Search Results - "Taanman, J W"

Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology by Grünewald, A., Gegg, M.E., Taanman, J.-W., King, R.H., Kock, N., Klein, C., Schapira, A.H.V.

“…Mutations of the PINK1 gene are a cause of autosomal recessive Parkinson's disease (PD). PINK1 encodes a mitochondrial kinase of unknown function which is…”
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Biochemical abnormalities and excitotoxicity in Huntington's disease brain by Tabrizi, S. J., Cleeter, M. W. J., Xuereb, J., Taanman, J.-W., Cooper, J. M., Schapira, A. H. V.

“…The physiological role of huntingtin and the mechanisms by which the expanded CAG repeat in ITI5 and its polyglutamine stretch in mutant huntingtin induce…”
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Mitochondria in the etiology and pathogenesis of Parkinson's disease by Schapira, A H, Gu, M, Taanman, J W, Tabrizi, S J, Seaton, T, Cleeter, M, Cooper, J M

“…Mitochondria play a critical role in cellular energy metabolism. The identification of a respiratory chain defect in Parkinson's disease (PD) provides not only…”
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Subunit composition of respiratory chain complex 1 and its responses to oxygen in mitochondria from human donor livers by Khorsandi, S E, Taanman, J W, Heaton, N

“…Donor liver function in transplantation is defined by mitochondrial function and the ability of mitochondria to recover from the sequence of warm and/or cold…”
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Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease by Gu, M, Cooper, J M, Taanman, J W, Schapira, A H

“…Several groups have identified mitochondrial complex I deficiency in Parkinson's disease (PD) substantia nigra and in platelets. A search for any mitochondrial…”
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A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency by VALNOT, I, VON KLEIST-RETZOW, J.-C, BARRIENTOS, A, GORBATYUK, M, TAANMAN, J.-W, MEHAYE, B, RUSTIN, P, TZAGOLOFF, A, MUNNICH, A, RÖTIG, A

“…Cytochrome c oxidase (COX) defects are found in a clinically and genetically heterogeneous group of mitochondrial disorders. To date, mutations in only two…”
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A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure by Tzagoloff, Alexander, Niaudet, Patrick, Barrientos, Antoni, Munnich, Arnold, Rustin, Pierre, Taanman, Jan-Willem, Chrétien, Dominique, Kadhom, Noman, Rötig, Agnès, Benayoun, Emmanuel, Lombès, Anne, Valnot, Isabelle, de Lonlay, Pascale, Gorbatyuk, Marina, de Baulny, Hélène Ogier

“…Complex III (CIII; ubiquinol cytochrome c reductase of the mitochondrial respiratory chain) catalyzes electron transfer from succinate and nicotinamide adenine…”
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Influence of zinc and zinc chelator on HT-29 colorectal cell line by Gurusamy, K. S, Farooqui, N, Loizidou, M, Dijk, S, Taanman, J. W, Whiting, S, Farquharson, M. J, Fuller, B. J, Davidson, B. R

“…Trace elements are involved in many key pathways involving cell cycle control. The influence of zinc and zinc chelator (TPEN) on transcription levels of the…”
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Expression of mutant α-synuclein causes increased susceptibility to dopamine toxicity by TABRIZI, Sarah J, ORTH, Michael, WILKINSON, J. Max, TAANMAN, Jan-Willem, WARNER, Thomas T, COOPER, J. Mark, SCHAPIRA, Anthony H. V

“…Mutations of the alpha-synuclein gene have been identified in autosomal dominant Parkinson's disease (PD). Transgenic mice overexpressing wild-type human…”
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Remodelling of bioenergetic pathways in human fibroblasts with carbohydrates by Protasoni, M, Taanman, J.-W

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Molecular Mechanisms in Mitochondrial DNA Depletion Syndrome by Taanman, J.-W., Bodnar, A. G., Cooper, J. M., Morris, A. A. M., Clayton, P. T., Leonard, J. V., Schapira, A. H. V.

