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1

Defective Remodeling of Cardiolipin and Phosphatidylglycerol in Barth Syndrome

Peter Vreken, Fredoen Valianpour, Leo G. Nijtmans, Les A. Grivell, Barbara Plecko, Ronald J.A. Wanders, Peter G. Barth

Journal:

Biochemical and Biophysical Research Communications

Year:

2000

Language:

english

File:

PDF, 117 KB

english, 2000

2

37 Mitochondrial dynamics and function

Werner J.H. Koopman, Leo G. Nijtmans, Jan A.M. Smeitink, Peter H.G.M. Willems

Journal:

Year:

2010

Language:

english

File:

PDF, 45 KB

english, 2010

3

Identification and functional analysis of mitochondrial complex I assembly factor homologues in C. elegans

Daniela van den Ecker, Mariël A. van den Brand, Gerke Ariaans, Michael Hoffmann, Olaf Bossinger, Ertan Mayatepek, Leo G. Nijtmans, Felix Distelmaier

Journal:

Year:

2012

Language:

english

File:

PDF, 621 KB

english, 2012

4

Separation of intact pyruvate dehydrogenase complex using blue native agarose gel electrophoresis

Nadine S. Henderson, Leo G. J. Nijtmans, J. Gordon Lindsay, Eeleonora Lamantea, Massimo Zeviani, Ian J. Holt

Journal:

ELECTROPHORESIS

Year:

2000

Language:

english

File:

PDF, 245 KB

english, 2000

5

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations

Eva Morava, Richard J. Rodenburg, Frans Hol, Maaike de Vries, Antoon Janssen, Lambert van den Heuvel, Leo Nijtmans, Jan Smeitink

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 117 KB

english, 2006

6

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene

Cristina Ugalde, Ralf H. Triepels, Marieke J.H. Coenen, Lambert P. Van Den Heuvel, Roel Smeets, Johanna Uusimaa, Paz Briones, Jaume Campistol, Kari Majamaa, Jan A.M. Smeitink, Leo G.J. Nijtmans

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 335 KB

english, 2003

7

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene

Marieke J. H. Coenen, Lambert P. van den Heuvel, Cristina Ugalde, Marike ten Brinke, Leo G. J. Nijtmans, Frans J. M. Trijbels, Skadi Beblo, Esther M. Maier, Ania C. Muntau, Jan A. M. Smeitink

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 264 KB

english, 2004

8

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency

Saskia J.G. Hoefs, Cindy E.J. Dieteren, Richard J. Rodenburg, Karin Naess, Helene Bruhn, Rolf Wibom, Esther Wagena, Peter H. Willems, Jan A.M. Smeitink, Leo G. Nijtmans, Lambert P. van den Heuvel

Journal:

Year:

2009

Language:

english

File:

PDF, 246 KB

english, 2009

9

Blue native electrophoresis to study mitochondrial complex I in C. elegans

Daniela van den Ecker, Mariël A. van den Brand, Olaf Bossinger, Ertan Mayatepek, Leo G. Nijtmans, Felix Distelmaier

Journal:

Analytical Biochemistry

Year:

2010

Language:

english

File:

PDF, 240 KB

english, 2010

10

LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes

Hans J. C. T. Wessels, Rutger O. Vogel, Lambert van den Heuvel, Jan A. Smeitink, Richard J. Rodenburg, Leo G. Nijtmans, Murtada H. Farhoud

Journal:

Year:

2009

Language:

english

File:

PDF, 277 KB

english, 2009

11

New method for the accurate characterization of single human skeletal muscle fibres demonstrates a relation between mATPase and MyHC expression in pure and hybrid fibre types

José A. A. Sant' Ana Pereira, Andy Wessels, Leo Nijtmans, Antoon F. M. Moorman, Anthony J. Sargeant

Journal:

Journal of Muscle Research and Cell Motility

Year:

1995

Language:

english

File:

PDF, 2.66 MB

english, 1995

12

The reversal of cisplatin-protein interactions by the modulating agent WR2721 and its metabolites WR1065 and WR33278

Marco Treskes, Ulbe Holwerda, Leo G. J. Nijtmans, Herbert M. Pinedo, Wim J. F. Vijgh

Journal:

Cancer Chemotherapy and Pharmacology

Year:

1992

Language:

english

File:

PDF, 480 KB

english, 1992

13

Mitochondrial complex I: Structure, function and pathology

Rolf J. R. J. Janssen, Leo G. Nijtmans, Lambert P. van den Heuvel, Jan A. M. Smeitink

