| Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle. | Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle.
Sonsalla G, Malpartida AB, Riedemann T, Gusic M, Rusha E, Bulli G, Najas S, Janjic A, Hersbach BA, Smialowski P, Drukker M, Enard W, Prehn JHM, Prokisch H, Götz M, Masserdotti G., Free PMC Article | 04/11/2024 |
| Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention. | Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
van de Wal MAE, Adjobo-Hermans MJW, Keijer J, Schirris TJJ, Homberg JR, Wieckowski MR, Grefte S, van Schothorst EM, van Karnebeek C, Quintana A, Koopman WJH., Free PMC Article | 04/9/2022 |
| Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation. | Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation.
González-Quintana A, Trujillo-Tiebas MJ, Fernández-Perrone AL, Blázquez A, Lucia A, Morán M, Ugalde C, Arenas J, Ayuso C, Martín MA. | 07/10/2021 |
| NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2. | NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2.
Adjobo-Hermans MJW, de Haas R, Willems PHGM, Wojtala A, van Emst-de Vries SE, Wagenaars JA, van den Brand M, Rodenburg RJ, Smeitink JAM, Nijtmans LG, Sazanov LA, Wieckowski MR, Koopman WJH. | 10/31/2020 |
| BAP31 interacts with mitochondria-localized proteins, including Tom40, to stimulate the translocation of NDUFS4, the component of complex I from the cytosol to the mitochondria. | BAP31 regulates mitochondrial function via interaction with Tom40 within ER-mitochondria contact sites.
Namba T., Free PMC Article | 05/2/2020 |
| The clinical presentations of five individuals of Hutterite descent with Leigh disease are described herein. An identity-by-descent mapping and candidate gene approach was used to identify a novel homozygous c.393dupA frameshift mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 4 (NDUFS4) gene. | A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
Lamont RE, Beaulieu CL, Bernier FP, Sparkes R, Innes AM, Jackel-Cram C, Ober C, Parboosingh JS, Lemire EG. | 10/21/2017 |
| The authors concluded that NDUFS4-related Leigh syndrome is invariably linked to an early onset severe phenotype that results in early death. | Ndufs4 related Leigh syndrome: A case report and review of the literature.
Ortigoza-Escobar JD, Oyarzabal A, Montero R, Artuch R, Jou C, Jiménez C, Gort L, Briones P, Muchart J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P, Pérez-Dueñas B. | 05/13/2017 |
| The c.462delA deletion led to a complete lack of NDUFS4 peptide in isolated mitochondria, and this deficiency caused an inefficient mitochondrial complex I assembly and Leigh syndrome symptoms. | Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.
Assereto S, Robbiano A, Di Rocco M, Rossi A, Cassandrini D, Panicucci C, Brigati G, Biancheri R, Bruno C, Minetti C, Trucks H, Sander T, Zara F, Gazzerro E. | 01/24/2015 |
| Mutations in the NDUFS4 gene and its subunits are associated with the mitochondrial complex I deficiency. (Review) | Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit.
Breuer ME, Willems PH, Smeitink JA, Koopman WJ, Nooteboom M. | 08/3/2013 |
| Elevated expression of CO I and ND4 were associated with gastric tumorigenesis and tumor dedifferentiation | Altered expression of mitochondrial cytochrome c oxidase I and NADH dehydrogenase 4 transcripts associated with gastric tumorigenesis and tumor dedifferentiation.
Ma JT, Han CB, Zhou Y, Zhao JZ, Jing W, Zou HW. | 08/11/2012 |
| Studies indicate that that the functional capacity of complex I depends on phosphorylation and import of subunit NDUFS4 protein. | Respiratory chain complex I, a main regulatory target of the cAMP/PKA pathway is defective in different human diseases.
Papa S, Rasmo DD, Technikova-Dobrova Z, Panelli D, Signorile A, Scacco S, Petruzzella V, Papa F, Palmisano G, Gnoni A, Micelli L, Sardanelli AM. | 05/19/2012 |
| In fibroblast cultures, protein kinase A-mediated phosphorylation of the NDUFS4 subunit of complex I rescues the activity of the oxidatively damaged complex. | Activation of the cAMP cascade in human fibroblast cultures rescues the activity of oxidatively damaged complex I.
