Publications by authors named "Jan A M Smeitink"

100Publications

NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4 mice and Leigh syndrome patients: A stabilizing role for NDUFAF2.

Biochim Biophys Acta Bioenerg 2020 08 23;1861(8):148213. Epub 2020 Apr 23.

Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Radboud Center for Mitochondrial Medicine, Radboudumc, Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2020.148213DOI Listing
August 2020

Psychological functioning in children suspected for mitochondrial disease: the need for care.

Orphanet J Rare Dis 2020 03 24;15(1):76. Epub 2020 Mar 24.

Radboud Institute for Health Sciences, Department of Medical Psychology, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, P.O. Box 9101, 6500HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1186/s13023-020-1342-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7092429PMC
March 2020

Effects of clofibrate and KH176 on life span and motor function in mitochondrial complex I-deficient mice.

Biochim Biophys Acta Mol Basis Dis 2020 06 15;1866(6):165727. Epub 2020 Feb 15.

Department of Pharmacology and Toxicology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2020.165727DOI Listing
June 2020

Brothers in Arms: ABCA1- and ABCG1-Mediated Cholesterol Efflux as Promising Targets in Cardiovascular Disease Treatment.

Pharmacol Rev 2020 01;72(1):152-190

Department of Pharmacology and Toxicology, Radboud Institute for Molecular Life Sciences (S.J.C.M.F., G.A.R., F.G.M.R., T.J.J.S.), Radboud Center for Mitochondrial Medicine (S.J.C.M.F., R.d.H., J.A.M.S., F.G.M.R., T.J.J.S.), Department of Pediatrics (R.d.H., J.A.M.S.), and Department of Internal Medicine, Radboud Institute for Health Sciences (G.A.R.), Radboud University Medical Center, Nijmegen, The Netherlands

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http://dx.doi.org/10.1124/pr.119.017897DOI Listing
January 2020

Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature.

Clin Kidney J 2019 Dec 21;12(6):840-846. Epub 2019 Apr 21.

Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center Amalia Children's Hospital, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/ckj/sfz020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885678PMC
December 2019

To be or not to be pink(1): contradictory findings in an animal model for Parkinson's disease.

Brain Commun 2019 13;1(1):fcz016. Epub 2019 Sep 13.

Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/braincomms/fcz016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6798789PMC
September 2019

A Mitochondrial Complex I Deficiency Phenotype Array.

Front Genet 2019 27;10:245. Epub 2019 Mar 27.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.

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https://www.frontiersin.org/article/10.3389/fgene.2019.00245
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http://dx.doi.org/10.3389/fgene.2019.00245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445954PMC
March 2019

Octa-arginine boosts the penetration of elastin-like polypeptide nanoparticles in 3D cancer models.

Eur J Pharm Biopharm 2019 Apr 15;137:175-184. Epub 2019 Feb 15.

Department of Biochemistry, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpb.2019.02.010DOI Listing
April 2019

Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation.

Mol Genet Genomic Med 2019 02 4;7(2):e00523. Epub 2018 Dec 4.

Department of Pediatrics, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393655PMC
February 2019

Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD

Cell Death Dis 2018 11 14;9(11):1135. Epub 2018 Nov 14.

Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Radboud Center for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41419-018-1179-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235972PMC
November 2018

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

Feeding difficulties, a key feature of the NDUFS4 mitochondrial disease model.

Dis Model Mech 2018 03 27;11(3). Epub 2018 Mar 27.

Khondrion BV, Philips van Leydenlaan 15, 6525 EX, Nijmegen, The Netherlands

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http://dx.doi.org/10.1242/dmm.032482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897729PMC
March 2018

A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS).

Mitochondrion 2019 03 19;45:38-45. Epub 2018 Feb 19.

Mitochondria Research Laboratory, Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2018.02.003DOI Listing
March 2019

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

Statins Affect Skeletal Muscle Performance: Evidence for Disturbances in Energy Metabolism.

J Clin Endocrinol Metab 2018 01;103(1):75-84

Department of Physiology, Radboud University Medical Center, Nijmegen, Netherlands.

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http://dx.doi.org/10.1210/jc.2017-01561DOI Listing
January 2018

Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy.

