Genomes and Genes
Gene Symbol: NDUFS4
Description: NADH:ubiquinone oxidoreductase subunit S4
Alias: AQDQ, CI-18, CI-18 kDa, CI-AQDQ, NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial, NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase), NADH-ubiquinone oxidoreductase 18 kDa subunit, complex I 18kDa subunit, complex I-AQDQ, mitochondrial respiratory chain complex I (18-KD subunit)
- Neuroprotective effects of pyrroloquinoline quinone against rotenone injury in primary cultured midbrain neurons and in a rat model of Parkinson's diseaseQi Zhang
Jiangsu Key Laboratory of Neuroregeneration, Co innovation Center of Neuroregeneration, Nantong University, 19 Qixiu Road, Nantong, JS 226001, PR China
Neuropharmacology 108:238-51. 2016..Silencing of Ndufs1 or Ndufs4 in cultured SH-SY5Y cells or midbrain neurons reduced the neuroprotective effects of PQQ...
- MicroRNAs Regulate Cellular ATP Levels by Targeting Mitochondrial Energy Metabolism Genes during C2C12 Myoblast DifferentiationPuntita Siengdee
Research Institute for the Biology of Farm Animals FBN, Research Unit Functional Genomics, Dummerstorf, Germany
PLoS ONE 10:e0127850. 2015..as cellular ATP regulators targeting genes involved in mitochondrial energy metabolism (Cox4i2, Cox6a2, Ndufb7, Ndufs4, Ndufs5, and Ndufv1) during C2C12 differentiation...
- Genetic reduction of mitochondrial complex I function does not lead to loss of dopamine neurons in vivoHyung Wook Kim
Toxicology Program in the Department of Environmental and Occupational Health Sciences, University of Washington, Seattle, WA, USA College of Life Sciences, Sejong University, Seoul, Korea
Neurobiol Aging 36:2617-27. 2015..However, loss of complex I activity by systemic deletion of the Ndufs4 gene, one of the subunits comprising complex I, does not cause dopaminergic neuron death in culture...
- Mitochondrial complex I defects increase ubiquitin in substantia nigraLanying Song
Department of Molecular Biosciences, University of California, Davis, CA 95616, USA
Brain Res 1594:82-91. 2015..Using Ndufs4 mouse model of mitochondrial complex I deficiency, we observed a remarkable ubiquitin protein increase in SN of ..
- Complex I deficiency due to selective loss of Ndufs4 in the mouse heart results in severe hypertrophic cardiomyopathyEdward T Chouchani
Department of Medicine, University of Cambridge, Cambridge, United Kingdom MRC Mitochondrial Biology Unit, Cambridge, United Kingdom
PLoS ONE 9:e94157. 2014..dysfunction we used an established mouse model of mild and chronic complex I inhibition through heart-specific Ndufs4 gene ablation...
- Combined LRRK2 mutation, aging and chronic low dose oral rotenone as a model of Parkinson's diseaseHui Fang Liu
Division of Neurology, Department of Medicine, University of Hong Kong, Hong Kong
Sci Rep 7:40887. 2017..The increased locomotor deficit was associated with specific reduction in striatal mitochondrial Complex-I (NDUFS4) in rotenone-treated mutant but not in similarly treated wild-type mice...
- Altered anesthetic sensitivity of mice lacking Ndufs4, a subunit of mitochondrial complex IAlbert Quintana
Howard Hughes Medical Institute and Department of Biochemistry, University of Washington, Seattle, Washington, United States of America
PLoS ONE 7:e42904. 2012..Here, we tested a knockout (KO) mouse with reduced complex I function due to inactivation of the Ndufs4 gene, which encodes one of the subunits of complex I...
- Primary fibroblasts of NDUFS4(-/-) mice display increased ROS levels and aberrant mitochondrial morphologyFederica Valsecchi
Department of Biochemistry, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands
Mitochondrion 13:436-43. 2013The human NDUFS4 gene encodes an accessory subunit of the first mitochondrial oxidative phosphorylation complex (CI) and, when mutated, is associated with progressive neurological disorders...
- Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunitMegan E Breuer
Department of Biochemistry, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands
IUBMB Life 65:202-8. 2013..various cellular and animal models of CI deficiency have been presented involving mutations and/or deletion of the Ndufs4 gene, which encodes the NDUFS4 subunit of CI...
- PARP inhibition delays progression of mitochondrial encephalopathy in miceRoberta Felici
Department of Health Sciences, Section of Clinical Pharmacology and Oncology, University of Florence, Viale Pieraccini 6, Florence, 50139, Italy
Neurotherapeutics 11:651-64. 2014..We used mice lacking the Ndufs4 subunit of the respiratory complex I (Ndufs4 knockout [ KO] mice); these mice undergo progressive encephalopathy ..
- Isoflurane anesthetic hypersensitivity and progressive respiratory depression in a mouse model with isolated mitochondrial complex I deficiencySuzanne Roelofs
Department of Anesthesiology, Radboud University Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
J Anesth 28:807-14. 2014..We examined anesthetic sensitivity to and respiratory effects of isoflurane in the Ndufs4 knockout (KO) mouse model...
