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ArticlesPeer ReviewedFull Text
Monogenic Mitochondrial Disorders
Author / Creator:Koopman, Werner J.H ; Willems, Peter H.G.M ; Smeitink, Jan A.M
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2012-03, Vol.366 (12), p.1132-1141
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Mitochondrial ATP synthase: architecture, function and pathology
Author / Creator:Jonckheere, An I. ; Smeitink, Jan A. M. ; Rodenburg, Richard J. T.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-03, Vol.35 (2), p.211-225
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Mammalian mitochondrial complex I: biogenesis, regulation, and reactive oxygen species generation
Author / Creator:Koopman, Werner J H ; Nijtmans, Leo G J ; Dieteren, Cindy E J ; Roestenberg, Peggy ; Valsecchi, Federica ; Smeitink, Jan A M ; Willems, Peter H G M
Publisher:United States: Mary Ann Liebert, Inc
Journal title:Antioxidants & redox signaling, 2010-06, Vol.12 (12), p.1431-1470
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OXPHOS mutations and neurodegeneration
Author / Creator:Koopman, Werner J H ; Distelmaier, Felix ; Smeitink, Jan AM ; Willems, Peter HGM
Publisher:Chichester, UK: John Wiley & Sons, Ltd
Journal title:The EMBO journal, 2013-01, Vol.32 (1), p.9-29
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Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation
Author / Creator:de Laat, Paul ; Koene, Saskia ; van den Heuvel, Lambert P. W. J. ; Rodenburg, Richard J. T. ; Janssen, Mirian C. H. ; Smeitink, Jan A. M.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-11, Vol.35 (6), p.1059-1069
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Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts
Author / Creator:Janssen, Antoon J.M ; Trijbels, Frans J.M ; Sengers, Rob C.A ; Smeitink, Jan A.M ; van den Heuvel, Lambert P ; Wintjes, Liesbeth T.M ; Stoltenborg-Hogenkamp, Berendien J.M ; Rodenburg, Richard J.T
Publisher:Washington, DC: Am Assoc Clin Chem
Journal title:Clinical chemistry (Baltimore, Md.), 2007-04, Vol.53 (4), p.729-734
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Whole exome sequencing of suspected mitochondrial patients in clinical practice
Author / Creator:Wortmann, Saskia B. ; Koolen, David A. ; Smeitink, Jan A. ; van den Heuvel, Lambert ; Rodenburg, Richard J.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.437-443
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Sonlicromanol's active metabolite KH176m normalizes prostate cancer stem cell mPGES-1 overexpression and inhibits cancer spheroid growth
Author / Creator:Jiang, Xiaolan ; Renkema, Herma ; Smeitink, Jan ; Beyrath, Julien
Publisher:United States: Public Library of Science
Journal title:PloS one, 2021-07, Vol.16 (7), p.e0254315
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3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients
Author / Creator:Wortmann, Saskia B. ; Kluijtmans, Leo A. J. ; Rodenburg, Richard J. ; Sass, Jörn Oliver ; Nouws, Jessica ; van Kaauwen, Edwin P. ; Kleefstra, Tjitske ; Tranebjaerg, Lisbeth ; de Vries, Maaike C. ; Isohanni, Pirjo ; Walter, Katharina ; Alkuraya, Fowzan S. ; Smuts, Izelle ; Reinecke, Carolus J. ; van der Westhuizen, Francois H. ; Thorburn, David ; Smeitink, Jan A. M. ; Morava, Eva ; Wevers, Ron A.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.913-921
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Multiplexed high-content analysis of mitochondrial morphofunction using live-cell microscopy
Author / Creator:Iannetti, Eligio F ; Smeitink, Jan A M ; Beyrath, Julien ; Willems, Peter H G M ; Koopman, Werner J H
Publisher:London: Nature Publishing Group UK
Journal title:Nature protocols, 2016-09, Vol.11 (9), p.1693-1710
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Mitochondrial Translation and Beyond : Processes Implicated in Combined Oxidative Phosphorylation Deficiencies
Author / Creator:Smits, Paulien ; Smeitink, Jan ; van den Heuvel, Lambert
Publisher:Cairo, Egypt: Hindawi Puplishing Corporation
Journal title:BioMed research international, 2010-01, Vol.2010 (2010), p.1-24
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Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant
Author / Creator:de Laat, Paul ; Rodenburg, Richard R ; Roeleveld, Nel ; Koene, Saskia ; Smeitink, Jan A ; Janssen, Mirian CH
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2021-01, Vol.58 (1), p.48-55
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Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy
Author / Creator:Smits, Paulien ; Saada, Ann ; Wortmann, Saskia B ; Heister, Angelien J ; Brink, Maaike ; Pfundt, Rolph ; Miller, Chaya ; Haas, Dorothea ; Hantschmann, Ralph ; Rodenburg, Richard J T ; Smeitink, Jan A M ; van den Heuvel, Lambert P
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.394-399
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Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Author / Creator:Scheper, Gert C ; van der Klok, Thom ; van Andel, Rob J ; van Berkel, Carola G M ; Sissler, Marie ; Smet, Joél ; Muravina, Tatjana I ; Serkov, Sergey V ; Uziel, Graziella ; Bugiani, Marianna ; Schiffmann, Raphael ; Krägeloh-Mann, Ingeborg ; Smeitink, Jan A M ; Florentz, Catherine ; Van Coster, Rudy ; Pronk, Jan C ; van der Knaap, Marjo S
