Affinage

NDUFS1

NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial · UniProt P28331

Length
727 aa
Mass
79.5 kDa
Annotated
2026-06-10
41 papers in source corpus 24 papers cited in narrative 24 extracted findings
Cross-family judge vs UniProt: tie faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

NDUFS1 encodes the 75-kDa iron-sulfur subunit that forms the catalytic core of the N-module of mitochondrial respiratory complex I, where it coordinates iron-sulfur clusters that relay electrons from NADH toward ubiquinone (PMID:11349233, PMID:31557978). Pathogenic point mutations, deletions, and single-residue substitutions reduce complex I amount and NADH-ubiquinone oxidoreductase activity and disrupt assembly and stability of the entire N-module, causing isolated complex I deficiency in humans; many disease residues map to subunit interfaces and to the electron-transfer path between two internal Fe-S clusters, and loss of activity drives accumulation of mitochondrial superoxide and H2O2, membrane-potential collapse, and glutathione depletion (PMID:11349233, PMID:16478720, PMID:20382551, PMID:31557978, PMID:36462614). Because NDUFS1 is nuclear-encoded, its function depends on import into mitochondria: AKAP1 binds NDUFS1 and is required for its cytosol-to-mitochondria translocation, whereas MDM2 directly binds the protein and sequesters it in the cytoplasm, destabilizing complex I and respiratory supercomplexes and committing cells to mitochondrial apoptosis in a p53-independent manner (PMID:30879903, PMID:32072193). NDUFS1 abundance and activity are further tuned post-translationally and through protein and RNA partners: glutathionylation increases ROS via reverse electron transfer (PMID:36290766), SIRT3-dependent deacetylation dissociates complex I from the membrane (PMID:40493314), K170 lactylation modulates mitochondrial function in ischemic myocardium (PMID:42134300), RNF43 ubiquitinates it for proteasomal degradation (PMID:38988031), PHB2 stabilizes the NDUFS1-NDUFV1 interface to enhance OXPHOS (PMID:36658121), and PCBP2 binds and stabilizes NDUFS1 mRNA (PMID:40784311). During apoptosis, caspase-3 cleaves NDUFS1 (at D255) to amplify mitochondrial ROS, which in turn triggers lysosomal membrane permeabilization and ER oxidative stress feedback (PMID:23788428, PMID:41422996). Through these mechanisms NDUFS1 acts as a node controlling oxidative phosphorylation, ROS output, and downstream signaling — including HIF1α, NRF2, and ferroptosis-related pathways — in cardiac, epithelial, and cancer contexts (PMID:33763166, PMID:37644092, PMID:40784311, PMID:40860777, PMID:41930324).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 2001 Medium

    Established NDUFS1 as a nuclear-encoded structural subunit whose mutation directly causes a respiratory chain disease, answering whether the gene is required for complex I function in humans.

    Evidence dHPLC and cDNA sequencing of patient fibroblasts plus respiratory chain enzyme assays

    PMID:11349233

    Open questions at the time
    • Did not resolve how individual mutations affect the electron-transfer path
    • No assembly-stage analysis
  2. 2006 High

    Showed the Fe-S NDUFS1 subunit specifically governs both electron transfer and ROS generation, distinguishing it from other complex I subunits whose loss does not raise ROS.

    Evidence Biochemical activity, ROS, membrane-potential and glutathione assays in Q522K patient fibroblasts with cAMP rescue

    PMID:16478720

    Open questions at the time
    • Single mutation in one patient line
    • Mechanism of ROS amplification not at residue resolution
  3. 2010 Medium

    Demonstrated that NDUFS1 mutations disturb complex I assembly, not just steady-state activity, defining the subunit as required for complex assembly and stability.

    Evidence Gene sequencing, activity assays and Blue Native PAGE assembly analysis in three patients

    PMID:20382551

    Open questions at the time
    • Assembly intermediates not structurally mapped
    • Single lab
  4. 2011 Medium

    Provided cross-species confirmation that NDUFS1 is functionally conserved and essential, addressing whether human findings reflect a core conserved role.