- Fatal breathing dysfunction in a mouse model of Leigh syndromeAlbert Quintana
Howard Hughes Medical Institute and Department of Biochemistry, University of Washington, Seattle, WA, USA
J Clin Invest 122:2359-68. 2012..Loss of murine Ndufs4, which encodes NADH dehydrogenase (ubiquinone) iron-sulfur protein 4, results in compromised activity of ..
- Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4fky/fky mouseMatthew J Bird
Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, VIC 3052, Australia
Biosci Rep 34:e00151. 2014..we assessed mitochondrial function in neurologically relevant primary cell lines from a CI (complex I) deficient Ndufs4 KO (knockout) mouse (Ndufs4fky/fky) modelling aspects of the mitochondrial disease LS (Leigh syndrome), as well as ..
- Intramitochondrial adenylyl cyclase controls the turnover of nuclear-encoded subunits and activity of mammalian complex I of the respiratory chainDomenico De Rasmo
Institute of Biomembrane and Bioenergetics, CNR, Bari 70124, Italy Electronic address
Biochim Biophys Acta 1853:183-91. 2015..matrix by soluble adenylyl cyclase (sAC) results in decreased amounts of free non-incorporated nuclear-encoded NDUFS4, NDUFV2 and NDUFA9 subunits of the catalytic moiety and inhibition of the activity of complex I...
- Mitochondrial complex I deficiency leads to inflammation and retinal ganglion cell death in the Ndufs4 mouseAlfred K Yu
Veterinary Medicine, Molecular Biosciences
Hum Mol Genet 24:2848-60. 2015..neuroanatomical and transcriptional consequences of complex I deficiency were investigated in retinas of the Ndufs4 knockout mouse...
- Skeletal muscle mitochondria of NDUFS4-/- mice display normal maximal pyruvate oxidation and ATP productionMohammad T Alam
Department of Biochemistry, RIMLS, Radboud University Medical Center, Nijmegen, The Netherlands Centre for Systems Biology and Bioenergetics, Radboud University Medical Centre, Nijmegen, The Netherlands Electronic address
Biochim Biophys Acta 1847:526-33. 2015..the energy metabolism of isolated skeletal muscle mitochondria from 5-week-old wild-type (WT) and CI-deficient NDUFS4-/- (KO) mice...
- Hydrogen peroxide induces adaptive response and differential gene expression in human embryo lung fibroblast cellsQinzhi Wei
Department of Toxicology, School of Public Health and Tropical Medicine, Southern Medical University, Guangzhou 510515, People s Republic of China Department of Toxicology, Faculty of Preventive Medicine, School of Public Health, Sun Yat Sen University, Guangzhou 510080, People s Republic of China Toxicology Laboratory, Shenzhen Center for Disease Control and Prevention, Shenzhen, 21 TianBei 1st Road, Shenzhen 518020, Guangdong Province, People s Republic of China
Environ Toxicol 29:478-85. 2014..They showed identity with known genes, such as BCL-2, eIF3S5, NDUFS4, and RPS10...
- Glutamatergic Neurotransmission Links Sensitivity to Volatile Anesthetics with Mitochondrial FunctionPavel I Zimin
Center for Developmental Therapeutics, Seattle Children s Research Institute, Seattle, WA 98101, USA Electronic address
Curr Biol 26:2194-201. 2016..However, mitochondrial defects increase VA sensitivity in diverse organisms from nematodes to humans [4-6]. Ndufs4 knockout (KO) mice lack a subunit of mitochondrial complex I and are strikingly hypersensitive to VAs yet ..
- Accessory subunit NUYM (NDUFS4) is required for stability of the electron input module and activity of mitochondrial complex IFlora Kahlhöfer
Structural Bioenergetics Group, Institute of Biochemistry II, Medical School, Goethe University Frankfurt am Main, Germany
Biochim Biophys Acta 1858:175-181. 2017..The gene for the accessory NDUFS4 subunit of human complex I is a hot spot for fatal pathogenic mutations in humans...
- Photoperiod Affects the Phenotype of Mitochondrial Complex I MutantsPierre Pétriacq
Institute of Plant Sciences Paris Saclay, Centre National de la Recherche Scientifique, Institut National de la Recherche Agronomique, Universite Paris Sud, Université Evry, Universite Paris Diderot, Université Paris Saclay, 91405 Orsay, France P P, L D B, L G, J H, G Q, A D, B P, B G, R D P
Plant Physiol 173:434-455. 2017..1 and ndufs8.2 genes encoding the NDUFS8 subunit and the previously characterized ndufs4 CI mutant. In the long day (LD) condition, both ndufs8.1 and ndufs8...
- Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 geneS M Budde
Nijmegen Centre for Mitochondrial Disorders, University Medical Centre Nijmegen, Nijmegen, The Netherlands
Biochem Biophys Res Commun 275:63-8. 2000..After our initial report we describe mutations in the NDUFS4 gene of complex I in two additional patients. The first mutation is a deletion of G at position 289 or 290...
- Bipolar cell reduction precedes retinal ganglion neuron loss in a complex 1 knockout mouse modelLanying Song
Vet Med Molecular Biosciences, University of California, Davis, Davis, CA 95616
Brain Res . 2016..We observe that complex 1 -deficient Ndufs4-/- mice present with acute vision loss around p30, and this vision loss is coincident with an 'inflammatory wave'...
