Search Results - "Smeitink, J."

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases by Koene, S., Rodenburg, R. J., van der Knaap, M. S., Willemsen, M. A. A. P., Sperl, W., Laugel, V., Ostergaard, E., Tarnopolsky, M., Martin, M. A., Nesbitt, V., Fletcher, J., Edvardson, S., Procaccio, V., Slama, A., van den Heuvel, L. P. W. J., Smeitink, J. A. M.

“…Mitochondrial complex I is the largest multi-protein enzyme complex of the oxidative phosphorylation system. Seven subunits of this complex are encoded by the…”
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Mitochondrial disease criteria : Diagnostic applications in children by MORAVA, E, VAN DEN HEUVEL, L, HOL, F, DE VRIES, M. C, HOGEVEEN, M, RODENBURG, R. J, SMEITINK, J. A. M

“…Based on a previous prospective clinical and biochemical study, a consensus mitochondrial disease scoring system was established to facilitate the diagnosis in…”
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Mechanism of action and potential applications of selective inhibition of microsomal prostaglandin E synthase-1-mediated PGE2 biosynthesis by sonlicromanol’s metabolite KH176m by Jiang, X., Renkema, H., Pennings, B., Pecheritsyna, S., Schoeman, J. C., Hankemeier, T., Smeitink, J., Beyrath, J.

“…Increased prostaglandin E2 (PGE 2 ) levels were detected in mitochondrial disease patient cells harboring nuclear gene mutations in structural subunits of…”
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Mitochondrial medicine: entering the era of treatment by Koene, S., Smeitink, J.

“… Research of patients with defects in cellular energy metabolism (mitochondrial disease) has led to a better understanding of mitochondrial biology in health…”
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MtDNA mutagenesis impairs elimination of mitochondria during erythroid maturation leading to enhanced erythrocyte destruction by Ahlqvist, K.J., Leoncini, S., Pecorelli, A., Wortmann, S.B., Ahola, S., Forsström, S., Guerranti, R., De Felice, C., Smeitink, J., Ciccoli, L., Hämäläinen, R.H., Suomalainen, A.

“…Haematopoietic progenitor cells show special sensitivity to mitochondrial DNA (mtDNA) mutagenesis, which suggests that increased mtDNA mutagenesis could…”
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The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases by Breuer, M.E, Koopman, W.J, Koene, S, Nooteboom, M, Rodenburg, R.J, Willems, P.H, Smeitink, J.A.M

“…Abstract The development of neurologic disease is a complex and multi-faceted process. Several factors, such as physiology, environment and genetics may play…”
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Mining for mitochondrial mechanisms: Linking known syndromes to mitochondrial function by Panneman, D.M., Smeitink, J.A., Rodenburg, R.J.

“…Mitochondrial disorders (MDs) are caused by defects in 1 or multiple complexes of the oxidative phosphorylation (OXPHOS) machinery. MDs are associated with a…”
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Blended cognitive behaviour therapy for children and adolescents with mitochondrial disease targeting fatigue (PowerMe): study protocol for a multiple baseline single case experiment by Klein, I L, van de Loo, K F E, Hoogeboom, T J, Janssen, M C H, Smeitink, J A M, van der Veer, E, Verhaak, C M, Custers, J A E

“…Mitochondrial disease is a rare, hereditary disease with a heterogeneous clinical presentation. However, fatigue is a common and burdensome complaint in…”
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NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect by Baertling, F., Sánchez‐Caballero, L., van den Brand, M.A.M., Fung, C.‐W., Chan, S.H.‐S., Wong, V.C.‐N., Hellebrekers, D.M.E., de Coo, I.F.M., Smeitink, J.A.M., Rodenburg, R.J.T., Nijtmans, L.G.J.