    Evidence Muscle enzymology, Neurospora crassa insertional mutant, and galactose-stressed patient fibroblasts

    PMID:21203893

    Open questions at the time
    • Single homozygous mutation
    • No direct biochemical Fe-S cluster measurement
  5. 2013 High

    Defined a non-respiratory role: caspase-3 cleavage of NDUFS1 during apoptosis amplifies ROS and triggers lysosomal membrane permeabilization, placing the subunit in an apoptotic feed-forward circuit.

    Evidence Bax/Bak, Apaf-1, caspase-9, caspase-3/7 KO epistasis, caspase-non-cleavable mutant, and MitoQ rescue

    PMID:23788428

    Open questions at the time
    • Exact cleavage residue not defined here
    • Generality across apoptotic stimuli untested
  6. 2019 High

    Identified MDM2 as a direct cytoplasmic sequestering partner that blocks NDUFS1 mitochondrial import to suppress respiration and promote apoptosis independently of p53.

    Evidence Co-IP/pull-down with N-terminal (aa 1-101) domain mapping, BN-PAGE supercomplex analysis, and Drosophila/mouse Mdm2 models

    PMID:30879903

    Open questions at the time
    • How MDM2 selects NDUFS1 over other import cargo unclear
    • No structure of the MDM2-NDUFS1 interface
  7. 2019 Medium

    Linked NDUFS1 mutations to destabilization of the whole N-module and disrupted inter-cluster electron transfer, connecting genotype to metabolic reprogramming.

    Evidence Proteome/metabolome profiling of patient cells with structural inference from Fe-S cluster positions

    PMID:31557978

    Open questions at the time
    • Electron-transfer disruption inferred, not directly measured
    • Single lab
  8. 2020 High

    Established AKAP1 as a factor required for NDUFS1 import into mitochondria, defining a positive regulator of its localization opposite to MDM2.

    Evidence Reciprocal Co-IP/LC-MS/MS, Akap1-KO diabetic mice, AAV9-Akap1 cardiac rescue and fractionation

    PMID:32072193

    Open questions at the time
    • Whether AKAP1 acts at the import machinery directly is unresolved
    • Interaction interface not mapped
  9. 2021 Medium

    Showed NDUFS1 level controls cardiomyocyte mitochondrial mass, mtDNA content and membrane potential, linking the subunit to hypertrophy phenotypes.

    Evidence siRNA knockdown and overexpression in rat cardiomyocytes with Ang II hypertrophy model

    PMID:33763166

    Open questions at the time
    • Mechanism connecting NDUFS1 to mtDNA content unclear
    • Single lab, rodent cells
  10. 2022 Medium

    Defined several regulators of NDUFS1: PHB2 stabilizes the NDUFS1-NDUFV1 interface to boost OXPHOS, glutathionylation drives reverse-electron-transfer ROS, and ortholog mutagenesis mapped activity/assembly to subunit interfaces.

    Evidence Co-IP/MS and complex I assays (PHB2), immunocaptured complex I with reversible glutathionylation, and E. coli nuoG site-directed mutagenesis

    PMID:36290766 PMID:36462614 PMID:36658121

    Open questions at the time
    • Glutathionylation site on NDUFS1 not pinpointed
    • PHB2 effect shown in one cancer context
  11. 2023 Medium

    Connected NDUFS1 loss to mitochondrial ROS-HIF1α-FBLN5 signaling that promotes gastric cancer progression, framing NDUFS1 as a tumor suppressor in this context.

    Evidence Loss/gain-of-function with xenografts, localization imaging and pathway component blots/IHC

    PMID:37644092

    Open questions at the time
    • Direct HIF1α induction kinetics not resolved
    • Single lab
  12. 2024 Medium

    Showed NDUFS1 degradation routes converge on ROS and downstream cell-fate outcomes: caspase-3-driven degradation arrests autophagy in liver cancer, and RNF43-mediated ubiquitination lowers OXPHOS in endometrial stroma.