- Widespread brain transcriptome alterations underlie the neuroprotective actions of dietary saffronNicholas V Skladnev
Bosch Institute, University of Sydney, Sydney, NSW, Australia
J Neurochem 139:858-871. 2016..g. adherens junction, TNFR1 and Fas signaling) and expression changes in candidate genes (Cyr61, Gpx8, Ndufs4, and Nos1ap) with known neuroprotective actions...
- A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite populationRyan E Lamont
Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada
Am J Med Genet A . 2016..393dupA frameshift mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 4 (NDUFS4) gene. The carrier frequency of this mutation was estimated in >1,300 Hutterite individuals to be 1 in 27...
- Simultaneous Analysis of Major Coenzymes of Cellular Redox Reactions and Energy Using ex Vivo (1)H NMR SpectroscopyG A Nagana Gowda
Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, United States
Anal Chem 88:4817-24. 2016..ratios/pool sizes were measured using mouse models with a cardiac-specific knockout of the mitochondrial Complex I Ndufs4 gene (cKO) and cardiac-specific overexpression of nicotinamide phosphoribosyltransferase (cNAMPT) as examples...
- First Identification of the Toxicity of Microcystins on Pancreatic Islet Function in Humans and the Involved Potential BiomarkersYanyan Zhao
State Key Laboratory of Lake Science and Environment, Nanjing Institute of Geography and Limnology, Chinese Academy of Sciences, 73 East Beijing Road, Nanjing 210008, P R China
Environ Sci Technol 50:3137-44. 2016..Furthermore, the diabetes gene pdx1 and several other proteins (such as Ppp3ca, Ide, Marcks, Pgk1, Suclg1, Ndufs4) involved in insulin secretion were identified for the first time in mice following MC-LR exposure; these ..
- Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse modelsGabriele Civiletto
Fondazione IRCCS Istituto Neurologico C Besta, Milan, Italy MRC Mitochondrial Biology Unit, Cambridge, UK
Cell Metab 21:845-54. 2015..The offspring from crosses of a constitutive knockout for the structural complex I component Ndufs4 (Ndufs4(-/-)), and of a muscle-specific conditional knockout for the complex IV assembly factor Cox15 (Cox15(sm/sm)..
- Region-Specific Defects of Respiratory Capacities in the Ndufs4(KO) Mouse BrainErnst Bernhard Kayser
Center for Developmental Therapeutics, Seattle Children s Research Institute, Seattle, Washington, United States of America
PLoS ONE 11:e0148219. 2016Lack of NDUFS4, a subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase), causes Leigh syndrome (LS), a progressive encephalomyopathy. Knocking out Ndufs4, either systemically or in brain only, elicits LS in mice...
- Constitutive Reprogramming of Fibroblast Mitochondrial Metabolism in Pulmonary HypertensionLydie Plecitá-Hlavatá
1 Department of Membrane Transport Biophysics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic
Am J Respir Cell Mol Biol 55:47-57. 2016..of the accessory subunit nicotinamide adenine dinucleotide reduced dehydrogenase (ubiquinone) Fe-S protein 4 (NDUFS4)...
- Gait analysis in a mouse model resembling Leigh diseaseRia de Haas
Nijmegen Center for Mitochondrial Disorders, Department of Paediatrics, Radboud UMC, Nijmegen, The Netherlands Nijmegen Center for Mitochondrial Disorders, Department of Pharmacology and Toxicology, Radboud UMC, Nijmegen, The Netherlands Electronic address
Behav Brain Res 296:191-8. 2016..In this study we used the Ndufs4 knockout (Ndufs4(-/-)) mouse, a model of mitochondrial complex I deficiency...
- Increased mitochondrial ATP production capacity in brain of healthy mice and a mouse model of isolated complex I deficiency after isoflurane anesthesiaGanesh R Manjeri
Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 286 Biochemistry, P O Box 9101, NL 6500 HB, Nijmegen, The Netherlands
J Inherit Metab Dis 39:59-65. 2016..that the minimal alveolar concentration (MAC) of isoflurane is decreased in complex I-deficient mice lacking the NDUFS4 subunit of the respiratory chain (RC) (1.55 and 0.81% at postnatal (PN) 22-25 days and 1.68 and 0...
- Complete Mitochondrial Complex I Deficiency Induces an Up-Regulation of Respiratory Fluxes That Is Abolished by Traces of Functional Complex IKristina Kuhn
Molekulare Zellbiologie der Pflanzen, Humboldt Universitat zu Berlin, 10115 Berlin, Germany K K Institut de Biologie Moléculaire des Plantes du Centre National de la Recherche Scientifique, 67084 Strasbourg, France K K, E H M andMax Planck Institut für Molekulare Pflanzenphysiologie, 14476 Potsdam Golm, Germany T O, K F, R B, A R F, E H M
Plant Physiol 168:1537-49. 2015..of the catalytic subunit NDUFV1 (for NADH:ubiquinone oxidoreductase flavoprotein1) and compared these plants with ndufs4 (for NADH:ubiquinone oxidoreductase Fe-S protein4) mutants possessing trace amounts of complex I...
- Identification of a deletion in the NDUFS4 gene using array-comparative genomic hybridization in a patient with suspected mitochondrial respiratory diseaseBarbara Lombardo
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universita di Napoli Federico II, Naples, Italy CEINGE Biotecnologie Avanzate, Naples, Italy Electronic address
Gene 535:376-9. 2014..2 involving NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18 kDa (NADH-coenzyme Q reductase; NDUFS4). Both parents were heterozygous for the mutation...