J Neurol Sci 2017 Aug 30;379:137-143. Epub 2017 May 30.

Department of Neurology, Peking University First Hospital, Beijing, China. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.05.056DOI Listing
August 2017

Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach.

JIMD Rep 2017 17;36:7-17. Epub 2017 Jan 17.

Department of Paediatrics, Radboud Center for Mitochondrial Medicine (RCMM), Radboud University Medical Center, PO BOX 9101, Geert Grooteplein 10, Nijmegen, 6500 HB, The Netherlands.

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http://dx.doi.org/10.1007/8904_2016_35DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680282PMC
January 2017

Acute stimulation of glucose influx upon mitoenergetic dysfunction requires LKB1, AMPK, Sirt2 and mTOR-RAPTOR.

J Cell Sci 2016 12 28;129(23):4411-4423. Epub 2016 Oct 28.

Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500HB, Nijmegen, The Netherlands

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http://dx.doi.org/10.1242/jcs.194480DOI Listing
December 2016

Multiplexed high-content analysis of mitochondrial morphofunction using live-cell microscopy.

Nat Protoc 2016 09 18;11(9):1693-710. Epub 2016 Aug 18.

Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1038/nprot.2016.094DOI Listing
September 2016

Three families with 'de novo' m.3243A > G mutation.

BBA Clin 2016 Dec 29;6:19-24. Epub 2016 Apr 29.

Radboud University Medical Center Amalia Children's Hospital, Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbacli.2016.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900294PMC
December 2016

International Paediatric Mitochondrial Disease Scale.

J Inherit Metab Dis 2016 09 9;39(5):705-712. Epub 2016 Jun 9.

Radboudn Center for Mitochondrial Medicine at the Department of Paediatrics, Radboudumc, Geert Grooteplein 10. 6500 HB, PO BOX 9101, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-016-9948-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987390PMC
September 2016

Assisted 6-minute cycling test: An exploratory study in children.

Muscle Nerve 2016 08 13;54(2):232-8. Epub 2016 Jun 13.

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

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http://dx.doi.org/10.1002/mus.25021DOI Listing
August 2016

Obstetric complications in carriers of the m.3243A>G mutation, a retrospective cohort study on maternal and fetal outcome.

Mitochondrion 2015 Nov 9;25:98-103. Epub 2015 Oct 9.

Radboudumc Amalia Children's Hospital, Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Nijmegen, The Netherlands; Radboudumc, Department of Internal Medicine, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.mito.2015.10.005DOI Listing
November 2015

Mitochondrial ADP/ATP exchange inhibition: a novel off-target mechanism underlying ibipinabant-induced myotoxicity.

Sci Rep 2015 Sep 29;5:14533. Epub 2015 Sep 29.

Department of Pharmacology and Toxicology, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.

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http://dx.doi.org/10.1038/srep14533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4586513PMC
September 2015

Statin Lactonization by Uridine 5'-Diphospho-glucuronosyltransferases (UGTs).

Mol Pharm 2015 Nov 6;12(11):4048-55. Epub 2015 Oct 6.

Department of Pharmacology and Toxicology, Radboud University Medical Center , 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1021/acs.molpharmaceut.5b00474DOI Listing
November 2015

Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition.

Cell Metab 2015 Sep;22(3):399-407

Department of Pharmacology and Toxicology, Radboud University Medical Center, Nijmegen 6500HB, the Netherlands; Center for Systems Biology and Bioenergetics, Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Center, Nijmegen 6500HB, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2015.08.002DOI Listing
September 2015

Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers.

JIMD Rep 2015 13;24:69-81. Epub 2015 May 13.

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Amalia Children's Hospital, Radboudumc, Geert Grooteplein 10, 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/8904_2015_436DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582022PMC
September 2015

Skeletal muscle mitochondria of NDUFS4-/- mice display normal maximal pyruvate oxidation and ATP production.

Biochim Biophys Acta 2015 Jun-Jul;1847(6-7):526-33. Epub 2015 Feb 14.

