Nijtmans, Leo G. J.: search on Z-Library

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51

[Topics in Current Genetics] Mitochondrial Function and Biogenesis Volume 8 || Function and dysfunction of the oxidative phosphorylation system

Nijtmans, Leo G.J.

Year:

2004

File:

PDF, 664 KB

2004

52

Encyclopedia of Life Sciences || Oxidative Phosphorylation System: Nuclear Genes and Genetic Disease

Year:

2001

Language:

english

File:

PDF, 258 KB

english, 2001

53

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins

Schwab, Marina A., Sauer, Sven W., Okun, Jürgen G., Nijtmans, Leo G. J., Rodenburg, Richard J. T., van den Heuvel, Lambert P., Dröse, Stefan, Brandt, Ulrich, Hoffmann, Georg F., Ter Laak, Henk, Kölker

Journal:

Biochemical Journal

Year:

2006

Language:

english

File:

PDF, 366 KB

english, 2006

54

Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly

Hornig-Do, Hue-Tran, Tatsuta, Takashi, Buckermann, Angela, Bust, Maria, Kollberg, Gittan, Rötig, Agnes, Hellmich, Martin, Nijtmans, Leo, Wiesner, Rudolf J

Journal:

The EMBO Journal

Year:

2012

Language:

english

File:

PDF, 2.35 MB

english, 2012

55

Cell Biological Consequences of Mitochondrial NADH: Ubiquinone Oxidoreductase Deficiency

Smeitink, Jan, van den Heuvel, Lambert, Koopman, Werner, Nijtmans, Leo, Ugalde, Cristina, Willems, Peter

Journal:

Current Neurovascular Research

Year:

2004

Language:

english

File:

PDF, 77 KB

english, 2004

56

Increased mitochondrial ATP production capacity in brain of healthy mice and a mouse model of isolated complex I deficiency after isoflurane anesthesia

Manjeri, Ganesh R., Rodenburg, Richard J., Blanchet, Lionel, Roelofs, Suzanne, Nijtmans, Leo G., Smeitink, Jan A., Driessen, Jacques J., Koopman, Werner J. H., Willems, Peter H.

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 488 KB

english, 2016

57

Mitochondrial Complex V Expression and Activity in Cystinotic Fibroblasts

Wilmer, Martijn J, van den Heuvel, Lambertus P, Rodenburg, Richard J, Vogel, Rutger O, Nijtmans, Leo G, Monnens, Leo A, Levtchenko, Elena N

Journal:

Pediatric Research

Year:

2008

Language:

english

File:

PDF, 309 KB

english, 2008

58

Unraveling the complexity of mitochondrial complex I assembly: A dynamic process

Sánchez-Caballero, Laura, Guerrero-Castillo, Sergio, Nijtmans, Leo

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2016

Language:

english

File:

PDF, 1.16 MB

english, 2016

59

Complex I assembly: a puzzling problem

Vogel, Rutger, Nijtmans, Leo, Ugalde, Cristina, van den Heuvel, Lambert, Smeitink, Jan

Journal:

Current Opinion in Neurology

Year:

2004

Language:

english

File:

PDF, 129 KB

english, 2004

60

Solute diffusion is hindered in the mitochondrial matrix

Cindy E. J. Dieteren, Stan C. A. M. Gielen, Leo G. J. Nijtmans, Jan A. M. Smeitink, Herman G. Swarts, Roland Brock, Peter H. G. M. Willems and Werner J. H. Koopman

Journal:

Proceedings of the National Academy of Sciences

Year:

2011

Language:

english

File:

PDF, 1.48 MB

english, 2011

61

The Assembly Pathway of Mitochondrial Respiratory Chain Complex I

Guerrero-Castillo, Sergio, Baertling, Fabian, Kownatzki, Daniel, Wessels, Hans J., Arnold, Susanne, Brandt, Ulrich, Nijtmans, Leo

Journal:

Cell Metabolism

Year:

2016

Language:

english

File:

PDF, 3.73 MB

english, 2016

62

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome

Baertling, Fabian, Sánchez-Caballero, Laura, Timal, Sharita, van den Brand, Mariël AM, Ngu, Lock Hock, Distelmaier, Felix, Rodenburg, Richard JT, Nijtmans, Leo GJ

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 555 KB

english, 2017

63

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

Baertling, Fabian, Al-Murshedi, Fathiya, Sánchez-Caballero, Laura, Al-Senaidi, Khalfan, Joshi, Niranjan P, Venselaar, Hanka, van den Brand, Mariël AM, Nijtmans, Leo GJ, Rodenburg, Richard JT

Journal:

Year:

2017

Language:

english

File:

PDF, 1.29 MB

english, 2017

64

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect

Baertling, Fabian, Sánchez-Caballero, Laura, van den Brand, Mariël A M, Wintjes, Liesbeth T, Brink, Maaike, van den Brandt, Frans A, Wilson, Callum, Rodenburg, Richard J T, Nijtmans, Leo G J

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 580 KB

english, 2017

65

A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant

Baertling, Fabian, Sánchez-Caballero, Laura, van den Brand, Mariël A.M., Distelmaier, Felix, Janssen, Mirian C.H., Rodenburg, Richard J.T., Smeitink, Jan A.M., Nijtmans, Leo G.J.

Journal:

The Journal of Pediatrics

Year:

2018

Language:

english

File:

PDF, 1.15 MB

english, 2018

66

Corrigendum to “Mitigation of NADH:ubiquinone oxidoreductase deficiency by chronic Trolox treatment” [Biochimica et Biophysica Acta 1777/7–8 (2008) 853–859]

Koopman, Werner J.H., Verkaart, Sjoerd, van Emst-de Vries, Sjenet E., Grefte, Sander, Smeitink, Jan A.M., Nijtmans, Leo G.J., Willems, Peter H.G.M.

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2018

Language:

english

File:

PDF, 127 KB

english, 2018

67

Corrigendum to âSuperoxide production is inversely related to complex I activity in inherited complex I deficiencyâ [Biochim Biophys Acta. 1772 (3) (2007) 373â381]

Verkaart, Sjoerd, Koopman, Werner J.H., van Emst-de Vries, Sjenet E., Nijtmans, Leo G.J., van den Heuvel, Lambertus W.P.J., Smeitink, Jan A.M., Willems, Peter H.G.M.

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2020

File:

PDF, 1.38 MB

2020

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