    Evidence NDUFS1 overexpression rescue with caspase-3 dissection (agrimol B), and Co-IP plus ubiquitination assay (RNF43)

    PMID:38697493 PMID:38988031

    Open questions at the time
    • RNF43 ubiquitination site on NDUFS1 not mapped
    • Pathway specificity across tissues unclear
  13. 2025 Medium

    Expanded the post-translational and transcriptional control of NDUFS1: SIRT3 deacetylation dissociates complex I from the membrane, PCBP2 stabilizes NDUFS1 mRNA to engage NRF2 anti-ferroptosis signaling, caspase-3 cleaves at D255, and the protein's NAD+ output controls ENaCα in alveolar clearance.

    Evidence SIRT3 activation/acetylation IP and BN-PAGE; RIP and pull-down with MI rescue; D255A cleavage-site mutant; knockdown with Olaparib NAD+ rescue

    PMID:40493314 PMID:40784311 PMID:40860777 PMID:41422996

    Open questions at the time
    • Interplay among deacetylation, lactylation and glutathionylation untested
    • ENaCα link is downstream/correlative
  14. 2026 Medium

    Refined regulation by import and modification: GL-V9 acts as a molecular glue strengthening MDM2-NDUFS1 cytoplasmic sequestration to trigger the OMA1-DELE1 stress response, K170 lactylation modulates ischemic myocardial injury, and CD147-pSTAT3 transcription of NDUFS1 sustains pancreatic cancer stem-cell metaboloepigenetics.

    Evidence SPR/CETSA/GST pull-down with MDM2 mutagenesis (GL-V9); K170 lactylation mutant in MI/RI model; CSC sorting, ChIP and SIRT1-DNMT1-PAX2 pathway analysis

    PMID:41930324 PMID:41951044 PMID:42134300

    Open questions at the time
    • Lactylation enzyme/eraser not identified
    • How complex I activity drives nuclear epigenetic signaling mechanistically unresolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • How the competing import, modification, and degradation inputs (AKAP1, MDM2, SIRT3, glutathionylation, lactylation, RNF43, caspase-3) are integrated to set NDUFS1 abundance and complex I output in a given cell type remains unresolved.
  • No unified model of competing localization/PTM control
  • No high-resolution structure of human NDUFS1 within the N-module
  • Stoichiometry and timing of modifications uncharacterized

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0016491 oxidoreductase activity 3
Localization
GO:0005739 mitochondrion 3 GO:0005829 cytosol 3
Pathway
R-HSA-1430728 Metabolism 4 R-HSA-5357801 Programmed Cell Death 3 R-HSA-8953897 Cellular responses to stimuli 3
Partners
AKAP1MDM2NDUFV1PCBP2PHB2RNF43
Complex memberships
Mitochondrial respiratory complex I (N-module)