De Rasmo D, Signorile A, Larizza M, Pacelli C, Cocco T, Papa S. | 05/19/2012 |
| case Report: A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. | A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.
Anderson SL, Chung WK, Frezzo J, Papp JC, Ekstein J, DiMauro S, Rubin BY. | 01/14/2012 |
| NDUFS4 presents a hotspot of mutations in the genetic apparatus of oxidative phosphorylation and the correct assembly of the subunit it encodes is essential for completion of the assembly of complex I. | NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.
Leshinsky-Silver E, Lebre AS, Minai L, Saada A, Steffann J, Cohen S, Rötig A, Munnich A, Lev D, Lerman-Sagie T. | 01/21/2010 |
| regulation of alternative transcripts of the NDUFS4 gene of complex I of the respiratory chain | The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations.
Panelli D, Petruzzella V, Vitale R, De Rasmo D, Munnich A, Rötig A, Papa S. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (5) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
Saito A, Kawamoto M, Kamatani N. Polymorphisms in mitochondrial genes and prostate cancer risk.
Wang L, McDonnell SK, Hebbring SJ, Cunningham JM, St Sauver J, Cerhan JR, Isaya G, Schaid DJ, Thibodeau SN. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.
Starr JM, Shiels PG, Harris SE, Pattie A, Pearce MS, Relton CL, Deary IJ. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
Harris SE, Fox H, Wright AF, Hayward C, Starr JM, Whalley LJ, Deary IJ. | 11/19/2008 |
| impact of PKA mediated phosphorylation on the mitochondrial import of in vitro and in vivo synthesized NDUFS4 protein | cAMP-dependent protein kinase regulates the mitochondrial import of the nuclear encoded NDUFS4 subunit of complex I.
De Rasmo D, Panelli D, Sardanelli AM, Papa S. | 01/21/2010 |
| NDUSF4 is required for the assembly and stabilization of a portion of complex I that contains a number of subunits. | Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I.
Lazarou M, McKenzie M, Ohtake A, Thorburn DR, Ryan MT., Free PMC Article | 01/21/2010 |
| A nonsense mutation leading to the abrogation of mRNA decay was found in NDUFS4 gene of a Leigh syndrome patient. | Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants.
Petruzzella V, Panelli D, Torraco A, Stella A, Papa S. | 01/21/2010 |
| REVIEW: Phosphorylation of the NDUFS4 protein, overall respiratory activity, and mutations sassociated with deficiency of complex I. | The NADH: ubiquinone oxidoreductase (complex I) of the mammalian respiratory chain and the cAMP cascade.
Papa S, Sardanelli AM, Scacco S, Petruzzella V, Technikova-Dobrova Z, Vergari R, Signorile A. | 01/21/2010 |
| In patients with complex I deficiency, the increased whole-body oxygen consumption rate at rest reflects increased electron transport through the respiratory chain, driven by a decreased phosphorylation potential. | Resting oxygen consumption and in vivo ADP are increased in myopathy due to complex I deficiency.
Roef MJ, Reijngoud DJ, Jeneson JA, Berger R, de Meer K. | 01/21/2010 |
| mutations in the NDUFS1 and NDUFS4 genes of complex I cause dysfunction in cellular oxidative metabolism | Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I.
Iuso A, Scacco S, Piccoli C, Bellomo F, Petruzzella V, Trentadue R, Minuto M, Ripoli M, Capitanio N, Zeviani M, Papa S. | 01/21/2010 |
| observations show the essential role of the 18-kDa subunit of respiratory complex I (NDUFS4) gene in the structure and function of complex I and give insight into pathogenic mechanism of NDUFS4 gene mutations in a severe defect of complex I | 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 complex.
Scacco S, Petruzzella V, Budde S, Vergari R, Tamborra R, Panelli D, van den Heuvel LP, Smeitink JA, Papa S. | 01/21/2010 |