208 related articles for article (PubMed ID: 15901599)
1. Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency.
Koopman WJ; Visch HJ; Verkaart S; van den Heuvel LW; Smeitink JA; Willems PH
Am J Physiol Cell Physiol; 2005 Oct; 289(4):C881-90. PubMed ID: 15901599
[TBL] [Abstract][Full Text] [Related]
2. Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?
Koopman WJ; Verkaart S; Visch HJ; van Emst-de Vries S; Nijtmans LG; Smeitink JA; Willems PH
Am J Physiol Cell Physiol; 2007 Jul; 293(1):C22-9. PubMed ID: 17428841
[TBL] [Abstract][Full Text] [Related]
3. Mitochondrial and cytosolic thiol redox state are not detectably altered in isolated human NADH:ubiquinone oxidoreductase deficiency.
Verkaart S; Koopman WJ; Cheek J; van Emst-de Vries SE; van den Heuvel LW; Smeitink JA; Willems PH
Biochim Biophys Acta; 2007 Sep; 1772(9):1041-51. PubMed ID: 17600689
[TBL] [Abstract][Full Text] [Related]
4. Mitochondrial dynamics in human NADH:ubiquinone oxidoreductase deficiency.
Willems PH; Smeitink JA; Koopman WJ
Int J Biochem Cell Biol; 2009 Oct; 41(10):1773-82. PubMed ID: 19703648
[TBL] [Abstract][Full Text] [Related]
5. Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.
Ugalde C; Janssen RJ; van den Heuvel LP; Smeitink JA; Nijtmans LG
Hum Mol Genet; 2004 Mar; 13(6):659-67. PubMed ID: 14749350
[TBL] [Abstract][Full Text] [Related]
6. 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
IUBMB Life; 2013 Mar; 65(3):202-8. PubMed ID: 23378164
[TBL] [Abstract][Full Text] [Related]
7. In vitro characterization of mitochondrial function and structure in rat and human cells with a deficiency of the NADH: ubiquinone oxidoreductase Ndufc2 subunit.
Raffa S; Scrofani C; Valente S; Micaloni A; Forte M; Bianchi F; Coluccia R; Geurts AM; Sciarretta S; Volpe M; Torrisi MR; Rubattu S
Hum Mol Genet; 2017 Dec; 26(23):4541-4555. PubMed ID: 28973657
[TBL] [Abstract][Full Text] [Related]
8. Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.
Blanchet L; Smeitink JA; van Emst-de Vries SE; Vogels C; Pellegrini M; Jonckheere AI; Rodenburg RJ; Buydens LM; Beyrath J; Willems PH; Koopman WJ
Sci Rep; 2015 Jan; 5():8035. PubMed ID: 25620325
[TBL] [Abstract][Full Text] [Related]
9. Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters.
Blanchet L; Buydens MC; Smeitink JA; Willems PH; Koopman WJ
Curr Pharm Des; 2011 Dec; 17(36):4023-33. PubMed ID: 22188452
[TBL] [Abstract][Full Text] [Related]
10. Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency.
Visch HJ; Rutter GA; Koopman WJ; Koenderink JB; Verkaart S; de Groot T; Varadi A; Mitchell KJ; van den Heuvel LP; Smeitink JA; Willems PH
J Biol Chem; 2004 Sep; 279(39):40328-36. PubMed ID: 15269216
[TBL] [Abstract][Full Text] [Related]
11. Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency.
Leipnitz G; Mohsen AW; Karunanidhi A; Seminotti B; Roginskaya VY; Markantone DM; Grings M; Mihalik SJ; Wipf P; Van Houten B; Vockley J
Sci Rep; 2018 Jan; 8(1):1165. PubMed ID: 29348607
[TBL] [Abstract][Full Text] [Related]
12. Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
Hartmannová H; Piherová L; Tauchmannová K; Kidd K; Acott PD; Crocker JF; Oussedik Y; Mallet M; Hodaňová K; Stránecký V; Přistoupilová A; Barešová V; Jedličková I; Živná M; Sovová J; Hůlková H; Robins V; Vrbacký M; Pecina P; Kaplanová V; Houštěk J; Mráček T; Thibeault Y; Bleyer AJ; Kmoch S
Hum Mol Genet; 2016 Sep; 25(18):4062-4079. PubMed ID: 27466185
[TBL] [Abstract][Full Text] [Related]
13. Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage.
Flønes IH; Fernandez-Vizarra E; Lykouri M; Brakedal B; Skeie GO; Miletic H; Lilleng PK; Alves G; Tysnes OB; Haugarvoll K; Dölle C; Zeviani M; Tzoulis C
Acta Neuropathol; 2018 Mar; 135(3):409-425. PubMed ID: 29270838
[TBL] [Abstract][Full Text] [Related]
14. Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
Distelmaier F; Koopman WJ; van den Heuvel LP; Rodenburg RJ; Mayatepek E; Willems PH; Smeitink JA
Brain; 2009 Apr; 132(Pt 4):833-42. PubMed ID: 19336460
[TBL] [Abstract][Full Text] [Related]
15. Mitochondrial complex I deficiency of nuclear origin I. Structural genes.
Pagniez-Mammeri H; Loublier S; Legrand A; Bénit P; Rustin P; Slama A
Mol Genet Metab; 2012 Feb; 105(2):163-72. PubMed ID: 22142868
[TBL] [Abstract][Full Text] [Related]
16. Primary fibroblasts of NDUFS4(-/-) mice display increased ROS levels and aberrant mitochondrial morphology.
Valsecchi F; Grefte S; Roestenberg P; Joosten-Wagenaars J; Smeitink JA; Willems PH; Koopman WJ
Mitochondrion; 2013 Sep; 13(5):436-43. PubMed ID: 23234723
[TBL] [Abstract][Full Text] [Related]
17. Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.
Leman G; Gueguen N; Desquiret-Dumas V; Kane MS; Wettervald C; Chupin S; Chevrollier A; Lebre AS; Bonnefont JP; Barth M; Amati-Bonneau P; Verny C; Henrion D; Bonneau D; Reynier P; Procaccio V
Int J Biochem Cell Biol; 2015 Aug; 65():91-103. PubMed ID: 26024641
[TBL] [Abstract][Full Text] [Related]
18. Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondria.
Koopman WJ; Distelmaier F; Hink MA; Verkaart S; Wijers M; Fransen J; Smeitink JA; Willems PH
Am J Physiol Cell Physiol; 2008 May; 294(5):C1124-32. PubMed ID: 18353897
[TBL] [Abstract][Full Text] [Related]
19. Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
Tort F; Barredo E; Parthasarathy R; Ugarteburu O; Ferrer-Cortès X; García-Villoria J; Gort L; González-Quintana A; Martín MA; Fernández-Vizarra E; Zeviani M; Ribes A
Mol Genet Metab; 2020 Nov; 131(3):349-357. PubMed ID: 33153867
[TBL] [Abstract][Full Text] [Related]
20. A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.
Assouline Z; Jambou M; Rio M; Bole-Feysot C; de Lonlay P; Barnerias C; Desguerre I; Bonnemains C; Guillermet C; Steffann J; Munnich A; Bonnefont JP; Rötig A; Lebre AS
Biochim Biophys Acta; 2012 Jun; 1822(6):1062-9. PubMed ID: 22326555
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