- Mitochondrial complex I deficiency of nuclear origin I. Structural genesHélène Pagniez-Mammeri
Laboratoire de Biochimie, APHP Hôpital de Bicêtre, 78 rue du General Leclerc, 94275 Le Kremlin Bicetre cedex, France
Mol Genet Metab 105:163-72. 2012..The structural NDUFS1, NDUFS2, NDUFV1, and NDUFS4 genes are mutational hot spot genes for isolated complex I deficiency...
- Altered dopamine metabolism and increased vulnerability to MPTP in mice with partial deficiency of mitochondrial complex I in dopamine neuronsFredrik H Sterky
Department of Laboratory Medicine, Karolinska Institutet, Retzius vag 8, SE 17177 Stockholm, Sweden
Hum Mol Genet 21:1078-89. 2012..a study using mice with knockout of the complex I subunit NADH:ubiquinone oxidoreductase iron-sulfur protein 4 (Ndufs4) has challenged this concept as these mice show degeneration of non-dopamine neurons...
- Activation of the cAMP cascade in human fibroblast cultures rescues the activity of oxidatively damaged complex IDomenico De Rasmo
Section of Medical Biochemistry, Department of Basic Medical Sciences, University of Bari, Bari, Italy
Free Radic Biol Med 52:757-64. 2012..It is shown that, in fibroblast cultures, PKA-mediated phosphorylation of the NDUFS4 subunit of complex I rescues the activity of the oxidatively damaged complex...
- A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndromeZ Assouline
Universite Paris Descartes, Paris, France
Biochim Biophys Acta 1822:1062-9. 2012..We describe five new NDUFS4 patients with a similar and constant abnormal BN-PAGE profile and present a meta-analysis of the literature...
- Dysfunction of mitochondrial respiratory chain complex I in neurological disorders: genetics and pathogenetic mechanismsVittoria Petruzzella
Department of Basic Medical Sciences, University of Bari, Policlinico, Bari, Italy
Adv Exp Med Biol 942:371-84. 2012..Examples of complex I dysfunction are herein presented: homozygous mutations in the nuclear NDUFS1 and NDUFS4 genes for structural components of complex I; an autosomic recessive form of encephalopathy associated with ..
- Altered expression of mitochondrial cytochrome c oxidase I and NADH dehydrogenase 4 transcripts associated with gastric tumorigenesis and tumor dedifferentiationJie Tao Ma
Department of Oncology, China Medical University, Shenyang, Liaoning, People s Republic of China
Mol Med Rep 5:1526-30. 2012..024 and P=0.0002, respectively). Elevated expression of CO I and ND4 were associated with gastric tumorigenesis and tumor dedifferentiation ex vivo...
- Metabolic consequences of NDUFS4 gene deletion in immortalized mouse embryonic fibroblastsFederica Valsecchi
Department of Biochemistry, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Biochim Biophys Acta 1817:1925-36. 2012..To better understand the CI pathomechanism, we here studied how deletion of the CI gene NDUFS4 affects cell metabolism...
- Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) geneDillon W Leong
Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia
J Biol Chem 287:20652-63. 2012..Humans diagnosed with mutations in the gene NDUFS4, encoding a nuclear DNA-encoded subunit of CI (NADH dehydrogenase ubiquinone Fe-S protein 4), typically suffer ..
- Subunit-specific incorporation efficiency and kinetics in mitochondrial complex I homeostasisCindy E J Dieteren
Department of Biochemistry, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
J Biol Chem 287:41851-60. 2012..Our analysis showed the same maximum incorporation into holo-CI for NDUFV1, NDUFV2, NDUFS1, NDUFS3, NDUFS4, NDUFA2, and NDUFA12 with nearly complete loss of endogenous subunit at 24 h of induction, indicative of an ..
- Molecular characterization and expression analysis of NDUFS4 gene in m. longissimus dorsi of Laiwu pig (Sus scrofa)Qimei Chen
College of Animal Science and Technology, Shandong Agricultural University, 61 Daizong Street, Tai an, 271018, People s Republic of China
Mol Biol Rep 40:1599-608. 2013..high-density blot, and then identified to be pig mitochondrial NADH dehydrogenase (ubiquinone) Fe-S protein 4 (NDUFS4)...
- Epigallocatechin-3-gallate prevents oxidative phosphorylation deficit and promotes mitochondrial biogenesis in human cells from subjects with Down's syndromeDaniela Valenti
Institute of Biomembranes and Bioenergetics, National Council of Research, Bari, Italy
Biochim Biophys Acta 1832:542-52. 2013..promotion of PKA activity, related to increased cellular levels of cAMP and PKA-dependent phosphorylation of the NDUFS4 subunit of complex I...
- Novel insights into the role of Neurospora crassa NDUFAF2, an evolutionarily conserved mitochondrial complex I assembly factorBruno Pereira
Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal
Mol Cell Biol 33:2623-34. 2013..4 (NDUFA12), 18.4 (NDUFS6), and 21 (NDUFS4) kDa. Our results demonstrate that the 13...
