These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 36717040)

  • 1. De novo frameshift variant in MT-ND1 causes a mitochondrial complex I deficiency associated with MELAS syndrome.
    Lou X; Zhou Y; Liu Z; Xie Y; Zhang L; Zhao S; Gong S; Zhuo X; Wang J; Dai L; Ren X; Tong X; Jiang L; Fang H; Fang F; Lyu J
    Gene; 2023 Apr; 860():147229. PubMed ID: 36717040
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.
    Danhelovska T; Kolarova H; Zeman J; Hansikova H; Vaneckova M; Lambert L; Kucerova-Vidrova V; Berankova K; Honzik T; Tesarova M
    BMC Pediatr; 2020 Jan; 20(1):41. PubMed ID: 31996177
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel mutations m.3959G>A and m.3995A>G in mitochondrial gene MT-ND1 associated with MELAS.
    Lin J; Zhao CB; Lu JH; Wang HJ; Zhu WH; Xi JY; Lu J; Luo SS; Ma D; Wang Y; Xiao BG; Lu CZ
    Mitochondrial DNA; 2014 Feb; 25(1):56-62. PubMed ID: 23834081
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations of the mitochondrial ND1 gene as a cause of MELAS.
    Kirby DM; McFarland R; Ohtake A; Dunning C; Ryan MT; Wilson C; Ketteridge D; Turnbull DM; Thorburn DR; Taylor RW
    J Med Genet; 2004 Oct; 41(10):784-9. PubMed ID: 15466014
    [No Abstract]   [Full Text] [Related]  

  • 5. The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA.
    Horváth R; Reilmann R; Holinski-Feder E; Ringelstein EB; Klopstock T
    Neuromuscul Disord; 2008 Jul; 18(7):553-6. PubMed ID: 18590963
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.
    Frey S; Geffroy G; Desquiret-Dumas V; Gueguen N; Bris C; Belal S; Amati-Bonneau P; Chevrollier A; Barth M; Henrion D; Lenaers G; Bonneau D; Reynier P; Procaccio V
    Biochim Biophys Acta Mol Basis Dis; 2017 Jan; 1863(1):284-291. PubMed ID: 27815040
    [TBL] [Abstract][Full Text] [Related]  

  • 7. New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the
    Endres D; Süß P; Maier SJ; Friedel E; Nickel K; Ziegler C; Fiebich BL; Glocker FX; Stock F; Egger K; Lange T; Dacko M; Venhoff N; Erny D; Doostkam S; Komlosi K; Domschke K; Tebartz van Elst L
    Front Immunol; 2019; 10():412. PubMed ID: 30949164
    [No Abstract]   [Full Text] [Related]  

  • 8. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
    Blok MJ; Spruijt L; de Coo IF; Schoonderwoerd K; Hendrickx A; Smeets HJ
    J Med Genet; 2007 Apr; 44(4):e74. PubMed ID: 17400793
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.
    Baertling F; Sánchez-Caballero L; van den Brand MAM; Distelmaier F; Janssen MCH; Rodenburg RJT; Smeitink JAM; Nijtmans LGJ
    J Pediatr; 2018 May; 196():309-313.e3. PubMed ID: 29395179
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Assocation Between Leber's Hereditary Optic Neuropathy and MT-ND1 3460G>A Mutation-Induced Alterations in Mitochondrial Function, Apoptosis, and Mitophagy.
    Zhang J; Ji Y; Chen J; Xu M; Wang G; Ci X; Lin B; Mo JQ; Zhou X; Guan MX
    Invest Ophthalmol Vis Sci; 2021 Jul; 62(9):38. PubMed ID: 34311469
    [TBL] [Abstract][Full Text] [Related]  

  • 11. LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1.
    Pätsi J; Maliniemi P; Pakanen S; Hinttala R; Uusimaa J; Majamaa K; Nyström T; Kervinen M; Hassinen IE
    Biochim Biophys Acta; 2012 Feb; 1817(2):312-8. PubMed ID: 22079202
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Disease-causing mitochondrial heteroplasmy segregated within induced pluripotent stem cell clones derived from a patient with MELAS.
    Folmes CD; Martinez-Fernandez A; Perales-Clemente E; Li X; McDonald A; Oglesbee D; Hrstka SC; Perez-Terzic C; Terzic A; Nelson TJ
    Stem Cells; 2013 Jul; 31(7):1298-308. PubMed ID: 23553816
    [TBL] [Abstract][Full Text] [Related]  

  • 13. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.
    Blakely EL; de Silva R; King A; Schwarzer V; Harrower T; Dawidek G; Turnbull DM; Taylor RW
    Eur J Hum Genet; 2005 May; 13(5):623-7. PubMed ID: 15657614
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues.
    Panadés-de Oliveira L; Montoya J; Emperador S; Ruiz-Pesini E; Jericó I; Arenas J; Hernández-Lain A; Blázquez A; Martín MÁ; Domínguez-González C
    Mitochondrion; 2020 Jan; 50():14-18. PubMed ID: 31639449
    [TBL] [Abstract][Full Text] [Related]  

  • 15. m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome.
    Jean J; Christodoulou E; Gai X; Tamrazi B; Vera M; Mitchell WG; Schmidt RJ
    Cold Spring Harb Mol Case Stud; 2022 Feb; 8(2):. PubMed ID: 35217561
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
    Chol M; Lebon S; Bénit P; Chretien D; de Lonlay P; Goldenberg A; Odent S; Hertz-Pannier L; Vincent-Delorme C; Cormier-Daire V; Rustin P; Rötig A; Munnich A
    J Med Genet; 2003 Mar; 40(3):188-91. PubMed ID: 12624137
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.
    Ravn K; Wibrand F; Hansen FJ; Horn N; Rosenberg T; Schwartz M
    Eur J Hum Genet; 2001 Oct; 9(10):805-9. PubMed ID: 11781695
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Metabolic interventions against complex I deficiency in MELAS syndrome.
    Majamaa K; Rusanen H; Remes A; Hassinen IE
    Mol Cell Biochem; 1997 Sep; 174(1-2):291-6. PubMed ID: 9309702
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts.
    Cotán D; Cordero MD; Garrido-Maraver J; Oropesa-Ávila M; Rodríguez-Hernández A; Gómez Izquierdo L; De la Mata M; De Miguel M; Lorite JB; Infante ER; Jackson S; Navas P; Sánchez-Alcázar JA
    FASEB J; 2011 Aug; 25(8):2669-87. PubMed ID: 21551238
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes.
    Vacchiano V; Caporali L; La Morgia C; Carbonelli M; Amore G; Bartolomei I; Cascavilla ML; Barboni P; Lamperti C; Catania A; Chan JW; Karanja R; Sadun AA; Liguori R; Bianchi A; Gavazzi G; Mascalchi M; Salvi F; Carelli V
    Mitochondrion; 2021 Sep; 60():142-149. PubMed ID: 34390870
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.