Search Results - "Smeitink, J.A.M."

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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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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Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects by Loeffen, J.L.C.M., Smeitink, J.A.M., Trijbels, J.M.F., Janssen, A.J.M., Triepels, R.H., Sengers, R.C.A., van den Heuvel, L.P.

“…We retrospectively examined clinical and biochemical characteristics of 27 patients with isolated enzymatic complex I deficiency (established in cultured skin…”
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Some practical aspects of providing a diagnostic service for respiratory chain defects by Janssen, A J M, Smeitink, J A M, van den Heuvel, L P

“…The oxidative phosphorylation system (OXPHOS) is organized into five multi-protein complexes, comprising four complexes (I-IV) of the respiratory chain and ATP…”
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Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations by Rubio-Gozalbo, M.E., Dijkman, K.P., van den Heuvel, L.P., Sengers, R.C.A., Wendel, U., Smeitink, J.A.M.

“…Defects in oxidative phosphorylation (OXPHOS) are genetically unique because the different components involved in this process, respiratory chain enzyme…”
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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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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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Combining quantitative live-cell microscopy with mathematical modeling to understand and combat mitochondrial disease in skeletal muscle by Nooteboom, M., Liemburg-Apers, D.C., Alam, M.T., Swarts, H., Smeitink, J.A.M., Koopman, W.J., Willems, P.H.G.M.

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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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Combined Enzymatic Complex I and III Deficiency Associated with Mutations in the Nuclear Encoded NDUFS4 Gene by Budde, S.M.S., van den Heuvel, L.P.W.J., Janssen, A.J., Smeets, R.J.P., Buskens, C.A.F., DeMeirleir, L., Van Coster, R., Baethmann, M., Voit, T., Trijbels, J.M.F., Smeitink, J.A.M.

“…Combined OXPHOS-system enzyme deficiencies are observed in approximately 25% of all OXPHOS-system disturbances. Of these, combined complex I and III deficiency…”
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Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondria by Koopman, Werner J H, Distelmaier, Felix, Hink, Mark A, Verkaart, Sjoerd, Wijers, Mietske, Fransen, Jack, Smeitink, Jan A M, Willems, Peter H G M

“…Mitochondria continuously change shape, position, and matrix configuration for optimal metabolite exchange. It is well established that changes in…”
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Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation by Wortmann, S., Rodenburg, R.J.T., Huizing, M., Loupatty, F.J., de Koning, T., Kluijtmans, L.A.J., Engelke, U., Wevers, R., Smeitink, J.A.M., Morava, E.

“…In this paper, we describe a distinct clinical subtype of 3-methylglutaconic aciduria. 3-Methylglutaconic aciduria is a group of different metabolic disorders…”
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46 Functional characterization of energy deficient myoblasts and myotubes by Huigsloot, M., Jonckheere, A.I., Janssen, A.J.M., Kappen, A., Smeitink, J.A.M., Rodenburg, R.J.T.

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47 Measurement of mitochondrial oxygen consumption using a fluorescence-based oxygen-sensitive probe: Application to mitochondrial medicine by Jonckheere, A.I., Huigsloot, M., Janssen, A.J.M., Kappen, A., Smeitink, J.A.M., Rodenburg, R.J.T.

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Partial complex I inhibition decreases mitochondrial motility and increases matrix protein diffusion as revealed by fluorescence correlation spectroscopy by Koopman, Werner J.H., Hink, Mark A., Verkaart, Sjoerd, Visch, Henk-Jan, Smeitink, Jan A.M., Willems, Peter H.G.M.

“…We previously reported that inhibition of mitochondrial complex I (CI) by rotenone induces marked increases in mitochondrial length and degree of branching,…”
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Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism by Vlaardingerbroek, H., Hornstra, G., de Koning, T.J., Smeitink, J.A.M., Bakker, H.D., de Klerk, H.B.C., Rubio-Gozalbo, M.E.

“…Essential fatty acids (EFAs), and their longer-chain more-unsaturated derivatives (LCPUFAs) in particular, are essential for normal growth and cognitive…”
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63. Major depression in adolescent children consecutively diagnosed with mitochondrial disorder by Koene, S., Kozicz, T.L., Rodenburg, R.J.T., Verhaak, C.M., Vries, M.C., de Heuvel, L., Smeitink, J.A.M., Morava, E.

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Cell biological consequences of mitochondrial NADH: ubiquinone oxidoreductase deficiency by Smeitink, Jan A M, van den Heuvel, Lambert W P J, Koopman, Werner J H, Nijtmans, Leo G J, Ugalde, Cristina, Willems, Peter H G M

“…Human complex I (NADH:ubiquinone oxidoreductase; EC 1.6.5.3) is the first and largest multi-protein assembly of the mitochondrial oxidative phosphorylation…”
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26 A novel mitochondrial ATP 8 (MT-ATP8) gene mutation in a patient with neuropathy and cardiomyopathy by Jonckheere, A.I., Hogeveen, M., Nijtmans, L.G.J., van den Brand, M.A., Janssen, A.J.M., Diepstra, H., van den brandt, F.C.A., van den Heuvel, L.P., Hol, F., Siers, M.H., Smeitink, J.A.M., Rodenburg, R.

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Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase γ (POLG) mutations by de Vries, M.C., Rodenburg, R.J., Moraval, E., van Kaauwen, E.P.M., Ter Laak, H., Mullaart, R.A., Snoeck, I.N., van Hasselt, P.M., Harding, P., van den Heuvel, L.P.W., Smeitink, J.A.M.

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