- Isoniazid-induced cell death is precipitated by underlying mitochondrial complex I dysfunction in mouse hepatocytesKang Kwang Lee
University of Connecticut, Department of Pharmaceutical Sciences, Storrs, CT 06269, USA
Free Radic Biol Med 65:584-94. 2013..Hepatocytes isolated from mutant Ndufs4(+/-) mice, although featuring moderately lower protein expression levels of this complex I subunit in liver ..
- Mitochondrial complex I deficiency increases protein acetylation and accelerates heart failureGeorgios Karamanlidis
Mitochondria and Metabolism Center, Department of Anesthesiology and Pain Medicine, University of Washington, Seattle, 98109, USA
Cell Metab 18:239-50. 2013..We modeled the impairment of mitochondrial respiration by the inactivation of the Ndufs4 gene, a protein critical for complex I assembly, in the mouse heart (cKO)...
- mTOR inhibition alleviates mitochondrial disease in a mouse model of Leigh syndromeSimon C Johnson
Department of Pathology, University of Washington, Seattle, WA 98195, USA
Science 342:1524-8. 2013..Administration of rapamycin to these mice, which are deficient in the mitochondrial respiratory chain subunit Ndufs4 [NADH dehydrogenase (ubiquinone) Fe-S protein 4], delays onset of neurological symptoms, reduces neuroinflammation,..
- Respiratory chain complex I, a main regulatory target of the cAMP/PKA pathway is defective in different human diseasesSergio Papa
Department of Basic Medical Sciences, Section of Medical Biochemistry, University of Bari Aldo Moro, Bari, Italy
FEBS Lett 586:568-77. 2012..Complex I dysfunction has, indeed, been found, to be associated with several human diseases. Knowledge of the pathogenetic mechanisms of these diseases can help to develop new therapeutic strategies...
- Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathyReetta Hinttala
Department of Neurology, University of Oulu, Finland
J Mol Med (Berl) 83:786-94. 2005..We sequenced nine complex I subunit coding genes, NDUFAB1, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1 and NDUFV2, in 13 children with defined complex I deficiency...
- Mutations in structural genes of complex I associated with neurological diseasesSalvatore Scacco
Department of Medical Biochemistry, Biology and Physics, University of Bari, Italy
Ital J Biochem 55:254-62. 2006..Two different types of functional defects of the complex are described. In one type mutations in the NDUFS1 and NDUFS4 nuclear structural genes of the complex were identified in two unrelated families...
- Serine (threonine) phosphatase(s) acting on cAMP-dependent phosphoproteins in mammalian mitochondriaAnna Signorile
Department of Medical Biochemistry and Biology, University of Bari, Piazza G Cesare Policlinico, 70125, Bari, Italy
FEBS Lett 512:91-4. 2002..Mg(2+)-dependent Ca(2+)-inhibitable PP2C phosphatase, associated to the inner membrane, dephosphorylates the 18 kDa (NDUFS4 gene) of complex I.
- Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndromePaule Benit
Département de génétique, Maternité and INSERM U393, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015, Paris, France
Hum Genet 112:563-6. 2003..DNA markers have allowed us to exclude the NDUFS7, NDUFS8, NDUFV1 and NDUFS1 genes and to find homozygosity at the NDUFS4 locus...
- Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 geneVittoria Petruzzella
Department of Medical Biochemistry and Medical Biology, University of Bari, Piazza Giulio Cesare, 70124 Bari, Italy
Gene 286:149-54. 2002..genetic defects affecting nuclear encoded subunits of complex I reported to date focusing on those found in the NDUFS4 gene...
- Resting oxygen consumption and in vivo ADP are increased in myopathy due to complex I deficiencyM J Roef
Department of Pediatric Gastroenterology, University Children s Hospital, Utrecht, The Netherlands
Neurology 58:1088-93. 2002..Patients with isolated complex I deficiency (CID) in skeletal muscle mitochondria often present with exercise intolerance as their major clinical symptom...
- Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 geneMiguel A Martin
Centro de Investigacion, Hospital Universitario 12 de Octubre, Madrid, Spain
Arch Neurol 62:659-61. 2005..Mutations in the nuclear-encoded subunits of complex I of the mitochondrial respiratory chain are a recognized cause of Leigh syndrome (LS). Recently, 6 mutations in the NDUFS1 gene were identified in 3 families...
- The phosphorylation of subunits of complex I from bovine heart mitochondriaRuming Chen
Medical Research Council Dunn Human Nutrition Unit, Hills Road, Cambridge CB2 2XY, UK
J Biol Chem 279:26036-45. 2004..is subunit ESSS from complex I and not as previously reported the 18 k subunit (with the N-terminal sequence AQDQ). The phosphorylated residue in subunit ESSS is serine 20...
- Respiratory complex I in brain development and genetic diseaseSergio Papa
Department of Medical Biochemistry and Medical Biology, University of Bari, Piazza G Cesare 70124 Bari, Italy
Neurochem Res 29:547-60. 2004..Different mutations were found in the nuclear NDUFS4 gene coding for the 18 kD (IP, AQDQ) subunit of complex I...
- Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex IS M S Budde
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center Nijmegen, Geert Grooteplein 20, 6500 HB Nijmegen, The Netherlands
J Inherit Metab Dis 26:813-5. 2003..presentation, disease course and results of laboratory and imaging studies of all patients so far published with a NDUFS4 mutation are presented. This reveals marked clinical heterogeneity, even in patients with the same genotype.
- Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiencyCristina Ugalde
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center, Nijmegen, The Netherlands
Hum Mol Genet 13:659-67. 2004..complexes, with a specific decrease of fully-assembled complex III in patients with mutations in NDUFS2 and NDUFS4. We have extended this analysis to patients with an isolated complex I deficiency in which no mutations in ..
- Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complexSalvatore Scacco
Department of Medical Biochemistry and Medical Biology, University of Bari, 70124 Bari, Italy
J Biol Chem 278:44161-7. 2003..of the impact on the structure and function of human complex I of three different homozygous mutations in the NDUFS4 gene coding for the 18-kDa subunit of respiratory complex I, inherited by autosomal recessive mode in three ..
- Complex I and the cAMP cascade in human physiopathologyS Papa
Department of Medical Biochemistry and Biology, University of Bari, Italy
Biosci Rep 22:3-16. 2002..One of these is the 18 kDa(IP) subunit of the mammalian complex I of the respiratory chain, encoded by the nuclear NDUFS4 gene...
- The NDUFS4 nuclear gene of complex I of mitochondria and the cAMP cascadeSergio Papa
Department of Medical Biochemistry and Biology, University of Bari, Piazza Giulio Cesare n 11, 70124 Bari, Italy
Biochim Biophys Acta 1555:147-53. 2002Results of studies on the role of the 18 kDa (IP) polypeptide subunit of complex I, encoded by the nuclear NDUFS4 gene, in isolated bovine heart mitochondria and human and murine cell cultures are presented...
- A mitochondrial complex I defect impairs cold-regulated nuclear gene expressionByeong Ha Lee
Department of Plant Sciences, University of Arizona, Tucson, AZ 85721, USA
Plant Cell 14:1235-51. 2002..Confocal imaging shows that the FRO1:green fluorescent protein fusion protein is localized in mitochondria. These results suggest that cold induction of nuclear gene expression is modulated by mitochondrial function...
- Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex IArcangela Iuso
Department of Medical Biochemistry, Biology, and Physics, University of Bari, Policlinico, Piazza Giulio Cesare, 70124 Bari, Italy
J Biol Chem 281:10374-80. 2006The pathogenic mechanism of a G44A nonsense mutation in the NDUFS4 gene and a C1564A mutation in the NDUFS1 gene of respiratory chain complex I was investigated in fibroblasts from human patients...
- Control of oxygen free radical formation from mitochondrial complex I: roles for protein kinase A and pyruvate dehydrogenase kinaseSandeep Raha
The Hospital for Sick Children, Metabolism Research Programme, Toronto, ON, Canada
Free Radic Biol Med 32:421-30. 2002..proteins, one with a M(r) of 6 kDa consistent with the NDUFA1 (MWFE), and one at 18kDa consistent with either NDUFS4 (AQDQ) or NDUFB7 (B18)...
- The NADH: ubiquinone oxidoreductase (complex I) of the mammalian respiratory chain and the cAMP cascadeS Papa
Department of Medical Biochemistry and Biology, University of Bari, Italy
J Bioenerg Biomembr 34:1-10. 2002..of the 18-kDa IP subunit of the mammalian complex I of the respiratory chain, encoded by the nuclear NDUFS4 gene (chromosome 5)...
- A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndromeV Petruzzella
Department of Medical Biochemistry and Biology, University of Bari, Piazza G Cesare, 70124 Bari, Italy
Hum Mol Genet 10:529-35. 2001..of this complex and exhibiting Leigh-like syndrome has revealed, in one of them, a novel mutation in the NDUFS4 gene encoding the 18 kDa subunit...
- Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndromeS Papa
Department of Medical Biochemistry and Biology, University of Bari, Italy
FEBS Lett 489:259-62. 2001..showing that in a patient with fatal neurological syndrome, the homozygous 5 bp duplication in the cDNA of the NDUFS4 18 kDa subunit of complex I abolishes cAMP-dependent phosphorylation of this protein and activation of the complex...
- Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patternsR H Triepels
Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, University Hospital Nijmegen St Radboud, 6500 HB Nijmegen, The Netherlands
J Biol Chem 276:8892-7. 2001..patients had undefined Complex I defects, whereas the other patients had defects in NDUFV1, NDUFS2 (two patients), NDUFS4 (two patients), NDUFS7, and NDUFS8...
- cAMP-dependent protein kinase and phosphoproteins in mammalian mitochondria. An extension of the cAMP-mediated intracellular signal transductionS Papa
Institute of Medical Biochemistry and Chemistry University of Bari, Policlinico, Italy
FEBS Lett 444:245-9. 1999..One of these has been identified as the AQDQ subunit of complex I...
- Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chainT Emahazion
Medical Genetics Unit, Department of Genetics and Pathology, Biomedical Center, Uppsala University, Uppsala, Sweden
Cytogenet Cell Genet 82:115-9. 1998..Radiation hybrid mapping of these PCRs located 15 complex I genes to chromosomes l, 4, 5 (2 genes), 7 (2 genes), 8, 9 (2 genes), 11, 14, 16 (2 genes), 18, and 19...
- Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunitL van den Heuvel
Department of Pediatrics, University Hospital, Nijmegen, The Netherlands
Am J Hum Genet 62:262-8. 1998We report the cDNA cloning, chromosomal localization, and a mutation in the human nuclear gene encoding the 18-kD (AQDQ) subunit of the mitochondrial respiratory chain complex I...