Department of Biochemistry, RIMLS, Radboud University Medical Center, Nijmegen, The Netherlands; Centre for Systems Biology and Bioenergetics, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2015.02.006DOI Listing
August 2015

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease.

J Inherit Metab Dis 2015 May 17;38(3):467-75. Epub 2015 Feb 17.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Moorenstr. 5, D-40225, Düsseldorf, Germany.

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http://link.springer.com/content/pdf/10.1007/s10545-014-9796
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http://link.springer.com/10.1007/s10545-014-9796-2
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http://dx.doi.org/10.1007/s10545-014-9796-2DOI Listing
May 2015

Toward high-content screening of mitochondrial morphology and membrane potential in living cells.

Int J Biochem Cell Biol 2015 Jun 8;63:66-70. Epub 2015 Feb 8.

Khondrion BV, Nijmegen, The Netherlands; Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2015.01.020DOI Listing
June 2015

Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.

Sci Rep 2015 Jan 26;5:8035. Epub 2015 Jan 26.

1] Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, NL-6500 HB Nijmegen, The Netherlands [2] Centre for Systems Biology and Bioenergetics, Radboud University Medical Center, Nijmegen, The Netherlands [3] Khondrion BV, Philips van Leydenlaan 15, 6525EX Nijmegen, The Netherlands.

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http://www.nature.com/articles/srep08035
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http://dx.doi.org/10.1038/srep08035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306129PMC
January 2015

Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α.

Biochim Biophys Acta 2015 Mar 20;1852(3):529-40. Epub 2014 Dec 20.

Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2014.12.012DOI Listing
March 2015

A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy.

Neuromuscul Disord 2015 Mar 13;25(3):262-7. Epub 2014 Nov 13.

Nijmegen Centre for Mitochondrial Disorders (NCMD), Amalia Children's Hospital, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.11.002DOI Listing
March 2015

Photo-induction and automated quantification of reversible mitochondrial permeability transition pore opening in primary mouse myotubes.

PLoS One 2014 25;9(11):e114090. Epub 2014 Nov 25.

Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Centre for Systems Biology and Bioenergetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0114090PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4244163PMC
January 2016

High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders.

J Inherit Metab Dis 2015 May 11;38(3):477-82. Epub 2014 Oct 11.

Nijmegen Centre for Mitochondrial Disorders (NCMD) at the Amalia Children's Hospital, Radboudumc, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-014-9773-9DOI Listing
May 2015

Serum FGF21 levels in adult m.3243A>G carriers: clinical implications.

Neurology 2014 Jul 6;83(2):125-33. Epub 2014 Jun 6.

From the Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders (S.K., P.d.L., R.J.T.R., M.C.H.J., J.A.M.S.), and Departments of Laboratory Medicine (D.H.v.T., A.M.B., F.C.G.J.S.), Radiology and Nuclear Medicine (D.V.), Health Evidence (A.R.T.D.), and General Internal Medicine (M.C.H.J.), Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000000578DOI Listing
July 2014

Mitochondrial hyperpolarization during chronic complex I inhibition is sustained by low activity of complex II, III, IV and V.

Biochim Biophys Acta 2014 Aug 24;1837(8):1247-56. Epub 2014 Apr 24.

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

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http://dx.doi.org/10.1016/j.bbabio.2014.04.008DOI Listing
August 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

Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.

Ophthalmology 2013 Dec 24;120(12):2684-2696. Epub 2013 Jun 24.

Radboud University Nijmegen Medical Centre, Institute of Ophthalmology, Nijmegen, The Netherlands; Nuffield Laboratory of Ophthalmology and Oxford Eye Hospital Biomedical Research Centre, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2013.05.013DOI Listing
December 2013

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.

Brain 2013 May 18;136(Pt 5):1544-54. Epub 2013 Apr 18.

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

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http://dx.doi.org/10.1093/brain/awt086DOI Listing
May 2013

Towards the harmonization of outcome measures in children with mitochondrial disorders.

Dev Med Child Neurol 2013 Aug 12;55(8):698-706. Epub 2013 Mar 12.

Department of Paediatrics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Geert Grooteplein 10, Nijmegen, the Netherlands.

