Leo Nijtmans

Leo Nijtmans

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Leo Nijtmans

Leo Nijtmans

Publications by authors named "Leo Nijtmans"

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

Biochim Biophys Acta Bioenerg 2018 12 6;1859(12):1328. Epub 2018 Jun 6.

Department of Biochemistry, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, The Netherlands; Microscopical Imaging Centre, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://dx.doi.org/10.1016/j.bbabio.2018.06.003DOI Listing
December 2018

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

J Pediatr 2018 05 13;196:309-313.e3. Epub 2018 Feb 13.

Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476173173
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http://dx.doi.org/10.1016/j.jpeds.2017.12.043DOI Listing
May 2018

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

Eur J Hum Genet 2017 11 30;25(11):1273-1277. Epub 2017 Aug 30.

Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2017.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643967PMC
November 2017

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

Hum Mutat 2017 06 23;38(6):692-703. Epub 2017 Mar 23.

Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.23210DOI Listing
June 2017

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.

Mol Genet Metab 2017 03 11;120(3):243-246. Epub 2016 Dec 11.

Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2016.12.005DOI Listing
March 2017

The Assembly Pathway of Mitochondrial Respiratory Chain Complex I.

Cell Metab 2017 01 6;25(1):128-139. Epub 2016 Oct 6.

OXPHOS Biogenesis Group, Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Center, Geert-Grooteplein Zuid 10, 6525 GA Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2016.09.002DOI Listing
January 2017

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

Biochim Biophys Acta 2016 Jul 1;1857(7):980-90. Epub 2016 Apr 1.

Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbabio.2016.03.031DOI Listing
July 2016

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

J Inherit Metab Dis 2016 Jan 27;39(1):59-65. Epub 2015 Aug 27.

Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 286 Biochemistry, P.O. Box 9101, NL-6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-015-9885-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4710641PMC
January 2016

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.

Hum Mutat 2015 Jan 18;36(1):34-8. Epub 2014 Nov 18.

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Centre, GA Nijmegen, The Netherlands; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany.

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http://doi.wiley.com/10.1002/humu.22715
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http://dx.doi.org/10.1002/humu.22715DOI Listing
January 2015

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.

Hum Mol Genet 2014 Dec 9;23(23):6356-65. Epub 2014 Jul 9.

Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, PO Box 9101, 6500HB Nijmegen, The Netherlands,

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http://dx.doi.org/10.1093/hmg/ddu357DOI Listing
December 2014

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

Nat Commun 2013 ;4:2886

1] Division of Gene Regulation, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX Amsterdam, The Netherlands [2].

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http://dx.doi.org/10.1038/ncomms3886DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863897PMC
October 2014

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.

PLoS Genet 2013 26;9(12):e1004034. Epub 2013 Dec 26.

Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia ; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1371/journal.pgen.1004034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873243PMC
August 2014

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Eur J Hum Genet 2014 Jul 21;22(7):888-95. Epub 2013 Aug 21.

1] Department of Pediatrics, Institute for Metabolic and Genetic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands [2] Hayward Genetics Center, Tulane University Medical Center, New Orleans, LA, USA.

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http://dx.doi.org/10.1038/ejhg.2013.154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060105PMC
July 2014

Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling.

PLoS One 2013 23;8(7):e68340. Epub 2013 Jul 23.

Department of Laboratory Medicine, Laboratory of Genetic Endocrine and Metabolic Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0068340PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720734PMC
March 2014

ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies.

Hum Mol Genet 2014 Mar 24;23(5):1311-9. Epub 2013 Oct 24.

Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddt521DOI Listing
March 2014

A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment.

JIMD Rep 2014 31;12:37-45. Epub 2013 Aug 31.

Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics, Radboud University Medical Centre, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/8904_2013_242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897792PMC
January 2014

BOLA1 is an aerobic protein that prevents mitochondrial morphology changes induced by glutathione depletion.

Antioxid Redox Signal 2013 Jan 11;18(2):129-38. Epub 2012 Sep 11.

Department of Biochemistry, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1089/ars.2011.4253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3513987PMC
January 2013

Subunit-specific incorporation efficiency and kinetics in mitochondrial complex I homeostasis.

J Biol Chem 2012 Dec 4;287(50):41851-60. Epub 2012 Oct 4.

Department of Biochemistry, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1074/jbc.M112.391151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3516733PMC
December 2012

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

Mitochondrion 2012 May 22;12(3):399-405. Epub 2012 Feb 22.

Department of General Pediatrics and Neonatology, University Children's Hospital, Heinrich-Heine-University, Düsseldorf, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S156772491200025
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http://dx.doi.org/10.1016/j.mito.2012.01.003DOI Listing
May 2012

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

Biochim Biophys Acta 2012 Feb 20;1822(2):168-75. Epub 2011 Oct 20.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2011.10.012DOI Listing
February 2012

Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity.

