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 *

274 related articles for article (PubMed ID: 10393702)

  • 1. Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts.
    Procaccio V; Mousson B; Beugnot R; Duborjal H; Feillet F; Putet G; Pignot-Paintrand I; Lombès A; De Coo R; Smeets H; Lunardi J; Issartel JP
    J Clin Invest; 1999 Jul; 104(1):83-92. PubMed ID: 10393702
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
    Leslie N; Wang X; Peng Y; Valencia CA; Khuchua Z; Hata J; Witte D; Huang T; Bove KE
    Hum Pathol; 2016 Mar; 49():27-32. PubMed ID: 26826406
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Familial cardiomyopathy with cataracts and lactic acidosis: a defect in complex I (NADH-dehydrogenase) of the mitochondria respiratory chain.
    Pitkanen S; Merante F; McLeod DR; Applegarth D; Tong T; Robinson BH
    Pediatr Res; 1996 Mar; 39(3):513-21. PubMed ID: 8929874
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase.
    Pitkanen S; Robinson BH
    J Clin Invest; 1996 Jul; 98(2):345-51. PubMed ID: 8755643
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Progressive encephalopathy and complex I deficiency associated with mutations in MTND1.
    Moslemi AR; Darin N; Tulinius M; Wiklund LM; Holme E; Oldfors A
    Neuropediatrics; 2008 Feb; 39(1):24-8. PubMed ID: 18504678
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Repopulation of rho0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA(Gly) results in respiratory chain dysfunction.
    Raha S; Merante F; Shoubridge E; Myint AT; Tein I; Benson L; Johns T; Robinson BH
    Hum Mutat; 1999; 13(3):245-54. PubMed ID: 10090480
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.
    Berger I; Hershkovitz E; Shaag A; Edvardson S; Saada A; Elpeleg O
    Ann Neurol; 2008 Mar; 63(3):405-8. PubMed ID: 18306244
    [TBL] [Abstract][Full Text] [Related]  

  • 8. New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency.
    Dionisi-Vici C; Ruitenbeek W; Fariello G; Bentlage H; Wanders RJ; Schägger H; Bosman C; Piantadosi C; Sabetta G; Bertini E
    Ann Neurol; 1997 Oct; 42(4):661-5. PubMed ID: 9382480
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia.
    Robinson BH; Ward J; Goodyer P; Baudet A
    J Clin Invest; 1986 May; 77(5):1422-7. PubMed ID: 3009544
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis.
    Ueki I; Koga Y; Povalko N; Akita Y; Nishioka J; Yatsuga S; Fukiyama R; Matsuishi T
    Mitochondrion; 2006 Feb; 6(1):29-36. PubMed ID: 16337222
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.
    Hoefs SJ; Dieteren CE; Rodenburg RJ; Naess K; Bruhn H; Wibom R; Wagena E; Willems PH; Smeitink JA; Nijtmans LG; van den Heuvel LP
    Hum Mutat; 2009 Jul; 30(7):E728-36. PubMed ID: 19384974
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.
    Oglesbee D; Freedenberg D; Kramer KA; Anderson BD; Hahn SH
    Pediatr Neurol; 2006 Oct; 35(4):289-92. PubMed ID: 16996407
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
    Loeffen JL; Smeitink JA; Trijbels JM; Janssen AJ; Triepels RH; Sengers RC; van den Heuvel LP
    Hum Mutat; 2000; 15(2):123-34. PubMed ID: 10649489
    [TBL] [Abstract][Full Text] [Related]  

  • 14. cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
    Loeffen JL; Triepels RH; van den Heuvel LP; Schuelke M; Buskens CA; Smeets RJ; Trijbels JM; Smeitink JA
    Biochem Biophys Res Commun; 1998 Dec; 253(2):415-22. PubMed ID: 9878551
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy.
    Hoppel CL; Kerr DS; Dahms B; Roessmann U
    J Clin Invest; 1987 Jul; 80(1):71-7. PubMed ID: 3110216
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
    Ugalde C; Triepels RH; Coenen MJ; van den Heuvel LP; Smeets R; Uusimaa J; Briones P; Campistol J; Majamaa K; Smeitink JA; Nijtmans LG
    Ann Neurol; 2003 Nov; 54(5):665-9. PubMed ID: 14595656
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray.
    van der Westhuizen FH; van den Heuvel LP; Smeets R; Veltman JA; Pfundt R; van Kessel AG; Ursing BM; Smeitink JA
    Neuropediatrics; 2003 Feb; 34(1):14-22. PubMed ID: 12690563
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Deficiency of pyruvate dehydrogenase complex in tissues of an eight month old infant.
    Hansikova H; Zeman J; Klement P; Technikova-Dobrova Z; Houstkova H; Houstek J; Papa S
    Biochem Mol Biol Int; 1993 Dec; 31(6):1157-66. PubMed ID: 8193600
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.
    Cameron JM; Levandovskiy V; Mackay N; Ackerley C; Chitayat D; Raiman J; Halliday WH; Schulze A; Robinson BH
    Mitochondrion; 2011 Jan; 11(1):191-9. PubMed ID: 20920610
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis.
    Blakely EL; Rennie KJ; Jones L; Elstner M; Chrzanowska-Lightowlers ZM; White CB; Shield JP; Pilz DT; Turnbull DM; Poulton J; Taylor RW
    Pediatr Res; 2006 Mar; 59(3):440-4. PubMed ID: 16492986
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.