Evidence

Reading pass · 24 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2001 Point mutations and large-scale deletions in the NDUFS1 gene (encoding the 75-kDa Fe-S subunit of mitochondrial complex I) cause isolated complex I deficiency in humans, establishing NDUFS1 as a nuclear-encoded structural subunit required for complex I activity. Denaturing HPLC and direct cDNA sequencing of NDUFS1 in patient fibroblasts; biochemical respiratory chain enzyme assays American journal of human genetics Medium 11349233
2006 A C1564A missense mutation (Q522K) in NDUFS1 reduces the level of mature complex I, markedly inhibits NADH-ubiquinone oxidoreductase activity, causes accumulation of mitochondrial H2O2 and superoxide, decreases mitochondrial potential, and leads to glutathione depletion; ROS increase was not observed in the NDUFS4 mutant, demonstrating a specific role for the Fe-S NDUFS1 subunit in electron transfer and ROS generation. Biochemical assays in patient fibroblasts: complex I activity measurement, ROS detection (H2O2, O2•−), mitochondrial membrane potential measurement, glutathione quantification, glutathione peroxidase activity assay; dibutyryl-cAMP rescue experiment The Journal of biological chemistry High 16478720
2010 Novel NDUFS1 mutations (including a premature stop, amino acid substitutions, and a single-amino-acid deletion) cause decreased complex I amount and activity and a disturbed complex I assembly pattern in patient fibroblasts, establishing NDUFS1 as required for proper assembly and stability of mitochondrial complex I. NDUFS1 gene sequencing in patient fibroblasts; complex I activity assay; Blue Native PAGE assembly analysis Molecular genetics and metabolism Medium 20382551
2011 A homozygous p.Thr595Ala mutation in NDUFS1 causes severe reduction of complex I enzyme activity in muscle and complex I dysfunction in a Neurospora crassa insertional mutagenesis model and in patient fibroblasts grown in galactose, providing cross-species genetic evidence that NDUFS1 is functionally conserved and essential for complex I activity. Muscle biopsy complex I enzyme activity assay; Neurospora crassa insertional mutagenesis model; patient fibroblasts grown in galactose (stress condition to unmask OXPHOS defect) Neurogenetics Medium 21203893
2013 Caspase-3 cleaves the p75 NDUFS1 subunit of respiratory complex I downstream of MOMP during TNFα+cycloheximide-induced apoptosis; this cleavage drives ROS formation, which then triggers lysosomal membrane permeability (LMP) and cathepsin release, amplifying apoptosis. A caspase-non-cleavable p75 mutant prevented LMP, confirming the NDUFS1 cleavage event as mechanistically causal. Genetic epistasis with Bax/Bak, Apaf-1, caspase-9, caspase-3/7 double-knockout cells; caspase-non-cleavable NDUFS1 mutant expression; MitoQ antioxidant rescue; LMP and cathepsin release assays; ROS measurement Journal of cell science High 23788428
2019 MDM2 directly binds NDUFS1 via its amino-terminal region (aa 1–101), sequesters it in the cytoplasm, prevents its mitochondrial localization, and thereby destabilizes complex I and respiratory supercomplexes, leading to decreased mitochondrial respiration, oxidative stress, and commitment to the mitochondrial apoptosis pathway in a p53-independent manner. Complementary biochemical (Co-IP, pull-down), organellar fractionation, and cellular approaches; MDM2 amino-terminal truncation mapping; supercomplex analysis by BN-PAGE; Drosophila and murine transgenic Mdm2 models; oxygen consumption rate assays Molecular cell High 30879903
2019 Biallelic NDUFS1 mutations decrease the stability of the entire N-module of complex I and disrupt electron transfer between two iron-sulfur clusters within NDUFS1, causing metabolic reprogramming including TCA cycle inhibitory feedback and elevated reactive oxygen species stress. Proteome and metabolome profiling of patient-derived cells; structural inference from iron-sulfur cluster positions; comparison with a second CI gene mutation Cells Medium 31557978
2020 AKAP1 interacts with NDUFS1 (identified by immunoprecipitation and mass spectrometry) and is required for translocation of NDUFS1 from the cytosol to mitochondria; AKAP1 deficiency prevents this translocation, inhibits complex I activity, reduces ATP production, increases mitochondrial ROS, and exacerbates cardiomyocyte apoptosis. Restoration of AKAP1 rescues mitochondrial NDUFS1 localization and cardiac function. Co-immunoprecipitation and LC-MS/MS; Akap1-KO mice with STZ-induced diabetes; AAV9-Akap1 cardiac overexpression rescue; echocardiography; complex I activity assay; ROS measurement; subcellular fractionation Diabetologia High 32072193
