Search Results - "Smeitink, Jan A M"

Mitochondrial ATP synthase: architecture, function and pathology by Jonckheere, An I., Smeitink, Jan A. M., Rodenburg, Richard J. T.

“…Human mitochondrial (mt) ATP synthase, or complex V consists of two functional domains: F 1 , situated in the mitochondrial matrix, and F o , located in the…”
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Monogenic Mitochondrial Disorders by Koopman, Werner J.H, Willems, Peter H.G.M, Smeitink, Jan A.M

“…Rare monogenic disorders of mitochondria have shed light on mitochondrial function, and the development of therapeutic agents for these disorders may be…”
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Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation by de Laat, Paul, Koene, Saskia, van den Heuvel, Lambert P. W. J., Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.

“…The m.3243A > G mutation has become known as the MELAS mutation. However, many other clinical phenotypes associated with this mutation have been described,…”
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Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts by Mortiboys, Heather, Thomas, Kelly Jean, Koopman, Werner J. H., Klaffke, Stefanie, Abou-Sleiman, Patrick, Olpin, Simon, Wood, Nicholas W., Willems, Peter H. G. M., Smeitink, Jan A. M., Cookson, Mark R., Bandmann, Oliver

“…Objective There are marked mitochondrial abnormalities in parkin‐knock‐out Drosophila and other model systems. The aim of our study was to determine…”
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Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts by 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

“…A reliable and sensitive complex I assay is an essential tool for the diagnosis of mitochondrial disorders, but current spectrophotometric assays suffer from…”
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Statin Lactonization by Uridine 5′-Diphospho-glucuronosyltransferases (UGTs) by Schirris, Tom J. J, Ritschel, Tina, Bilos, Albert, Smeitink, Jan A. M, Russel, Frans G. M

“…Statins are cholesterol-lowering drugs that have proven to be effective in lowering the risk of major cardiovascular events. Although well tolerated,…”
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3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients by 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.

“…Elevated urinary excretion of 3-methylglutaconic acid is considered rare in patients suspected of a metabolic disorder. In 3-methylglutaconyl-CoA hydratase…”
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Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect by Antonicka, Hana, Østergaard, Elsebet, Sasarman, Florin, Weraarpachai, Woranontee, Wibrand, Flemming, Pedersen, Anne Marie B., Rodenburg, Richard J., van der Knaap, Marjo S., Smeitink, Jan A.M., Chrzanowska-Lightowlers, Zofia M., Shoubridge, Eric A.

“…We investigated the genetic basis for a global and uniform decrease in mitochondrial translation in fibroblasts from patients in two unrelated pedigrees who…”
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A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy by JONCKHEERE, An I, RENKEMA, G. Herma, RODENBURG, Richard J. T, BRAS, Maaike, DEN HEUVEL, Lambert P. Van, HOISCHEN, Alexander, GILISSEN, Christian, NABUURS, Sander B, HUYNEN, Martijn A, DE VRIES, Maaike C, SMEITINK, Jan A. M

“…Whole exome sequencing is a powerful tool to detect novel pathogenic mutations in patients with suspected mitochondrial disease. However, the interpretation of…”
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Psychological functioning in children suspected for mitochondrial disease: the need for care by van de Loo, Kim F E, Custers, José A E, Koene, Saskia, Klein, Inge-Lot, Janssen, Mirian C H, Smeitink, Jan A M, Verhaak, Christianne M

“…Mitochondrial diseases (MD) are generally serious and progressive, inherited metabolic diseases. There is a high comorbidity of anxiety and depression and…”
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Mitochondrial complex I: Structure, function and pathology by Janssen, Rolf J. R. J., Nijtmans, Leo G., Heuvel, Lambert P. van den, Smeitink, Jan A. M.

“…Summary Oxidative phosphorylation (OXPHOS) has a prominent role in energy metabolism of the cell. Being under bigenomic control, correct biogenesis and…”
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The antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency by Distelmaier, Felix, Visch, Henk-Jan, Smeitink, Jan A. M., Mayatepek, Ertan, Koopman, Werner J. H., Willems, Peter H. G. M.

“…Malfunction of mitochondrial complex I caused by nuclear gene mutations causes early-onset neurodegenerative diseases. Previous work using cultured fibroblasts…”
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Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling by 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

“…Complexome profiling is a novel technique which uses shotgun proteomics to establish protein migration profiles from fractionated blue native electrophoresis…”
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Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease by Saada, Ann, Vogel, Rutger O., Hoefs, Saskia J., van den Brand, Mariël A., Wessels, Hans J., Willems, Peter H., Venselaar, Hanka, Shaag, Avraham, Barghuti, Flora, Reish, Orit, Shohat, Mordechai, Huynen, Martijn A., Smeitink, Jan A.M., van den Heuvel, Lambert P., Nijtmans, Leo G.

“…Mitochondrial complex I deficiency is the most prevalent and least understood disorder of the oxidative phosphorylation system. The genetic cause of many cases…”
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Reconstructing the evolution of the mitochondrial ribosomal proteome by Smits, Paulien, Smeitink, Jan A.M, van den Heuvel, Lambert P, Huynen, Martijn A, Ettema, Thijs J.G

“…For production of proteins that are encoded by the mitochondrial genome, mitochondria rely on their own mitochondrial translation system, with the mitoribosome…”
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Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins by Schwab, Marina A, Sauer, Sven W, Okun, Jürgen G, Nijtmans, Leo G J, Rodenburg, Richard J T, van den Heuvel, Lambert P, Dröse, Stefan, Brandt, Ulrich, Hoffmann, Georg F, Ter Laak, Henk, Kölker, Stefan, Smeitink, Jan A M

“…Mitochondrial dysfunction during acute metabolic crises is considered an important pathomechanism in inherited disorders of propionate metabolism, i.e…”
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Photo-induction and automated quantification of reversible mitochondrial permeability transition pore opening in primary mouse myotubes by Blanchet, Lionel, Grefte, Sander, Smeitink, Jan A M, Willems, Peter H G M, Koopman, Werner J H

“…Opening of the mitochondrial permeability transition pore (mPTP) is involved in various cellular processes including apoptosis induction. Two distinct states…”
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Brothers in Arms: ABCA1- and ABCG1-Mediated Cholesterol Efflux as Promising Targets in Cardiovascular Disease Treatment by Frambach, Sanne J C M, de Haas, Ria, Smeitink, Jan A M, Rongen, Gerard A, Russel, Frans G M, Schirris, Tom J J

“…Atherosclerosis is a leading cause of cardiovascular disease worldwide, and hypercholesterolemia is a major risk factor. Preventive treatments mainly focus on…”
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Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology? by Koopman, Werner J H, Verkaart, Sjoerd, Visch, Henk Jan, van Emst-de Vries, Sjenet, Nijtmans, Leo G J, Smeitink, Jan A M, Willems, Peter H G M

“…Malfunction of NADH:ubiquinone oxidoreductase or complex I (CI), the first and largest complex of the mitochondrial oxidative phosphorylation system, has been…”
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Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency by Koopman, Werner J H, Visch, Henk-Jan, Verkaart, Sjoerd, van den Heuvel, Lambertus W P J, Smeitink, Jan A M, Willems, Peter H G M

“…Complex I (NADH:ubiquinone oxidoreductase) is the largest multisubunit assembly of the oxidative phosphorylation system, and its malfunction is associated with…”
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