“…Depletion of mitochondrial DNA (mtDNA) appears to be an important cause of mitochondrial dysfunction in neonates and infants. We have identified another child…”
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Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts by Taanman, Jan-Willem, Muddle, John R., Muntau, Ania C.

“…Deoxyguanosine kinase is a constitutively expressed, mitochondrial enzyme of the deoxyribonucleoside salvage pathway. Deficiency of deoxyguanosine kinase…”
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Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease by Comi, G P, Bordoni, A, Salani, S, Franceschina, L, Sciacco, M, Prelle, A, Fortunato, F, Zeviani, M, Napoli, L, Bresolin, N, Moggio, M, Ausenda, C D, Taanman, J W, Scarlato, G

“…An out-of-frame mutation of the mitochondrial DNA-encoded subunit I of cytochrome c oxidase (COX) was discovered during investigation of a severe isolated…”
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A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome by TIRANTI, Valeria, CORONA, Paola, GRECO, Marilena, TAANMAN, Jan-Willem, CARRARA, Franco, LAMANTEA, Eleonora, NIJTMANS, Leo, UZIEL, Graziella, ZEVIANI, Massimo

“…We report on a novel frameshift mutation in the mtDNA gene encoding cytochrome c oxidase (COX) subunit III. The proband is an 11-year-old girl with a negative…”
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Decreased brain protein levels of cytochrome oxidase subunits in Alzheimer's disease and in hereditary spinocerebellar ataxia disorders : A nonspecific change? by KISH, S. J, MASTROGIACOMO, F, GUTTMAN, M, FURUKAWA, Y, TAANMAN, J.-W, DOZIC, S, PANDOLFO, M, LAMARCHE, J, DISTEFANO, L, CHANG, L.-J

“…Controversy exists as to the clinical importance, cause, and disease specificity of the cytochrome oxidase (CO) activity reduction observed in some patients…”
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Assembly of cytochrome c oxidase: what can we learn from patients with cytochrome c oxidase deficiency? by Taanman, J W, Williams, S L

“…Cytochrome c oxidase is an intricate metalloprotein that transfers electrons from cytochrome c to oxygen in the last step of the mitochondrial respiratory…”
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A Missense Mutation of Cytochrome Oxidase Subunit II Causes Defective Assembly and Myopathy by Rahman, Shamima, Taanman, Jan-Willem, Cooper, J. Mark, Nelson, Isabelle, Hargreaves, Ian, Meunier, Brigitte, Hanna, Michael G, García, José J., Capaldi, Roderick A., Lake, Brian D., Leonard, James V., Schapira, Anthony H.V.

“…We report the first missense mutation in the mtDNA gene for subunit II of cytochrome c oxidase (COX). The mutation was identified in a 14-year-old boy with a…”
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Diagnostic Value of Succinate Ubiquinone Reductase Activity in the Identification of Patients with Mitochondrial DNA Depletion by Hargreaves, I. P., Rahman, S., Guthrie, P., Taanman, J‐W., Leonard, J. V., Land, J. M., Heales, S. J. R.

“…Mitochondrial DNA (mtDNA) depletion syndrome (McKusick 251880) is characterized by a progressive quantitative loss of mtDNA resulting in severe mitochondrial…”
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Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy by Fassone, Elisa, Taanman, Jan-Willem, Hargreaves, Iain P, Sebire, Neil J, Cleary, Maureen A, Burch, Michael, Rahman, Shamima

“…Hypertrophic cardiomyopathy (HCM) is frequently fatal in infancy. Mitochondrial disease causing infantile HCM is characterised by extreme biochemical and…”
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The mitochondrial genome: structure, transcription, translation and replication by Taanman, Jan-Willem

“…Mitochondria play a central role in cellular energy provision. The organelles contain their own genome with a modified genetic code. The mammalian…”
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