2021 NDUFS1 knockdown in cardiomyocytes decreases mitochondrial DNA content, mitochondrial membrane potential, and mitochondrial mass while increasing mitochondrial ROS production; Ndufs1 overexpression reverses Ang II-induced cardiomyocyte hypertrophy phenotypes, establishing a direct role for NDUFS1 in maintaining mitochondrial membrane potential in cardiomyocytes. siRNA knockdown and overexpression of Ndufs1 in rat cardiomyocytes; Ang II hypertrophy model; MMP measurement (JC-1), mtDNA content, mitochondrial mass, and ROS assays Oxidative medicine and cellular longevity Medium 33763166
2022 PHB2 directly interacts with NDUFS1 (identified by Co-IP and mass spectrometry) and co-localizes with it in mitochondria; this interaction facilitates NDUFS1 binding to NDUFV1, stabilizes complex I, and enhances complex I activity, thereby elevating oxidative phosphorylation levels in colorectal cancer cells. Co-immunoprecipitation and mass spectrometry; confocal co-localization; complex I activity assay after PHB2 knockdown or overexpression; PHB2 KD combined with PHB2 OE rescue Cell death & disease Medium 36658121
2022 Glutathionylation of NDUFS1 within complex I (induced by disulfiram) increases mitochondrial superoxide/H2O2 production during reverse electron transfer from the ubiquinone pool via substrates glycerol-3-phosphate and proline; deglutathionylation of NDUFS1 by reducing agents restores normal complex I activity and decreases ROS production. Immunocapture of complex I from liver mitochondria; disulfiram-induced glutathionylation; site-specific inhibitors for complex I, III, GPD, PRODH; ROS measurement; reducing-agent reversal of glutathionylation Antioxidants (Basel, Switzerland) Medium 36290766
2022 Mutations at NDUFS1-corresponding positions in the homologous E. coli nuoG subunit reduce NADH oxidase activity and disrupt complex I assembly (assessed by co-immunoprecipitation and time-delayed expression assays), and many map to subunit interfaces; compound heterozygote modeling identified which mutation in a pair is more deleterious. Site-directed mutagenesis in E. coli nuoG (NDUFS1 ortholog); membrane vesicle NADH oxidase activity assay; co-immunoprecipitation assembly assay; time-delayed expression assay; alanine substitution series Mitochondrion Medium 36462614
2023 Reduction of NDUFS1 in gastric cancer cells activates the mitochondrial ROS–HIF1α signaling pathway, upregulating FBLN5 (a transcriptional target of HIF1α), thereby promoting cancer cell proliferation, migration, and invasion; NDUFS1 overexpression suppresses this pathway and inhibits tumor growth in vivo. Confocal microscopy for NDUFS1 subcellular localization and mROS measurement; CCK-8, colony formation, transwell assays; mouse xenograft model; western blot and IHC for pathway components British journal of cancer Medium 37644092
2024 Agrimol B causes caspase-3-mediated degradation of NDUFS1 protein, leading to mitochondrial ROS accumulation, autophagosome-lysosome fusion blockade (autophagy arrest), and HCC cell growth inhibition; NDUFS1 overexpression partially restores mitochondrial ROS levels and reverses autophagy arrest induced by agrimol B. NDUFS1 overexpression rescue experiment; caspase-3 activity assay; mROS measurement; autophagosome accumulation assay; in vitro and PDX in vivo models Free radical biology & medicine Medium 38697493
2024 RNF43 (an E3 ubiquitin ligase) directly interacts with NDUFS1 and promotes its ubiquitination and proteasomal degradation, reducing oxidative phosphorylation activity; NDUFS1 is thus a downstream target of RNF43 in endometrial stromal cells. Co-immunoprecipitation demonstrating RNF43–NDUFS1 interaction; ubiquitination assay; NDUFS1 knockdown phenocopy of RNF43 overexpression; OXPHOS activity measurement Journal of cellular physiology Medium 38988031
2025 Berberine directly binds and activates SIRT3, which deacetylates NDUFS1 (the catalytic subunit in the N-module of complex I), causing dissociation of complex I from the mitochondrial membrane; this selectively and reversibly reduces complex I abundance and OXPHOS activity in hepatocytes, improving glucose and lipid metabolism. In vivo oral administration followed by mitochondrial isolation; SIRT3 activation assay; acetylation state of NDUFS1 measured by IP; complex I dissociation by BN-PAGE; oxygen consumption rate; glucose/lipid metabolic readouts Science China. Life sciences Medium 40493314
