
1989 Increased level of the mitochondrial ND5 transcript in chemically induced rat hepatomas. Experimental cell research 41 2507335
1999 Phylogeny of Japanese papilionid butterflies inferred from nucleotide sequences of the mitochondrial ND5 gene. Journal of molecular evolution 39 9873075
2011 Structural contribution of C-terminal segments of NuoL (ND5) and NuoM (ND4) subunits of complex I from Escherichia coli. The Journal of biological chemistry 37 21835926
2024 N1-methylation of adenosine (m1A) in ND5 mRNA leads to complex I dysfunction in Alzheimer's disease. Molecular psychiatry 32 38287100
2010 Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families. Ophthalmology 32 21131053
1999 Alteration of dark respiration and reduction of phototrophic growth in a mitochondrial DNA deletion mutant of Chlamydomonas lacking cob, nd4, and the 3' end of nd5. The Plant cell 32 9878636
2015 Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia. JIMD reports 31 25681084
2009 A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy. Neuromuscular disorders : NMD 31 20018511
2016 Relative compatibility of Schistosoma mansoni with Biomphalaria sudanica and B. pfeifferi from Kenya as assessed by PCR amplification of the S. mansoni ND5 gene in conjunction with traditional methods. Parasites & vectors 30 27000855
1998 Origin and diversification of hindwingless Damaster ground beetles within the Japanese islands as deduced from mitochondrial ND5 gene sequences (Coleoptera, Carabidae). Molecular biology and evolution 30 9718730
2008 In Chlamydomonas, the loss of ND5 subunit prevents the assembly of whole mitochondrial complex I and leads to the formation of a low abundant 700 kDa subcomplex. Biochimica et biophysica acta 29 18258177
1996 Phylogenetic relationships and evolution of the Japanese Carabinae ground beetles based on mitochondrial ND5 gene sequences. Journal of molecular evolution 29 8919864
2017 Mitochondrial ND5 mutation mediated elevated ROS regulates apoptotic pathway epigenetically in a P53 dependent manner for generating pro-cancerous phenotypes. Mitochondrion 28 28502718
2006 The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. Journal of medical genetics 27 16816025
1996 Parallel evolution in radiation of Ohomopterus ground beetles inferred from mitochondrial ND5 gene sequences. Journal of molecular evolution 27 8995063
2016 Impaired Cellular Bioenergetics Causes Mitochondrial Calcium Handling Defects in MT-ND5 Mutant Cybrids. PloS one 26 27110715
2005 The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. Annals of neurology 26 16240359
2009 Reduced levels of genetic variation in Aedes albopictus (Diptera: Culicidae) from Manaus, Amazonas State, Brazil, based on analysis of the mitochondrial DNA ND5 gene. Genetics and molecular research : GMR 25 19731220
1987 Three class I introns in the ND4L/ND5 transcriptional unit of Neurospora crassa mitochondria. Molecular & general genetics : MGG 24 2953954
2007 Fatal manifestation of a de novo ND5 mutation: Insights into the pathogenetic mechanisms of mtDNA ND5 gene defects. Mitochondrion 23 17317336
2019 Analysis of nad2 and nad5 enables reliable identification of genotypes G6 and G7 within the species complex Echinococcus granulosus sensu lato. Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 22 31247339
2015 Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation. Scientific reports 22 26014388
1990 DNA sequence analysis of the mitochondrial ND4L-ND5 gene complex from Podospora anserina. Duplication of the ND4L gene within its intron. Journal of molecular biology 22 2319602
2017 A missense MT-ND5 mutation in differentiated Parkinson Disease cytoplasmic hybrid induces ROS-dependent DNA Damage Response amplified by DROSHA. Scientific reports 21 28842646
2009 Phylogenetic relationships of catostomid fishes (Actinopterygii: Cypriniformes) based on mitochondrial ND4/ND5 gene sequences. Molecular phylogenetics and evolution 21 19527790
2004 Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the ND5 gene not to be pathogenic. Journal of human genetics 21 15278763
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.) 20 33475980
2019 ZmSMK9, a pentatricopeptide repeat protein, is involved in the cis-splicing of nad5, kernel development and plant architecture in maize. Plant science : an international journal of experimental plant biology 19 31521217
2013 Genetic variations of ND5 gene of mtDNA in populations of Anopheles sinensis (Diptera: Culicidae) malaria vector in China. Parasites & vectors 19 24192424
2008 A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. Neuromuscular disorders : NMD 18 18396045
2021 OsPPR939, a nad5 splicing factor, is essential for plant growth and pollen development in rice. TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik 17 33386861
2020 Two Pentatricopeptide Repeat Proteins Are Required for the Splicing of nad5 Introns in Maize. Frontiers in plant science 17 32582256
2013 Simultaneous detection and identification of four cherry viruses by two step multiplex RT-PCR with an internal control of plant nad5 mRNA. Journal of virological methods 17 23707922
2012 Nonsynonymous variants in mt-Nd2, mt-Nd4, and mt-Nd5 are linked to effects on oxidative phosphorylation and insulin sensitivity in rat conplastic strains. Physiological genomics 17 22414913