Hum Mol Genet 2012 Jan 28;21(1):115-20. Epub 2011 Sep 28.

Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics, Radboud University Nijmegen Medical Centre, HB 6500 Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddr446DOI Listing
January 2012

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.

Brain 2012 Jan 27;135(Pt 1):12-22. Epub 2011 Oct 27.

Nijmegen Centre for Mitochondrial Disorders at the Department of Paediatrics, Radboud University Nijmegen Medical Centre, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/brain/awr261DOI Listing
January 2012

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

Biochim Biophys Acta 2011 Dec 24;1807(12):1624-33. Epub 2011 Sep 24.

Department of Biochemistry, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S000527281100223
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http://dx.doi.org/10.1016/j.bbabio.2011.09.013DOI Listing
December 2011

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.

J Med Genet 2011 Nov 26;48(11):737-40. Epub 2011 May 26.

Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1136/jmg.2011.088856DOI Listing
November 2011

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

Mitochondrion 2011 Sep 17;11(5):778-82. Epub 2011 Jun 17.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.mito.2011.06.004DOI Listing
September 2011

TEFM (c17orf42) is necessary for transcription of human mtDNA.

Nucleic Acids Res 2011 May 28;39(10):4284-99. Epub 2011 Jan 28.

MRC Mitochondrial Biology Unit, Wellcome Trust/MRC Building, Hills Road, Cambridge CB2 0XY, UK.

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http://dx.doi.org/10.1093/nar/gkq1224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3105396PMC
May 2011

Solute diffusion is hindered in the mitochondrial matrix.

Proc Natl Acad Sci U S A 2011 May 9;108(21):8657-62. Epub 2011 May 9.

Department of Biochemistry, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, PO Box 9101, NL-6500 HB Nijmegen, The Netherlands.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1017581108
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http://dx.doi.org/10.1073/pnas.1017581108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102363PMC
May 2011

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.

Am J Hum Genet 2011 Apr 31;88(4):488-93. Epub 2011 Mar 31.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Centre, PO Box 9101, NL-6500HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2011.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071910PMC
April 2011

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

Eur J Hum Genet 2011 Mar 8;19(3):270-4. Epub 2010 Dec 8.

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2010.204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061993PMC
March 2011

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

FEBS Lett 2011 Mar 22;585(5):737-43. Epub 2011 Feb 22.

Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen Medical Centre, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.febslet.2011.01.046DOI Listing
March 2011

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

Anal Biochem 2010 Dec 10;407(2):287-9. Epub 2010 Aug 10.

Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University, Düsseldorf, Germany.

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http://dx.doi.org/10.1016/j.ab.2010.08.009DOI Listing
December 2010

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

Mol Genet Metab 2010 Jul 21;100(3):251-6. Epub 2010 Mar 21.

Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2010.03.015DOI Listing
July 2010

Mammalian mitochondrial complex I: biogenesis, regulation, and reactive oxygen species generation.

Antioxid Redox Signal 2010 Jun;12(12):1431-70

Department of Biochemistry, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1089/ars.2009.2743DOI Listing
June 2010

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

Eur J Hum Genet 2010 Mar 7;18(3):324-9. Epub 2009 Oct 7.

Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2009.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987211PMC
March 2010

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.

Hum Mol Genet 2009 Sep 12;18(18):3365-74. Epub 2009 Jun 12.

Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddp276DOI Listing
September 2009

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

Proteomics 2009 Sep;9(17):4221-8

Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/pmic.200900157DOI Listing
September 2009

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

Hum Mutat 2009 Jul;30(7):E728-36

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.21037DOI Listing
July 2009

Chapter 7 Tracing human mitochondrial complex I assembly by use of GFP-tagged subunits.

Methods Enzymol 2009 ;456:133-51

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/S0076-6879(08)04407-8DOI Listing
June 2009

Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells.

J Biol Chem 2008 Dec 30;283(50):34753-61. Epub 2008 Sep 30.

Department of Biochemistry, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M807323200
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http://dx.doi.org/10.1074/jbc.M807323200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3259887PMC
December 2008

Electrophoresis techniques to investigate defects in oxidative phosphorylation.

Methods 2008 Dec 21;46(4):281-7. Epub 2008 Oct 21.

Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics, Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ymeth.2008.09.023DOI Listing
December 2008

Mitochondrial complex V expression and activity in cystinotic fibroblasts.

Pediatr Res 2008 Nov;64(5):495-7

Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, 6500 HB, The Netherlands.

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http://dx.doi.org/10.1203/PDR.0b013e318183fd67DOI Listing
November 2008

Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment.

Biochim Biophys Acta 2008 Jul-Aug;1777(7-8):853-9. Epub 2008 Apr 8.

Department of Biochemistry, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://dx.doi.org/10.1016/j.bbabio.2008.03.028DOI Listing
August 2008

NDUFA2 complex I mutation leads to Leigh disease.