2025 PCBP2 binds NDUFS1 mRNA (verified by RNA-immunoprecipitation and RNA-protein pull-down), stabilizes it, and promotes NDUFS1 protein expression; increased NDUFS1 in turn activates NRF2 nuclear translocation, inhibiting cardiomyocyte ferroptosis during myocardial infarction. RNA-immunoprecipitation (RIP); RNA-protein pull-down; NDUFS1 overexpression and PCBP2 overexpression experiments; NRF2 nuclear translocation assay; ferroptosis markers; in vivo MI mouse model with LV-PCBP2/LV-NDUFS1 Molecular immunology Medium 40784311
2025 Caspase-3 cleaves NDUFS1 at residue D255; mutation D255A abolishes this cleavage and attenuates ROS accumulation and mitochondrial dysfunction induced by trichothecene mycotoxins, confirming that caspase-3-mediated NDUFS1 cleavage disrupts electron transport and amplifies mitochondrial ROS in a positive feedback loop with ERO1α-mediated ER oxidative stress. In vivo and in vitro mycotoxin exposure models; caspase-3 inhibition and siRNA knockdown; NDUFS1 D255A cleavage-site mutant expression; ROS measurement; mitochondrial function assays Free radical biology & medicine High 41422996
2025 NDUFS1 deficiency in alveolar epithelial cells reduces complex I activity, impairs NAD+ production, and increases ROS, which in turn decreases ENaCα expression and impairs alveolar fluid clearance; supplementing NAD+ via Olaparib restores ENaCα levels and alleviates acute lung injury phenotypes caused by NDUFS1 deficiency. NDUFS1 knockdown in alveolar epithelial cells; complex I activity assay; NAD+ measurement; ROS assay; ENaCα expression; Olaparib-mediated NAD+ supplementation rescue; ALI mouse models International journal of medical sciences Medium 40860777
2025 Naringin facilitates translocation of NDUFS1 from the cytosol to mitochondria in cardiac microvascular endothelial cells during hypoxia-reoxygenation injury; this mitochondrial import of NDUFS1 restores mitochondrial function, reduces ROS, and suppresses ferroptosis via the IRF3/SLC7A11/GPX4 axis. Immunofluorescence and subcellular fractionation to track NDUFS1 localization; proteomic analysis; molecular docking and molecular dynamics; ferroptosis marker assays; in vivo MI/RI rat model The Journal of nutritional biochemistry Low 40617306
2026 GL-V9 binds the MDM2 amino-terminal domain (aa 1–101) and acts as a molecular glue that facilitates MDM2–NDUFS1 interaction in the cytoplasm, preventing NDUFS1 mitochondrial localization, inhibiting complex I formation, disrupting mitochondrial homeostasis, and activating the OMA1-DELE1 integrated stress response to induce apoptosis, in a p53-independent manner. GST pull-down assay; cellular thermal shift assay (CETSA); surface plasmon resonance (SPR); immunofluorescence for NDUFS1 mitochondrial localization; MDM2 amino acid mutation mapping; mitochondrial membrane potential, superoxide, ATP, OCR assays; OMA1-DELE1 pathway readout Journal of advanced research High 41951044
2026 NDUFS1-mediated complex I activity maintains pancreatic cancer stem cell stemness and tumorigenicity; mechanistically, CD147 promotes pSTAT3Tyr705-mediated NDUFS1 transcription, and NDUFS1 initiates SIRT1-DNMT1 metaboloepigenetic signaling that reduces PAX2 promoter methylation, increasing PAX2 expression to sustain stemness. ALDH+ CSC sorting and tumorsphere assay; complex I activity assays; NDUFS1 KD/OE; ChIP for PAX2 promoter methylation; DNMT1/SIRT1 pathway analysis; CD147 overexpression; in vivo tumorigenicity assays MedComm Medium 41930324
2026 NDUFS1 K170 lactylation (induced during ischemia-reperfusion) impairs the cardioprotective effects of PG; overexpression of NDUFS1 K170 lactylation diminished PG-mediated improvement of MIRI, establishing a specific lysine lactylation site on NDUFS1 as a post-translational modification that modulates mitochondrial function and ferroptosis in myocardial injury. Multi-omics (metabolomics, proteomics); overexpression of NDUFS1 K170 lactylation mutant; PDK4 overexpression; in vivo rat MI/RI model; GPX4, ACSL4, PDK4 pathway readouts Redox biology Medium 42134300
2025 ATF3, upregulated downstream of the ER stress PERK-eIF2α-ATF4 pathway by sorafenib, negatively regulates NDUFS1 expression; siRNA silencing of ATF3 partially restores mitochondrial function impaired by sorafenib, defining an ATF3→NDUFS1 regulatory axis in sorafenib-induced cardiotoxicity. Transcriptomic and proteomic profiling; ATF3 siRNA knockdown; Western blot validation; mitochondrial function assays; ER stress inhibitor (GSK2606414) rescue; H9C2 cell model and in vivo rat model Frontiers in pharmacology Low 40880646