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 422 KB

english, 2006

14

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast

Emma L. Blakely, Anna L. Mitchell, Nicholas Fisher, Brigitte Meunier, Leo G. Nijtmans, Andrew M. Schaefer, Margaret J. Jackson, Douglass M. Turnbull, Robert W. Taylor

Journal:

Year:

2005

Language:

english

File:

PDF, 338 KB

english, 2005

15

Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects

Smits, Paulien, Mattijssen, Sandy, Morava, Eva, van den Brand, Mariël, van den Brandt, Frans, Wijburg, Frits, Pruijn, Ger, Smeitink, Jan, Nijtmans, Leo, Rodenburg, Richard

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 390 KB

english, 2009

16

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

Hoefs, Saskia J G, van Spronsen, Francjan J, Lenssen, Ellen W H, Nijtmans, Leo G, Rodenburg, Richard J, Smeitink, Jan A M, van den Heuvel, Lambert P

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 320 KB

english, 2010

17

A tRNA suppressor mutation in human mitochondria

Holt, Ian J., Jacobs, Howard T., Meziane, Abdellatif El, Lehtinen, Sanna K., Hance, Nicole, Nijtmans, Leo G. J., Dunbar, Donald

Journal:

Nature Genetics

Year:

1998

File:

PDF, 859 KB

1998

18

Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency

Murtada H. Farhoud, Leo G. Nijtmans, Ronald J. A. Wanders, Hans J. C. T. Wessels, Edwin Lasonder, Antoon J. M. Janssen, Richard R. J. Rodenburg, Lambert P. van den Heuvel, Jan A. M. Smeitink

Journal:

Year:

2012

Language:

english

File:

PDF, 1.35 MB

english, 2012

19

NDUFA2 Complex I Mutation Leads to Leigh Disease

Saskia J.G. Hoefs, Cindy E.J. Dieteren, Felix Distelmaier, Rolf J.R.J. Janssen, Andrea Epplen, Herman G.P. Swarts, Marleen Forkink, Richard J. Rodenburg, Leo G. Nijtmans, Peter H. Willems, Jan A.M. Sm

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 629 KB

english, 2008

20

A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

Merei Huigsloot, Leo G. Nijtmans, Radek Szklarczyk, Marieke J.H. Baars, Mariël A.M. van den Brand, Marthe G.M. HendriksFranssen, Lambertus P. van den Heuvel, Jan A.M. Smeitink, Martijn A. Huynen, Rich

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 493 KB

english, 2011

21

Defective mitochondrial translation differently affects the live cell dynamics of complex I subunits

Cindy E.J. Dieteren, Peter H.G.M. Willems, Herman G. Swarts, Jack Fransen, Jan A.M. Smeitink, Werner J.H. Koopman, Leo G.J. Nijtmans

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2011

Language:

english

File:

PDF, 1.07 MB

english, 2011

22

NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I

Radek Szklarczyk, Bas F.J. Wanschers, Sander B. Nabuurs, Jessica Nouws, Leo G. Nijtmans, Martijn A. Huynen

Journal:

Year:

2011

Language:

english

File:

PDF, 919 KB

english, 2011

23

Assembly of cytochrome-c oxidase in cultured human cells

Leo G. J. Nijtmans, Jan-Willem Taanman, Anton O. Muijsers, Dave Speijer, Coby Van den Bogert

Journal:

Year:

1998

Language:

english

File:

PDF, 432 KB

english, 1998

24

Human mitochondrial ATP-binding cassette transporter ABCB10 is required for efficient red blood cell development

Leilei Tang, Saskia M. Bergevoet, Greet Bakker-Verweij, Cornelis L. Harteveld, Piero C. Giordano, Leo Nijtmans, Theo de Witte, Joop H. Jansen, Reinier A. P. Raymakers, Bert A. van der Reijden

Journal:

British Journal of Haematology

Year:

2012

Language:

english

File:

PDF, 280 KB

english, 2012

25

SURFEIT-1 Gene Analysis and Two-Dimensional Blue Native Gel Electrophoresis in Cytochrome c Oxidase Deficiency

Marieke J.H. Coenen, Lambert P. van den Heuvel, Leo G.J. Nijtmans, Eva Morava, I. Marquardt, Hermann J. Girschick, Frans J.M. Trijbels, Leslie A. Grivell, Jan A.M. Smeitink

Journal:

Biochemical and Biophysical Research Communications

Year:

1999

Language:

english

File:

PDF, 81 KB

english, 1999

26

Effects of the modulating agent WR2721 and its main metabolites on the formation and stability of cisplatin-DNA adducts in vitro in comparison to the effects of thiosulphate and diethyldithiocarbamate

Marco Treskes, Leo G.J. Nijtmans, Anne Marie J. Fichtinger-Schepman, Wim J.F. van der Vijgh

Journal:

Biochemical Pharmacology

Year:

1992

Language:

english

File:

PDF, 791 KB

english, 1992

27

Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy

Leo G.J. Nijtmans, Peter G. Barth, Carsten R. Lincke, Mieke J.M. Van Galen, Rob Zwart, Petr Klement, Peeter A. Bolhuis, Wim Ruitenbeek, Ronald J.A. Wanders, Coby Van den Bogert

Journal:

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

Year:

1995

Language:

english

File:

PDF, 998 KB

english, 1995

28

Assembly of mitochondrial ATP synthase in cultured human cells: implications for mitochondrial diseases

Leo G.J. Nijtmans, Petr Klement, Josef Houštěk, Coby van den Bogert

Journal:

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

Year:

1995

Language:

english

File:

PDF, 1.39 MB

english, 1995

29

Superoxide production is inversely related to complex I activity in inherited complex I deficiency

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

Journal:

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

Year:

2007

Language:

english

File:

PDF, 370 KB

english, 2007

30

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome

Lock Hock Ngu, Leo G. Nijtmans, Felix Distelmaier, Hanka Venselaar, Sjenet E. van Emst-de Vries, Mariël A.M. van den Brand, Berendien J.M. Stoltenborg, Liesbeth T. Wintjes, Peter H. Willems, Lambertus

Journal:

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

Year:

2012

Language:

english

File:

PDF, 867 KB

english, 2012

31

Mitochondrial DNA replication and OXPHOS gene transcription show varied responsiveness to Rieske protein knockdown in 143B cells

Oksana Levanets, Fimmie Reinecke, Roan Louw, Pieter J. Pretorius, Lissinda H. du Plessis, Leo Nijtmans, Jan A.M. Smeitink, Francois H. van der Westhuizen

Journal:

Year:

2011

Language:

english

File:

PDF, 420 KB

english, 2011

32

Random Point Mutations with Major Effects on Protein-Coding Genes Are the Driving Force behind Premature Aging in mtDNA Mutator Mice

Daniel Edgar, Irina Shabalina, Yolanda Camara, Anna Wredenberg, Maria Antonietta Calvaruso, Leo Nijtmans, Jan Nedergaard, Barbara Cannon, Nils-Göran Larsson, Aleksandra Trifunovic

Journal:

Cell Metabolism

Year:

2009

Language:

english

File:

PDF, 875 KB

english, 2009

33

Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I

Jessica Nouws, Leo Nijtmans, Sander M. Houten, Mariël van den Brand, Martijn Huynen, Hanka Venselaar, Saskia Hoefs, Jolein Gloerich, Jonathan Kronick, Timothy Hutchin, Peter Willems, Richard Rodenburg

Journal:

Cell Metabolism

Year:

2010

Language:

english

File:

PDF, 1.60 MB

english, 2010

34

New mitochondrial tRNAHIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS)

Maria Antonietta Calvaruso, Michel A. Willemsen, Richard J. Rodenburg, Mariël van den Brand, Jan A.M. Smeitink, Leo Nijtmans

Journal:

Year:

2011

Language:

english

File:

PDF, 511 KB

english, 2011

35

Electrophoresis techniques to investigate defects in oxidative phosphorylation

Maria Antonietta Calvaruso, Jan Smeitink, Leo Nijtmans

Journal:

Year:

2008

Language:

english

File:

PDF, 520 KB

english, 2008

36

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh Syndrome

Cristina Ugalde, Reetta Hinttala, Sharita Timal, Roel Smeets, Richard J.T. Rodenburg, Johanna Uusimaa, Lambert P. van Heuvel, Leo G.J. Nijtmans, Kari Majamaa, Jan A.M. Smeitink

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 275 KB

english, 2007

37

Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients

Rutger O. Vogel, Mariël A.M. van den Brand, Richard J. Rodenburg, Lambert P.W.J. van den Heuvel, Makoto Tsuneoka, Jan A.M. Smeitink, Leo G.J. Nijtmans

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 674 KB

english, 2007

38

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies

Saskia J.G. Hoefs, Ola H. Skjeldal, Richard J. Rodenburg, Bård Nedregaard, Edwin P.M. van Kaauwen, Ute Spiekerkötter, Jürgen-Christoph von Kleist-Retzow, Jan A.M. Smeitink, Leo G. Nijtmans, Lambert P.