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http://doi.wiley.com/10.1111/dmcn.12119
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http://dx.doi.org/10.1111/dmcn.12119DOI Listing
August 2013

Inheritance of the m.3243A>G mutation.

JIMD Rep 2013 6;8:47-50. Epub 2012 Jul 6.

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

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http://dx.doi.org/10.1007/8904_2012_159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565654PMC
February 2013

Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit.

IUBMB Life 2013 Mar 3;65(3):202-8. Epub 2013 Feb 3.

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

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http://dx.doi.org/10.1002/iub.1127DOI Listing
March 2013

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

J Inherit Metab Dis 2013 Nov 25;36(6):913-21. Epub 2013 Jan 25.

Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics and the Institute of Genetic and Metabolic Disease (IGMD), Radboud University Medical Centre, P.O Box 9101, 6500 HB, Nijmegen, The Netherlands,

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http://doi.wiley.com/10.1007/s10545-012-9579-6
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http://dx.doi.org/10.1007/s10545-012-9579-6DOI Listing
November 2013

A novel mutation in COQ2 leading to fatal infantile multisystem disease.

J Neurol Sci 2013 Mar 21;326(1-2):24-8. Epub 2013 Jan 21.

Laboratory of Clinical Chemistry and Hematology, St. Elisabeth Hospital, Tilburg, The Netherlands.

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http://dx.doi.org/10.1016/j.jns.2013.01.004DOI Listing
March 2013

Primary fibroblasts of NDUFS4(-/-) mice display increased ROS levels and aberrant mitochondrial morphology.

Mitochondrion 2013 Sep 9;13(5):436-43. Epub 2012 Dec 9.

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

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http://dx.doi.org/10.1016/j.mito.2012.12.001DOI Listing
September 2013

Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?

Mitochondrion 2013 Jan 17;13(1):15-24. Epub 2012 Nov 17.

Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Geert Grooteplein 10, 6500 HB, P.O. Box 9101 Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.mito.2012.11.002DOI Listing
January 2013

OXPHOS mutations and neurodegeneration.

EMBO J 2013 Jan 13;32(1):9-29. Epub 2012 Nov 13.

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

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http://emboj.embopress.org/cgi/doi/10.1038/emboj.2012.300
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http://dx.doi.org/10.1038/emboj.2012.300DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3545297PMC
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

Molecular base of biochemical complex I deficiency.

Mitochondrion 2012 Sep 20;12(5):520-32. Epub 2012 Jul 20.

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/j.mito.2012.07.106DOI Listing
September 2012

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

Eur J Med Genet 2012 Oct 7;55(10):552-6. Epub 2012 Jul 7.

Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics and the Institute of Genetic and Metabolic Disease, Radboud University Medical Centre, PO Box 9101, Huispost 804, Postbus 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2012.06.002DOI Listing
October 2012

Trolox-sensitive reactive oxygen species regulate mitochondrial morphology, oxidative phosphorylation and cytosolic calcium handling in healthy cells.

Antioxid Redox Signal 2012 Dec 13;17(12):1657-69. Epub 2012 Jun 13.

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.2011.4294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3474189PMC
December 2012

Monogenic mitochondrial disorders.

N Engl J Med 2012 Mar;366(12):1132-41

Department of Biochemistry, Nijmegen Center for Molecular Life Sciences, Nijmegen, The Netherlands.

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http://www.nejm.org/doi/abs/10.1056/NEJMra1012478
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http://dx.doi.org/10.1056/NEJMra1012478DOI Listing
March 2012

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.

J Inherit Metab Dis 2012 Nov 9;35(6):1059-69. Epub 2012 Mar 9.

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Huispost 804, Geert Grooteplein 10, 6500, HB, PO BOX 9101, Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1007/s10545-012-9465-2
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3470685PMC
November 2012

Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters.

Curr Pharm Des 2011 Dec;17(36):4023-33

Department of Analytical Chemistry, Institute for Molecules and Materials, Radboud University, Nijmegen, The Netherlands.

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http://dx.doi.org/10.2174/138161211798764870DOI Listing
December 2011

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://dx.doi.org/10.1016/j.bbabio.2011.09.013DOI Listing
December 2011

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.