Source papers

Stage 0 corpus · 41 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2001 Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. American journal of human genetics 218 11349233
2006 Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I. The Journal of biological chemistry 127 16478720
2020 Akap1 deficiency exacerbates diabetic cardiomyopathy in mice by NDUFS1-mediated mitochondrial dysfunction and apoptosis. Diabetologia 95 32072193
2022 Cardiac-specific overexpression of Ndufs1 ameliorates cardiac dysfunction after myocardial infarction by alleviating mitochondrial dysfunction and apoptosis. Experimental & molecular medicine 79 35817848
2023 PHB2 promotes colorectal cancer cell proliferation and tumorigenesis through NDUFS1-mediated oxidative phosphorylation. Cell death & disease 67 36658121
2019 MDM2 Integrates Cellular Respiration and Apoptotic Signaling through NDUFS1 and the Mitochondrial Network. Molecular cell 66 30879903
2005 Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. Archives of neurology 64 15824269
2010 Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies. Molecular genetics and metabolism 55 20382551
2019 Mutations in NDUFS1 Cause Metabolic Reprogramming and Disruption of the Electron Transfer. Cells 53 31557978
2011 Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1. Neurogenetics 41 21203893
2013 TNFα-induced lysosomal membrane permeability is downstream of MOMP and triggered by caspase-mediated NDUFS1 cleavage and ROS formation. Journal of cell science 40 23788428
2021 Ndufs1 Deficiency Aggravates the Mitochondrial Membrane Potential Dysfunction in Pressure Overload-Induced Myocardial Hypertrophy. Oxidative medicine and cellular longevity 36 33763166
2016 Systematic Expression Analysis of Mitochondrial Complex I Identifies NDUFS1 as a Biomarker in Clear-Cell Renal-Cell Carcinoma. Clinical genitourinary cancer 32 28063846
2015 Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1. Mitochondrion 31 25615419
2014 Genetic variant in NDUFS1 gene is associated with schizophrenia and negative symptoms in Han Chinese. Journal of human genetics 21 25354934
2023 Loss of NDUFS1 promotes gastric cancer progression by activating the mitochondrial ROS-HIF1α-FBLN5 signaling pathway. British journal of cancer 19 37644092
2021 MiR-3130-5p is an intermediate modulator of 2q33 and influences the invasiveness of lung adenocarcinoma by targeting NDUFS1. Cancer medicine 15 33978320
2014 A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy. Neurogenetics 14 24952175
2024 Targeted degradation of NDUFS1 by agrimol B promotes mitochondrial ROS accumulation and cytotoxic autophagy arrest in hepatocellular carcinoma. Free radical biology & medicine 13 38697493
2022 Conditions Conducive to the Glutathionylation of Complex I Subunit NDUFS1 Augment ROS Production following the Oxidation of Ubiquinone Linked Substrates, Glycerol-3-Phosphate and Proline. Antioxidants (Basel, Switzerland) 12 36290766
2022 Down regulation of NDUFS1 is involved in the progression of parenteral-nutrition-associated liver disease by increasing Oxidative stress. The Journal of nutritional biochemistry 11 36402252
2024 m6A methylation of RNF43 inhibits the progression of endometriosis through regulating oxidative phosphorylation via NDUFS1. Journal of cellular physiology 10 38988031