- The nuclear-encoded 18 kDa (IP) AQDQ subunit of bovine heart complex I is phosphorylated by the mitochondrial cAMP-dependent protein kinaseS Papa
Institute of Medical Biochemistry and Chemistry, CNR, University of Bari, Italy
FEBS Lett 379:299-301. 1996..The 18 kDa phosphoprotein has now been isolated and sequenced. It is identified as the 18 kDa (IP) AQDQ subunit of complex I, a protein of 133 amino acids with a phosphorylation consensus site RVS at position 129-131.
- Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defectsHélène Pagniez-Mammeri
Laboratoire de Biochimie, APHP Hôpital de Bicêtre, 78, rue du General Leclerc, 94275 Le Kremlin Bicetre cedex, France
Mol Genet Metab 96:196-200. 2009..Eight complex I nuclear genes, among the most frequently mutated (NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1 and NDUFV2), were studied in 22 cDNA fragments spanning their coding sequences in 8 ..
- Relationship between mitochondrial NADH-ubiquinone reductase and a bacterial NAD-reducing hydrogenaseS J Pilkington
Medical Research Council Laboratory of Molecular Biology, Cambridge, U K
Biochemistry 30:2166-75. 1991....
- Loss of mitochondrial complex I activity potentiates dopamine neuron death induced by microtubule dysfunction in a Parkinson's disease modelWon Seok Choi
Department of Environmental and Occupational Health Sciences, Graduate Program in Neurobiology and Behavior, University of Washington, Seattle, WA 98195, USA
J Cell Biol 192:873-82. 2011..However, inactivation of the Ndufs4 gene, which compromises complex I activity, does not affect the survival of dopamine neurons in culture or in the ..
- Evolution of respiratory complex I: "supernumerary" subunits are present in the alpha-proteobacterial enzymeChui Ying Yip
Medical Research Council Mitochondrial Biology Unit, Wellcome Trust MRC Building, Hills Road, Cambridge CB2 0XY, United Kingdom
J Biol Chem 286:5023-33. 2011..2, AQDQ/18, and 13 kDa (bovine nomenclature)...
- Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndromeAlbert Quintana
Department of Biochemistry, Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA
Proc Natl Acad Sci U S A 107:10996-1001. 2010To explore the lethal, ataxic phenotype of complex I deficiency in Ndufs4 knockout (KO) mice, we inactivated Ndufs4 selectively in neurons and glia (NesKO mice)...
- Phosphorylation pattern of the NDUFS4 subunit of complex I of the mammalian respiratory chainDomenico De Rasmo
Department of Medical Biochemistry, Biology and Physics DIBIFIM, University of Bari, Italy
Mitochondrion 10:464-71. 2010The NDUFS4 subunit of complex I of the mammalian respiratory chain has a fully conserved carboxy-terminus with a canonical RVSTK phosphorylation site...
- cAMP-dependent protein kinase regulates post-translational processing and expression of complex I subunits in mammalian cellsSergio Papa
Department of Medical Biochemistry, Biology and Physics DIBIFIM, University of Bari, Bari, Italy
Biochim Biophys Acta 1797:649-58. 2010..PKA-mediated phosphorylation of the NDUFS4 subunit of complex I promotes in cell cultures in vivo import/maturation in mitochondria of the precursor of this ..
- Remodeled respiration in ndufs4 with low phosphorylation efficiency suppresses Arabidopsis germination and growth and alters control of metabolism at nightEtienne H Meyer
Australian Research Council Centre of Excellence in Plant Energy Biology, University of Western Australia, Crawley, Western Australia 6009, Australia
Plant Physiol 151:603-19. 2009..We characterized an Arabidopsis (Arabidopsis thaliana) mutant, ndufs4 (for NADH dehydrogenase [ubiquinone] fragment S subunit 4), lacking complex I of the respiratory chain, which has ..
- NDUFS4: creation of a mouse model mimicking a Complex I disorderChristopher A Ingraham
Department of Biomedical Genetics, Univ of Rochester Medical Center, Rochester, NY, USA
Mitochondrion 9:204-10. 2009The Complex I NADH dehydrogenase-ubiquinone-FeS 4 (NDUFS4) subunit gene is involved in proper Complex I function such that the loss of NDUFS4 decreases Complex I activity resulting in mitochondrial disease...
- NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvementE Leshinsky-Silver
Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel
Mol Genet Metab 97:185-9. 2009..The patient was found to be compound heterozygous of two mutations in the NDUFS4 gene: p.Asp119His (a novel mutation) and p.Lys154fs (recently described in an Ashkenazi Jewish family)...
- Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseasesSergio Papa
Department of Medical Biochemistry, Biology and Physics, University of Bari, Italy
Biochim Biophys Acta 1787:502-17. 2009..types of hereditary complex I dysfunction are dealt with: (i) homozygous mutations in the nuclear genes NDUFS1 and NDUFS4 of complex I, associated with mitochondrial encephalopathy; (ii) a recessive hereditary epileptic neurological ..
- Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variantsVittoria Petruzzella
Department of Medical Biochemistry and Medical Biology, University of Bari, Piazza G Cesare, Bari 70124, Italy
FEBS Lett 579:3770-6. 2005The effect on the stability of alternative transcripts of different mutations of the NDUFS4 gene in patients with Leigh syndrome with complex I deficiency is presented...