Am J Hum Genet 2008 Jun;82(6):1306-15

Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen 6500 HB, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2008.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427319PMC
June 2008

Human mitochondrial complex I assembly: a dynamic and versatile process.

Biochim Biophys Acta 2007 Oct 9;1767(10):1215-27. Epub 2007 Aug 9.

Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Centre, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S000527280700173
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http://dx.doi.org/10.1016/j.bbabio.2007.07.008DOI Listing
October 2007

Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?

Am J Physiol Cell Physiol 2007 Jul 11;293(1):C22-9. Epub 2007 Apr 11.

Department of Membrane Biochemistry, Radboud University Nijmegen Medical Centre, P.O. Box 9101, NL-6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1152/ajpcell.00194.2006DOI Listing
July 2007

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

Mol Genet Metab 2007 Jun 26;91(2):176-82. Epub 2007 Mar 26.

Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, Radboud University Nijmegen Medical Centre, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2007.02.007DOI Listing
June 2007

Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits.

J Biol Chem 2007 Mar 5;282(10):7582-90. Epub 2007 Jan 5.

Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M609410200
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http://dx.doi.org/10.1074/jbc.M609410200DOI Listing
March 2007

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

Biochim Biophys Acta 2007 Mar 4;1772(3):373-81. Epub 2007 Jan 4.

Department of Membrane Biochemistry, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2006.12.009DOI Listing
March 2007

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

Mol Genet Metab 2007 Jan 22;90(1):10-4. Epub 2006 Sep 22.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Center, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192060028
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http://dx.doi.org/10.1016/j.ymgme.2006.08.003DOI Listing
January 2007

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

Biochem J 2006 Aug;398(1):107-12

Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 150, D-69120 Heidelberg, Germany.

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http://dx.doi.org/10.1042/BJ20060221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1525008PMC
August 2006

Mitochondrial complex I: structure, function and pathology.

J Inherit Metab Dis 2006 Aug 11;29(4):499-515. Epub 2006 Jul 11.

Nijmegen Centre for Mitochondrial Disorders, Laboratory of Paediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-006-0362-4DOI Listing
August 2006

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

Am J Med Genet A 2006 Apr;140(8):863-8

Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.31194DOI Listing
April 2006

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

FEBS J 2005 Jul;272(14):3583-92

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1111/j.1742-4658.2005.04779.xDOI Listing
July 2005

Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.

Hum Mol Genet 2004 Oct 18;13(20):2461-72. Epub 2004 Aug 18.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center Nijmegen, Geert Grooteplein 10, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://academic.oup.com/hmg/article/13/20/2461/590811/Human-
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http://dx.doi.org/10.1093/hmg/ddh262DOI Listing
October 2004

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

Ann Neurol 2004 Oct;56(4):560-4

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ana.20229DOI Listing
October 2004

Complex I assembly: a puzzling problem.

Curr Opin Neurol 2004 Apr;17(2):179-86

Nijmegen Centre for Mitochondrial Disorders at the Department of Paediatrics, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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April 2004

Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.

Hum Mol Genet 2004 Mar 28;13(6):659-67. Epub 2004 Jan 28.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddh071DOI Listing
March 2004

Cell biological consequences of mitochondrial NADH: ubiquinone oxidoreductase deficiency.

Curr Neurovasc Res 2004 Jan;1(1):29-40

Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, University Medical Center Nijmegen, The Netherlands.

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January 2004

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

Ann Neurol 2003 Nov;54(5):665-9

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1002/ana.10734
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http://dx.doi.org/10.1002/ana.10734DOI Listing
November 2003

The mitochondrial prohibitin complex is essential for embryonic viability and germline function in Caenorhabditis elegans.

J Biol Chem 2003 Aug 6;278(34):32091-9. Epub 2003 Jun 6.

Swammerdam Institute for Life Sciences, Section for Molecular Biology, University of Amsterdam, Kruislaan 318, Amsterdam 1098 SM, The Netherlands.

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http://dx.doi.org/10.1074/jbc.M304877200DOI Listing
August 2003

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

Mitochondrion 2002 Nov;2(1-2):117-28

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, University Medical Centre Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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November 2002

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

Protein Sci 2002 Oct;11(10):2471-8

Swammerdam Institute for Life Sciences (SILS)-Mass Spectrometry Group, University of Amsterdam, Nieuwe Achtergracht 166, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2373692PMC
http://dx.doi.org/10.1110/ps.0212602DOI Listing
October 2002

Blue Native electrophoresis to study mitochondrial and other protein complexes.

Methods 2002 Apr;26(4):327-34

Nijmegen Centre for Mitochondrial Disorders, University Medical Centre Nijmegen, Geert Grooteplein 10, PO BOX 9101, 6500 HB Nijmegen, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S104620230200038
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http://dx.doi.org/10.1016/S1046-2023(02)00038-5DOI Listing
April 2002