Mitochondrion 2011 Nov 14;11(6):954-63. Epub 2011 Sep 14.

Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Laboratory for Genetic, Endocrine, and Metabolic Disorders, Radboud University Nijmegen Medical Center, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.mito.2011.08.012DOI Listing
November 2011

Mitochondrial ATP synthase: architecture, function and pathology.

J Inherit Metab Dis 2012 Mar 27;35(2):211-25. Epub 2011 Aug 27.

Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, 656 Laboratory for Genetic, Endocrine, and Metabolic Disorders, Radboud University Nijmegen Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-011-9382-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278611PMC
March 2012

Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond.

Mitochondrion 2012 Jan 2;12(1):57-65. Epub 2011 Jul 2.

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/10.1016/j.mito.2011.06.011DOI Listing
January 2012

Modeling mitochondrial dysfunctions in the brain: from mice to men.

J Inherit Metab Dis 2012 Mar 14;35(2):193-210. Epub 2011 Jul 14.

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/10.1007/s10545-011-9375-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278625PMC
March 2012

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

Quantitative glucose and ATP sensing in mammalian cells.

Pharm Res 2011 Nov 21;28(11):2745-57. Epub 2011 Jun 21.

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

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November 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.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

Complex I disorders: causes, mechanisms, and development of treatment strategies at the cellular level.

Dev Disabil Res Rev 2010 ;16(2):175-82

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/10.1002/ddrr.107DOI Listing
January 2011

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

Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency.

J Inherit Metab Dis 2011 Apr 27;34(2):293-307. Epub 2010 Jan 27.

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

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April 2011

Detection and manipulation of mitochondrial reactive oxygen species in mammalian cells.

Biochim Biophys Acta 2010 Jun-Jul;1797(6-7):1034-44. Epub 2010 Jan 25.

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/10.1016/j.bbabio.2010.01.022DOI Listing
January 2011

High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders.

Clin Chem 2010 Mar 31;56(3):424-31. Epub 2009 Dec 31.

Laboratory of Pediatrics and Neurology, Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1373/clinchem.2009.131441DOI Listing
March 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

Mitochondrial dynamics in human NADH:ubiquinone oxidoreductase deficiency.

Int J Biochem Cell Biol 2009 Oct 28;41(10):1773-82. Epub 2009 Jan 28.

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

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October 2009

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

OXPHOS gene expression and control in mitochondrial disorders.

Biochim Biophys Acta 2009 Dec 21;1792(12):1113-21. Epub 2009 Apr 21.

Centre for Human Metabonomics, School for Physical and Chemical Sciences, North-West University, Hoffman street, Potchefstroom 2531, South Africa.

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http://dx.doi.org/10.1016/j.bbadis.2009.04.003DOI Listing
December 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

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

Brain 2009 Apr 31;132(Pt 4):833-42. Epub 2009 Mar 31.

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

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http://dx.doi.org/10.1093/brain/awp058DOI Listing
April 2009

The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency.

J Mol Med (Berl) 2009 May 3;87(5):515-22. Epub 2009 Mar 3.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2836243PMC
May 2009

Mitochondrial energy production correlates with the age-related BMI.

Pediatr Res 2009 Jan;65(1):103-8

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

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http://dx.doi.org/10.1203/PDR.0b013e31818d1c8aDOI Listing
January 2009

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Brain 2009 Jan 16;132(Pt 1):136-46. Epub 2008 Nov 16.

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

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http://dx.doi.org/10.1093/brain/awn296DOI Listing
January 2009

Computer-assisted live cell analysis of mitochondrial membrane potential, morphology and calcium handling.

Methods 2008 Dec 16;46(4):304-11. Epub 2008 Oct 16.

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

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http://dx.doi.org/10.1016/j.ymeth.2008.09.018DOI Listing
December 2008

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://www.ncbi.nlm.nih.gov/pmc/articles/PMC3259887PMC
December 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

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

Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondria.

Am J Physiol Cell Physiol 2008 May 19;294(5):C1124-32. Epub 2008 Mar 19.

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

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http://dx.doi.org/10.1152/ajpcell.00079.2008DOI Listing
May 2008