- A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish familyS L Anderson
Department of Biological Sciences, Fordham University, 441 E Fordham Rd, Bronx, NY 10458, USA
J Inherit Metab Dis 31:S461-7. 2008..Linkage to microsatellite markers D5S1969 and D5S407 led to evaluation of the complex I gene NDUFS4, in which we identified a novel homozygous c.462delA mutation that disrupts the reading frame...
- Mitochondrial complex I inhibition is not required for dopaminergic neuron death induced by rotenone, MPP+, or paraquatWon Seok Choi
Toxicology Program, Department of Environmental and Occupational Health Sciences, Graduate Program in Neurobiology and Behavior, Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA 98195 7234, USA
Proc Natl Acad Sci U S A 105:15136-41. 2008..To test this hypothesis genetically, we used a mouse strain lacking functional Ndufs4, a gene encoding a subunit required for complete assembly and function of complex I...
- The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutationsDamiano Panelli
Institute of Biomembranes and Bioenergetics, Italian Research Council, Bari, Italy
Biochimie 90:1452-60. 2008The regulation of alternative transcripts of the NDUFS4 gene of complex I of the respiratory chain has been studied in human cell lines...
- Mammalian complex I: a regulable and vulnerable pacemaker in mitochondrial respiratory functionSergio Papa
Department of Medical Biochemistry, Biology and Physics DIBIFIM, University of Bari, Italy
Biochim Biophys Acta 1777:719-28. 2008..serine phosphorylation in the conserved C-terminus of the subunit of complex I encoded by the nuclear gene NDUFS4. PKA mediated phosphorylation of this Ser in the C-terminus of the protein promotes its mitochondrial import and ..
- Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathyShane E Kruse
Howard Hughes Medical Institute and Department of Biochemistry, University of Washington, Seattle, WA 98195, USA
Cell Metab 7:312-20. 2008To study effects of mitochondrial complex I (CI, NADH:ubiquinone oxidoreductase) deficiency, we inactivated the Ndufs4 gene, which encodes an 18 kDa subunit of the 45-protein CI complex...
- cAMP-dependent protein kinase regulates the mitochondrial import of the nuclear encoded NDUFS4 subunit of complex IDomenico De Rasmo
Department of Medical Biochemistry, Biology and Physics DIBIFIM, University of Bari, 70124 Bari, Italy
Cell Signal 20:989-97. 2008The subunits of complex I encoded by the mammalian nuclear genes NDUFS4 (AQDQ protein) and NDUFB11 (ESSS protein) contain serine/threonine consensus phosphorylation sequences (CPS) in their presequence, the first also in the C-terminus...
- Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex IMichael Lazarou
Department of Biochemistry, La Trobe University, Melbourne, Australia
Mol Cell Biol 27:4228-37. 2007..Subunit exchange may also act as an efficient mechanism to prevent the accumulation of oxidatively damaged subunits that would otherwise be detrimental to mitochondrial oxidative phosphorylation and have the potential to cause disease...
- Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patientsRutger O Vogel
Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, Radboud University Nijmegen Medical Centre, 6500 HB, Nijmegen, The Netherlands
Mol Genet Metab 91:176-82. 2007..B17.2L occurred in a 830 kDa subcomplex specifically in patients with mutations in subunits NDUFV1 and NDUFS4. Contrasting with this seemingly specific requirement, the previously described NDUFAF1 association to 500-850 kDa ..
- cAMP controls oxygen metabolism in mammalian cellsClaudia Piccoli
Department of Biomedical Science, University of Foggia, Foggia, Italy
FEBS Lett 580:4539-43. 2006..A missense genetic defect in the NDUFS4 subunit, putative substrate of PKA, suppressed, on the other hand, the activity of the complex and prevented ROS ..
- Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activityMaria Antonietta Calvaruso
Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics, Radboud University Nijmegen Medical Centre, HB 6500 Nijmegen, The Netherlands
Hum Mol Genet 21:115-20. 2012..Mutations in the NDUFS4 gene, encoding an accessory subunit of this complex, cause a Leigh-like phenotype in humans...
- Norma Frizzell; Fiscal Year: 2014..protein succination is detectable on a range of proteins in the brainstem of a mouse model of Leigh syndrome (Ndufs4 knockout) in association with neuropathology...
- Gino A Cortopassi; Fiscal Year: 2016..In animal models of the diseases, LHON: the ndufs4 mouse, and ADOA: the opa1 mouse, there is neurodegeneration of RGCs, and dendropathy of RGCs, respectively, ..
- Rong Tian; Fiscal Year: 2014..this hypothesis, we generated a mouse model with cardiac-specific deficiency of Complex I function by deleting the Ndufs4 subunit (Ndusf4H-/-)...
- Mouse Modeling of Leigh Disease and Complex I AssemblyCarl Pinkert; Fiscal Year: 2007..Various mutations in the NADH dehydrogenase-ubiquinone-FeS 4 (NDUFS4) gene have been associated with decreased Complex I activity in mitochondrial electron transport and Leigh disease...
- Zhengui Xia; Fiscal Year: 2014..Our collaborator, Dr. Richard Palmiter, recently generated a transgenic mouse strain lacking functional Ndufs4, a gene encoding a subunit required for complete assembly and function of complex I...