“…Mitochondrial respiratory chain complex I consists of 44 different subunits and contains 3 functional modules: the Q‐, the N‐ and the P‐module. NDUFA9 is a…”
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Mitochondrial toxicity induced by nucleoside-analogue reverse-transcriptase inhibitors is a key factor in the pathogenesis of antiretroviral-therapy-related lipodystrophy by Brinkman, Kees, Smeitink, Jan A, Romijn, Johannes A, Reiss, Peter

“…Highly active antiretroviral therapy (HAART) can induce a characteristic lipodystrophy syndrome of peripheral fat wasting and central adiposity. HIV-1 protease…”
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Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? — a retrospective pilot study by Koene, S., Timmermans, J., Weijers, G., de Laat, P., de Korte, C. L., Smeitink, J. A. M., Janssen, M. C. H., Kapusta, L.

“…Objectives Cardiomyopathy is a common complication of mitochondrial disorders, associated with increased mortality. Two dimensional speckle tracking…”
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Major depression in adolescent children consecutively diagnosed with mitochondrial disorder by Koene, S, Kozicz, T.L, Rodenburg, R.J.T, Verhaak, C.M, de Vries, M.C, Wortmann, S, van de Heuvel, L, Smeitink, J.A.M, Morava, E

“…Abstract A higher incidence of major depression has been described in adults with a primary oxidative phosphorylation disease. Intriguingly however, not all…”
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A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy by Jonckheere, A I, Hogeveen, M, Nijtmans, L G J, van den Brand, M A M, Janssen, A J M, Diepstra, J H S, van den Brandt, F C A, van den Heuvel, L P, Hol, F A, Hofste, T G J, Kapusta, L, Dillmann, U, Shamdeen, M G, Smeitink, J A M, Rodenburg, R J T

“…To identify the biochemical and molecular genetic defect in a 16-year-old patient presenting with apical hypertrophic cardiomyopathy and neuropathy suspected…”
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Dysphagia, malnutrition and gastrointestinal problems in patients with mitochondrial disease caused by the m3243A>G mutation by de Laat, P, Zweers, H E E, Knuijt, S, Smeitink, J A M, Wanten, G J A, Janssen, M C H

“…Previous research has shown that dysphagia and gastrointestinal problems occur frequently in carriers of the m.3243A>G mutation; however, the exact frequency…”
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Adverse effects of reverse transcriptase inhibitors : mitochondrial toxicity as common pathway by BRINKMAN, K, TER HOFSTEDE, H. J. M, BURGER, D. M, SMEITINK, J. A. M, KOOPMANS, P. P

“…After zidovudine (ZDV), a 3'-azido analogue of thymidine, was found to be an effective antiretroviral drug against HIV, other nucleoside analogues inhibiting…”
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Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis by Voets, A.M., Huigsloot, M., Lindsey, P.J., Leenders, A.M., Koopman, W.J.H., Willems, P.H.G.M., Rodenburg, R.J., Smeitink, J.A.M., Smeets, H.J.M.

“…Defective complex I (CI) is the most common type of oxidative phosphorylation disease, with an incidence of 1 in 5000 live births. Here, whole genome…”
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‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes by Bramswig, Nuria C., Ockeloen, C. W., Czeschik, J. C., van Essen, A. J., Pfundt, R., Smeitink, J., Poll-The, B. T., Engels, H., Strom, T. M., Wieczorek, D., Kleefstra, T., Lüdecke, H.-J.

“…KCNH1 mutations have recently been described in six individuals with Temple–Baraitser syndrome (TMBTS) and six individuals with Zimmermann–Laband syndrome…”
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Trial readiness in children with mitochondrial disease: selection of outcome measures by Koene, S, de Groot, I, de Vries, M, de Boer, L, Janssen, M.C.H, Smeitink, J

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Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies by Smits, P., Rodenburg, R. J., Smeitink, J. A. M., van den Heuvel, L. P.

“…Summary The oxidative phosphorylation (OXPHOS) system, comprising five enzyme complexes, is located in the inner membrane of mitochondria and is the final…”
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A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects? by van der Put, Nathalie M.J., Gabreëls, Fons, Stevens, Erik M.B., Smeitink, Jan A.M., Trijbels, Frans J.M., Eskes, Tom K.A.B., van den Heuvel, Lambert P., Blom, Henk J.

“…Recently, we showed that homozygosity for the common 677(C→T) mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, causing thermolability of the…”
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