Publications by authors named "Jan Smeitink"

100Publications

Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant.

J Med Genet 2020 May 21. Epub 2020 May 21.

Department of Internal Medicine, Radboudumc, Nijmegen, The Netherlands

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http://dx.doi.org/10.1136/jmedgenet-2019-106800DOI Listing
May 2020

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

ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV.

Brain Dev 2019 Nov 16;41(10):883-887. Epub 2019 Jul 16.

Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2019.07.003DOI Listing
November 2019

A fatal case of -associated primary coenzyme Q deficiency.

JIMD Rep 2019 May 3;47(1):23-29. Epub 2019 Apr 3.

Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine Queen Mary Hospital, The University of Hong Kong Hong Kong SAR China.

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http://dx.doi.org/10.1002/jmd2.12032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498831PMC
May 2019

Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients.

JIMD Rep 2019 Mar 14;46(1):52-62. Epub 2019 Mar 14.

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

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http://dx.doi.org/10.1002/jmd2.12017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498836PMC
March 2019

Natural variability of daily physical activity measured by accelerometry in children with a mitochondrial disease.

Mitochondrion 2019 07 20;47:30-37. Epub 2019 Apr 20.

Radboud Center for Mitochondrial Medicine (RCMM), Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2019.04.005DOI Listing
July 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

Fear of disease progression in carriers of the m.3243A > G mutation.

Orphanet J Rare Dis 2018 11 13;13(1):203. Epub 2018 Nov 13.

Department of Medical Psychology, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1186/s13023-018-0951-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234600PMC
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

Inhibition of the ER stress IRE1α inflammatory pathway protects against cell death in mitochondrial complex I mutant cells.

Cell Death Dis 2018 05 31;9(6):658. Epub 2018 May 31.

Department of Cancer Biology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, 02215, USA.

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http://dx.doi.org/10.1038/s41419-018-0696-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5981317PMC
May 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

Quantification of gait in children with mitochondrial disease.

J Inherit Metab Dis 2018 07 12;41(4):731-740. Epub 2018 Mar 12.

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

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http://link.springer.com/10.1007/s10545-018-0148-5
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http://dx.doi.org/10.1007/s10545-018-0148-5DOI Listing
July 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

The genotypic and phenotypic spectrum of MTO1 deficiency.

Mol Genet Metab 2018 01 15;123(1):28-42. Epub 2017 Nov 15.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Departments of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780301PMC
January 2018

Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study.

Orphanet J Rare Dis 2017 10 27;12(1):170. Epub 2017 Oct 27.

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

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http://ojrd.biomedcentral.com/articles/10.1186/s13023-017-06
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http://dx.doi.org/10.1186/s13023-017-0688-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5660442PMC
October 2017

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

KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers.

Orphanet J Rare Dis 2017 10 16;12(1):163. Epub 2017 Oct 16.

Radboud Center for Mitochondrial Medicine (RCMM) at the Department of Pediatrics, Radboud university medical center, Geert Grooteplein Zuid 10, PO BOX 9101, 6500, HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1186/s13023-017-0715-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5644106PMC
October 2017

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

Quantification of gait in mitochondrial m.3243A > G patients: a validation study.

Orphanet J Rare Dis 2017 05 15;12(1):91. Epub 2017 May 15.

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

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http://dx.doi.org/10.1186/s13023-017-0644-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432977PMC
May 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

Radboud Centre for Mitochondrial Medicine Pediatric MRI score.

Mitochondrion 2017 Jan 16;32:36-41. Epub 2016 Nov 16.

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

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https://linkinghub.elsevier.com/retrieve/pii/S15677249163024
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http://dx.doi.org/10.1016/j.mito.2016.11.008DOI Listing
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

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders.

Neurology 2016 Nov 28;87(22):2290-2299. Epub 2016 Oct 28.

From the Research Programs Unit, Molecular Neurology (J.M.L., S.F., H.L., M.A., P.I.), Faculty of Medicine/Clinicum, Oncology (P.O.), and Finland Genome Scale Biology Program (S.L.), University of Helsinki, Finland; Mitochondrial Medicine Group (E.B., C.V., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, UK; Center for Physiology and Pathophysiology (O.R.B., R.J.W.), Institute of Vegetative Physiology, University of Köln, Germany; Transplantation and Liver Surgery Clinic (H.I., K.H.), Department of Oncology (P.O., S.L.), and Heart and Lung Center, Department of Cardiology (T.H.), Helsinki University Hospital; School of Medicine (M.H., J.J., R.L.), University of Tampere; Anaesthesiology, Intensive Care and Pain Medicine (R.M.), Clinical Neurosciences, Neurology (H.L., M.A., A.S.), and Child Neurology, Children's Hospital (P.I.), University of Helsinki and Helsinki University Hospital, Finland; Dyslipidemia Center (G.M.), Cardiotoracovascular Department, Niguarda Hospital, Milan, Italy; PEDEGO Research Unit (J.U.) and Biocenter Oulu (J.U.), University of Oulu; Finnish Clinical Biobank Tampere (R.L.), Tampere University Hospital, Finland; Nijmegen Centre for Mitochondrial Disorders (J.S.), Radboud University Medical Centre, Nijmegen, the Netherlands; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) (R.J.W.), Köln; Center for Molecular Medicine Cologne (R.J.W.), CMMC, University of Köln, Germany; Faculty of Life and Environmental Sciences (K.N.), University of Tsukuba, Japan; and Medical Research Center Oulu (J.U.), Oulu University Hospital and University of Oulu, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000003374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5270510PMC
November 2016

Bromodomain Inhibitors Correct Bioenergetic Deficiency Caused by Mitochondrial Disease Complex I Mutations.