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 481 KB

english, 2010

39

Mitochondrial assembly in yeast

Les A Grivell, Marta Artal-Sanz, Gertjan Hakkaart, Liesbeth de Jong, Leo G.J Nijtmans, Katinka van Oosterum, Michel Siep, Hans van der Spek

Journal:

Year:

1999

Language:

english

File:

PDF, 205 KB

english, 1999

40

Blue Native electrophoresis to study mitochondrial and other protein complexes

Leo G.J Nijtmans, Nadine S Henderson, Ian J Holt

Journal:

Year:

2002

Language:

english

File:

PDF, 205 KB

english, 2002

41

New perspectives on the assembly process of mitochondrial respiratory chain complex cytochrome c oxidase

Cristina Ugalde, Marieke J.H Coenen, Murtada H Farhoud, Stefanie Gilinsky, Werner J.H Koopman, Lambert P van den Heuvel, Jan A.M Smeitink, Leo G.J Nijtmans

Journal:

Year:

2002

Language:

english

File:

PDF, 349 KB

english, 2002

42

Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochromecoxidase

Radek Szklarczyk, Bas FJ Wanschers, Thomas D Cuypers, John J Esseling, Moniek Riemersma, Mariël AM van den Brand, Jolein Gloerich, Edwin Lasonder, Lambert P van den Heuvel, Leo G Nijtmans, Martijn A H

Journal:

Year:

2012

Language:

english

File:

PDF, 880 KB

english, 2012

43

Human mitochondrial complex I assembly: A dynamic and versatile process

Rutger O. Vogel, Jan A.M. Smeitink, Leo G.J. Nijtmans

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2007

Language:

english

File:

PDF, 745 KB

english, 2007

44

Mitigation of NADH: Ubiquinone oxidoreductase deficiency by chronic Trolox treatment

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

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2008

Language:

english

File:

PDF, 492 KB

english, 2008

45

S12.20 Delayed assembly kinetics of respiratory chain complex i in cybrids harbouring primary LHON mutations

Rosa Pello, Valerio Carelli, Andrea Martinuzzi, Leo Nijtmans, Miguel A. Martín, Jan Smeitink, Joaquín Arenas, Cristina Ugalde

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2008

Language:

english

File:

PDF, 65 KB

english, 2008

46

S9/2 Cause and consequence of altered mitochondrial dynamics in mitochondrial complex I deficiency

Werner J.H. Koopman, Leo G. Nijtmans, Jan A.M. Smeitink, Peter H.G.M. Willems

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2008

Language:

english

File:

PDF, 74 KB

english, 2008

47

A structure for the yeast prohibitin complex: Structure prediction and evidence from chemical crosslinking and mass spectrometry

Jaap W. Back, Marta Artal Sanz, Luitzen de Jong, Leo J. de Koning, Leo G.J. Nijtmans, Chris G. de Koster, Les A. Grivell, Hans van der Spek, Anton O. Muijsers

Journal:

Protein Science

Year:

2002

Language:

english

File:

PDF, 168 KB

english, 2002

48

Mammalian Mitochondrial Complex I: Biogenesis, Regulation, and Reactive Oxygen Species Generation

Koopman, Werner J.H., Nijtmans, Leo G.J., Dieteren, Cindy E.J., Roestenberg, Peggy, Valsecchi, Federica, Smeitink, Jan A.M., Willems, Peter H.G.M.

Journal:

Antioxidants & Redox Signaling

Year:

2010

Language:

english

File:

PDF, 11.33 MB

english, 2010

49

Ribosome profiling reveals features of normal and disease-associated mitochondrial translation

Rooijers, Koos, Loayza-Puch, Fabricio, Nijtmans, Leo G., Agami, Reuven

Journal:

Nature Communications

Year:

2013

Language:

english

File:

PDF, 1.69 MB

english, 2013

50

Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

Baertling, Fabian, A.M. van den Brand, Mariel, Hertecant, Jozef L., Al-Shamsi, Aisha, P. van den Heuvel, Lambert, Distelmaier, Felix, Mayatepek, Ertan, Smeitink, Jan A., Nijtmans, Leo G.J., Rodenburg,

Journal:

Year:

2015

Language:

english

File:

PDF, 378 KB

english, 2015

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