2025 Berberine dissociates mitochondrial complex I by SIRT3-dependent deacetylation of NDUFS1 to improve hepatocellular glucose and lipid metabolism. Science China. Life sciences 9 40493314
2021 Proteomic Analysis Identifies NDUFS1 and ATP5O as Novel Markers for Survival Outcome in Prostate Cancer. Cancers 5 34885151
2025 Naringin attenuates myocardial ischemia-reperfusion injury by promoting mitochondrial translocation of NDUFS1 and suppressing cardiac microvascular endothelial cell ferroptosis. The Journal of nutritional biochemistry 4 40617306
2025 Mechanisms of sorafenib-induced cardiotoxicity: ER stress induces upregulation of ATF3, leading to downregulation of NDUFS1 expression and mitochondrial dysfunction. Frontiers in pharmacology 4 40880646
2022 Analysis of compound heterozygous and homozygous mutations found in peripheral subunits of human respiratory Complex I, NDUFS1, NDUFS2, NDUFS8 and NDUFV1, by modeling in the E. coli enzyme. Mitochondrion 4 36462614
2024 Association between NDUFS1 from urinary extracellular vesicles and decreased differential renal function in children with ureteropelvic junction obstruction. BMC nephrology 2 38720274
2022 Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report. Medicine 2 36042640
2025 PCBP2 alleviates myocardial infarction by inhibiting cardiomyocyte ferroptosis via the NDUFS1/NRF2 pathway. Molecular immunology 1 40784311
2025 NDUFS1 upregulates ENaCα by NAD+ to promote alveolar fluid clearance in acute lung injury. International journal of medical sciences 1 40860777
2025 ER-localized ERO1α and caspase-3-mediated cleavage of mitochondrial NDUFS1 drives trichothecene-induced ROS accumulation in liver. Free radical biology & medicine 1 41422996
2022 Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 gene. Stem cell research 1 36403546
2021 [Compound heterozygous NDUFS1 variants identified in a Chinese pedigree affected with mitochondrial respiratory chain complex I deficiency]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 1 33751534
2026 Role of NDUFS1 in mitochondrial dysfunction and oxidative stress in glaucomatous retinal ganglion cells. Experimental eye research 0 41672192
2026 NDUFS1-Mediated Mitochondrial Complex I Activity Maintains Pancreatic Cancer Stemness by Promoting PAX2 Hypomethylation. MedComm 0 41930324
2026 GL-V9 disrupts the mitochondrial homeostasis and triggers the integrated stress response by promoting the binding of cytosolic MDM2 with NDUFS1 in colorectal cancer. Journal of advanced research 0 41951044
2026 Generation of an iPSC line IUFi004-A-13 with homozygous NDUFS1 mutation for the study of Leigh syndrome. Stem cell research 0 42070526
2026 Piceatannol-3'-O-β-d-glucopyranoside mitigates myocardial ischemia-reperfusion injury by inhibiting ferroptosis through the regulation of NDUFS1 lactylation via metabolic reprogramming. Redox biology 0 42134300
2025 Deep learning-based radiolabelled compound-protein interaction prediction for NDUFS1-targeting radiopharmaceutical discovery. EJNMMI research 0 40794258
2022 Expression Study of NDUFS1, NDUFV1, and NDUFV2 in Schizophrenia and Paranoid Personality Disorder : Role of Mitochondrial Complex I in SCZ and PPD. Galen medical journal 0 42040813

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