Mol Cell 2016 10 22;64(1):163-175. Epub 2016 Sep 22.

Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA 02215; Department of Cell Biology, Harvard Medical School, Boston, MA, USA 02215; Broad Institute of MIT and Harvard, Cambridge, MA, USA 02142. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10972765163046
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5055448PMC
http://dx.doi.org/10.1016/j.molcel.2016.08.023DOI Listing
October 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

Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation.

Orphanet J Rare Dis 2016 Mar 18;11:25. Epub 2016 Mar 18.

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

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http://dx.doi.org/10.1186/s13023-016-0403-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4797235PMC
March 2016

Mitochondrial disorders in children: toward development of small-molecule treatment strategies.

EMBO Mol Med 2016 04;8(4):311-27

Centre for Systems Biology and Bioenergetics, Radboud University Medical Center, Nijmegen, The Netherlands Khondrion BV, Nijmegen, The Netherlands Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands

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http://dx.doi.org/10.15252/emmm.201506131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818752PMC
April 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

Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system.

BMC Genomics 2015 Sep 15;16:691. Epub 2015 Sep 15.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, PO BOX 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1186/s12864-015-1883-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570683PMC
September 2015

Gait analysis in a mouse model resembling Leigh disease.

Behav Brain Res 2016 Jan 9;296:191-198. Epub 2015 Sep 9.

Nijmegen Center for Mitochondrial Disorders, Department of Paediatrics, Radboud UMC, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbr.2015.09.006DOI Listing
January 2016

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

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

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

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

J Inherit Metab Dis 2015 May 4;38(3):437-43. Epub 2015 Mar 4.

Department of Pediatrics, Radboudumc, Nijmegen Centre for Mitochondrial Disorders (NCMD), 774 Translational Metabolic Laboratory, P.O Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-015-9823-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432107PMC
May 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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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

Mitochondrial diseases: Drosophila melanogaster as a model to evaluate potential therapeutics.

Int J Biochem Cell Biol 2015 Jun 7;63:60-5. Epub 2015 Feb 7.

Khondrion BV, Nijmegen, The Netherlands. Electronic address:

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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.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

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

J Inherit Metab Dis 2015 May 20;38(3):391-403. Epub 2014 Dec 20.

Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, Salzburg, 5020, Austria,

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May 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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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://www.ncbi.nlm.nih.gov/pmc/articles/PMC4244163PMC
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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January 2015

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

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.

J Inherit Metab Dis 2015 Mar 22;38(2):323-31. Epub 2014 Jul 22.

Erasmus MC Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-014-9737-0DOI Listing
March 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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July 2014

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

Eur J Hum Genet 2015 Feb 30;23(2):202-9. Epub 2014 Apr 30.

Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands.

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http://www.nature.com/doifinder/10.1038/ejhg.2014.80
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297908PMC
February 2015

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

Isoflurane anesthetic hypersensitivity and progressive respiratory depression in a mouse model with isolated mitochondrial complex I deficiency.

J Anesth 2014 Dec 13;28(6):807-14. Epub 2014 Feb 13.

Department of Anesthesiology, Radboud University Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00540-014-1791-0DOI Listing
December 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://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720734PMC
March 2014

New treatments for mitochondrial disease-no time to drop our standards.

Nat Rev Neurol 2013 Aug 2;9(8):474-81. Epub 2013 Jul 2.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Ageing and Health, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1038/nrneurol.2013.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4967498PMC
August 2013

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 guide to diagnosis and treatment of Leigh syndrome.

J Neurol Neurosurg Psychiatry 2014 Mar 14;85(3):257-65. Epub 2013 Jun 14.

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

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http://dx.doi.org/10.1136/jnnp-2012-304426DOI Listing
March 2014

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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August 2013

Problems of adults with a mitochondrial disease - the patients' perspective: focus on loss.

JIMD Rep 2012 24;6:85-94. Epub 2012 Feb 24.

Department of Paediatrics, Radboud University Nijmegen Medical Centre, 9101, Internal Post Number 833, 6500, Nijmegen, The Netherlands,

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http://dx.doi.org/10.1007/8904_2011_121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565683PMC
February 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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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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March 2013

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.

Gene 2013 Mar 22;516(1):162-7. Epub 2012 Dec 22.

Department of Pediatrics, McMaster Children's Hospital, Hamilton, Ontario, Canada.

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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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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://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