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2007-04, Vol.39 (4), p.534-539
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KH176 Safeguards Mitochondrial Diseased Cells from Redox Stress-Induced Cell Death by Interacting with the Thioredoxin System/Peroxiredoxin Enzyme Machinery
Author / Creator:Beyrath, Julien ; Pellegrini, Mina ; Renkema, Herma ; Houben, Lisanne ; Pecheritsyna, Svetlana ; van Zandvoort, Peter ; van den Broek, Petra ; Bekel, Akkiz ; Eftekhari, Pierre ; Smeitink, Jan A. M.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-04, Vol.8 (1), p.6577-14, Article 6577
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ArticlesPeer ReviewedFull Text
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
Author / Creator:Wortmann, Saskia B ; Vaz, Frédéric M ; Gardeitchik, Thatjana ; Vissers, Lisenka E L M ; Renkema, G Herma ; Schuurs-Hoeijmakers, Janneke H M ; Kulik, Wim ; Lammens, Martin ; Christin, Christin ; Kluijtmans, Leo A J ; Rodenburg, Richard J ; Nijtmans, Leo G J ; Grünewald, Anne ; Klein, Christine ; Gerhold, Joachim M ; Kozicz, Tamas ; van Hasselt, Peter M ; Harakalova, Magdalena ; Kloosterman, Wigard ; Barić, Ivo ; Pronicka, Ewa ; Ucar, Sema Kalkan ; Naess, Karin ; Singhal, Kapil K ; Krumina, Zita ; Gilissen, Christian ; van Bokhoven, Hans ; Veltman, Joris A ; Smeitink, Jan A M ; Lefeber, Dirk J ; Spelbrink, Johannes N ; Wevers, Ron A ; Morava, Eva ; de Brouwer, Arjan P M
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-07, Vol.44 (7), p.797-802
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The antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency
Author / Creator:Distelmaier, Felix ; Visch, Henk-Jan ; Smeitink, Jan A. M. ; Mayatepek, Ertan ; Koopman, Werner J. H. ; Willems, Peter H. G. M.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of molecular medicine (Berlin, Germany), 2009-05, Vol.87 (5), p.515-522
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Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling
Author / Creator:Wessels, Hans J C T ; Vogel, Rutger O ; Lightowlers, Robert N ; Spelbrink, Johannes N ; Rodenburg, Richard J ; van den Heuvel, Lambert P ; van Gool, Alain J ; Gloerich, Jolein ; Smeitink, Jan A M ; Nijtmans, Leo G
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-07, Vol.8 (7), p.e68340-e68340
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Mutant Mitochondrial Elongation Factor G1 and Combined Oxidative Phosphorylation Deficiency
Author / Creator:Coenen, Marieke J.H ; Antonicka, Hana ; Ugalde, Cristina ; Sasarman, Florin ; Rossi, Rainer ; Heister, J.G.A.M. Angelien ; Newbold, Robert F ; Trijbels, Frans J.M.F ; van den Heuvel, Lambert P ; Shoubridge, Eric A ; Smeitink, Jan A.M
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2004-11, Vol.351 (20), p.2080-2086
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Photo-induction and automated quantification of reversible mitochondrial permeability transition pore opening in primary mouse myotubes
Author / Creator:Blanchet, Lionel ; Grefte, Sander ; Smeitink, Jan A M ; Willems, Peter H G M ; Koopman, Werner J H
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-11, Vol.9 (11), p.e114090-e114090
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Showing 1 to 20 of 138 results

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Monogenic Mitochondrial Disorders

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Mitochondrial ATP synthase: architecture, function and pathology

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

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OXPHOS mutations and neurodegeneration

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

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Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

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Whole exome sequencing of suspected mitochondrial patients in clinical practice

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Sonlicromanol's active metabolite KH176m normalizes prostate cancer stem cell mPGES-1 overexpression and inhibits cancer spheroid growth

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

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

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Mitochondrial Translation and Beyond : Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

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

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Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

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Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

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KH176 Safeguards Mitochondrial Diseased Cells from Redox Stress-Induced Cell Death by Interacting with the Thioredoxin System/Peroxiredoxin Enzyme Machinery

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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

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

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

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Mutant Mitochondrial Elongation Factor G1 and Combined Oxidative Phosphorylation Deficiency

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

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