2008 Molecular phylogeny of the Erebia tyndarus (Lepidoptera, Rhopalocera, Nymphalidae, Satyrinae) species group combining CoxII and ND5 mitochondrial genes: a case study of a recent radiation. Molecular phylogenetics and evolution 17 18295512
2007 Systematic association studies of mitochondrial DNA variations in schizophrenia: focus on the ND5 gene. Schizophrenia bulletin 15 17898419
2000 Formation of the Japanese Carabina fauna inferred from a phylogenetic tree of mitochondrial ND5 gene sequences (Coleoptera, carabidae). Journal of molecular evolution 14 10835484
2021 Echinococcus granulosus sensu stricto G1 is the predominant genotype in human and livestock isolates from Turkey and Iran, based on mitochondrial nad5 gene differentiation. Parasites & vectors 13 34284817
2004 A population genetic comparison of argali sheep (Ovis ammon) in Mongolia using the ND5 gene of mitochondrial DNA; implications for conservation. Molecular ecology 13 15078469
1992 Transcripts of the mitochondrial gene ND5 are overexpressed in highly metastatic murine large cell lymphoma cells. In vivo (Athens, Greece) 13 1381622
2022 Genetic structure and phylogeography of Echinococcus granulosus sensu stricto genotypes G1 and G3 in Pakistan and other regions of the world based on nad5 gene. Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 12 35092843
1992 Mitochondrial DNA sequence analysis of the cytochrome oxidase subunit I and II genes, the ATPase9 gene, the NADH dehydrogenase ND4L and ND5 gene complex, and the glutaminyl, methionyl and arginyl tRNA genes from Trichophyton rubrum. Current genetics 11 1326416
1990 The mitochondrial nad5 gene of sugar beet (Beta vulgaris) encoding a subunit of the respiratory NADH dehydrogenase. Current genetics 11 2225143
2024 DAP3 promotes mitochondrial activity and tumour progression in hepatocellular carcinoma by regulating MT-ND5 expression. Cell death & disease 10 39080251
2023 Two-Fold ND5 Genes, Three-Fold Control Regions, lncRNA, and the "Missing" ATP8 Found in the Mitogenomes of Polypedates megacephalus (Rhacophridae: Polypedates). Animals : an open access journal from MDPI 10 37760257
2021 Nano-CuO causes cell damage through activation of dose-dependent autophagy and mitochondrial lncCyt b-AS/ND5-AS/ND6-AS in SH-SY5Y cells. Toxicology mechanisms and methods 10 34353230
2019 Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing. Journal of pediatric genetics 9 31687263
2016 Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5. Ophthalmic genetics 9 26894521
2012 Mitochondrial ND5 12338T>C variant is associated with maternally inherited hypertrophic cardiomyopathy in a Chinese pedigree. Gene 9 22759514
2008 Novel SNPs of the mtDNA ND5 gene and their associations with several growth traits in the Nanyang cattle breed. Biochemical genetics 9 18231850
2007 Association of MT-ND5 gene variation with mitochondrial respiratory control ratio and NADH dehydrogenase activity in Tibet chicken embryos. Animal genetics 9 17614984
2021 Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON). Frontiers in neurology 8 33841319
2010 Nucleotide diversity of a ND5 fragment confirms that population expansion is the most suitable explanation for the mtDNA haplotype polymorphism of Drosophila subobscura. Genetica 8 20559686
2006 Divergent RNA editing frequencies in hornwort mitochondrial nad5 sequences. Gene 8 16376027
2001 Sympatric convergence of the color pattern in the Chilean Ceroglossus ground beetles inferred from sequence comparisons of the mitochondrial ND5 gene. Journal of molecular evolution 8 11675613
2019 A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues. Mitochondrion 7 31639449
2019 The fungal mitochondrial Nad5 pan-genic intron landscape. Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis 7 31698975
2015 Clinical and Neuroimaging Features in Two Children with Mutations in the Mitochondrial ND5 Gene. Neuropediatrics 7 25974876
2014 Use of COI, CytB and ND5 genes for intra- and inter-specific differentiation of Haematobia irritans and Haematobia exigua. Veterinary parasitology 7 24912955
2010 Organelle-specific expression of subunit ND5 of human complex I (NADH dehydrogenase) alters cation homeostasis in Saccharomyces cerevisiae. FEMS yeast research 7 20528953
2004 Phylogeny and evolution of Digitulati ground beetles (Coleoptera, Carabidae) inferred from mitochondrial ND5 gene sequences. Molecular phylogenetics and evolution 7 15022766
1994 Expression of a retinoic Acid-inducible mitochondrial nd5 gene is regulated by cell-density in bovine papillomavirus DNA-transformed mouse c127 cells but not in revertant cells. International journal of oncology 7 21559589
1994 The mitochondrial genome of yeast Hansenula wingei encodes NADH dehydrogenase subunit genes ND4L and ND5. Molecular & general genetics : MGG 7 8202091
1993 Cotranscriptional expression of mitochondrial genes for subunits of NADH dehydrogenase, nad5, nad4, nad2, in Marchantia polymorpha. Molecular & general genetics : MGG 7 8483448
2023 Revealing novel cytb and nad5 genes-based population diversity and benzimidazole resistance in Echinococcus granulosus of bovine origin. Frontiers in veterinary science 6 37396990

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