Research Topics
Genomes and Genes
| Jan Willem TaanmanSummaryAffiliation: University College London Country: UK Publications
| Collaborators
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Detail Information
Publications
Assembly of cytochrome c oxidase: what can we learn from patients with cytochrome c oxidase deficiency?J W Taanman
University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, Rowland Hill Street, London NW3 2PF, UK
Biochem Soc Trans 29:446-51. 2001..These studies have allowed us to identify some of the steps of the assembly process...- Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblastsJan Willem Taanman
University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, Rowland Hill Street, London NW3 2PF, UK
Hum Mol Genet 12:1839-45. 2003.... - A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNAJan Willem Taanman
University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, London, United Kingdom
Ann Neurol 52:237-9. 2002..This finding shows that mutations in DGUOK causing mitochondrial DNA depletion are not confined to a single ethnic group... - Analysis of the trinucleotide CAG repeat from the DNA polymerase gamma gene (POLG) in patients with Parkinson's diseaseJan Willem Taanman
University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, Royal Free Campus, Rowland Hill Street, London NW3 2PF, UK
Neurosci Lett 376:56-9. 2005..Our results rule out POLG CAG repeat instability as a common pathogenic mechanism in idiopathic Parkinson's disease... 
Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagyMatthew E Gegg
Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
Hum Mol Genet 19:4861-70. 2010..PINK1 and parkin are thus required for the removal of damaged mitochondria in dopaminergic cells, and inhibition of this pathway may lead to the accumulation of defective mitochondria which may contribute to PD pathogenesis...- Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gammaAlistair T Pagnamenta
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, WC1N 1EH, UK
Hum Reprod 21:2467-73. 2006.... 
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletionJan Willem Taanman
Department of Clinical Neurosciences, Institute of Neurology, University College London, London, United Kingdom
Hum Mutat 30:248-54. 2009..The assays may facilitate the identification of those patients in whom screening for POLG mutations would be most appropriate...- Mutations of cytochrome c oxidase subunits 1 and 3 in Saccharomyces cerevisiae: assembly defect and compensationBrigitte Meunier
Wolfson Institute for Biomedical Research, University College London, Gower Street, London WC1E 6BT, UK
Biochim Biophys Acta 1554:101-7. 2002..Surprisingly, the introduction of the 'human' mutation A224S and of a more drastic change A224F had no effect on the yeast enzyme. This might be explained by differences in local folding in the two enzymes... - Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Jan Willem Taanman
Department of Clinical Neurosciences, Institute of Neurology, University College London, Rowland Hill Street, London, United Kingdom
Neuromuscul Disord 19:151-4. 2009..The patient's fibroblasts showed gradual loss of the mitochondrial DNA-encoded subunit I of cytochrome-c oxidase, suggesting a progressive mitochondrial DNA defect in culture... - Silencing of PINK1 expression affects mitochondrial DNA and oxidative phosphorylation in dopaminergic cellsMatthew E Gegg
Department of Clinical Neurosciences, Institute of Neurology, University College London, Queen Square, London, United Kingdom
PLoS ONE 4:e4756. 2009..The PINK1 protein is a serine/threonine kinase localized in mitochondria and the cytosol. Its precise function is unknown, but it is involved in neuroprotection against a variety of stress signalling pathways... - Analysis of COX2 mutants reveals cytochrome oxidase subassemblies in yeastSusannah Horan
Wolfson Institute for Biomedical Research, University College London, Gower Street, London WC1E 6BT, UK
Biochem J 390:703-8. 2005..The identification of these novel cytochrome oxidase subcomplexes should encourage the reexamination of other yeast mutants... - Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan geneAnjum Misbahuddin
Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK
Mov Disord 22:1173-5. 2007..Molecular genetic analysis revealed a heterozygous point mutation in the epsilon-sarcoglycan gene, which we show leads to skipping of exon 5. This report suggests that the psychiatric spectrum of MDS includes more severe depression... - Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1Sion L Williams
University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, London NW3 2PF, United Kingdom
J Biol Chem 279:7462-9. 2004..Assembly in SURF1-deficient cells appears to stall at the same stage as in SCO1-deficient cells, pointing to a role for SURF1 in promoting the association of MTCO2 with the MTCO1.COX4.COX5A subassembly... - A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophyDawn L Thiselton
Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
Invest Ophthalmol Vis Sci 43:1715-24. 2002.... - Lowering the apoptotic threshold in colorectal cancer cells by targeting mitochondriaJayesh Sagar
Division of Surgery and Interventional Science, University College London, Gower Street, London, WC1E 6BT, UK
Cancer Cell Int 10:31. 2010..In this study, whether doxycycline was apoptosis threshold lowering agent in colorectal cancer cells by targeting mitochondria was answered... - Replication of mitochondrial DNA occurs throughout the mitochondria of cultured human cellsJessica Magnusson
University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, London NW3 2PF, UK
Exp Cell Res 289:133-42. 2003.... - Creation of an open-access, mutation-defined fibroblast resource for neurological disease researchSelina Wray
Department of Molecular Neuroscience, University College London Institute of Neurology, London, United Kingdom
PLoS ONE 7:e43099. 2012..This represents a significant resource that will advance the use of patient cells as disease models by the scientific community... - Mitochondrial single-stranded DNA binding protein is required for maintenance of mitochondrial DNA and 7S DNA but is not required for mitochondrial nucleoid organisationHeini Ruhanen
The Wolfson Institute for Biomedical Research, University College London, Gower Street, London, WC1E 6BT, UK
Biochim Biophys Acta 1803:931-9. 2010..This result suggests that the presence of 7S DNA is not crucial for the organisation of mitochondrial nucleoids... - Intracellular oxygenation and cytochrome oxidase C activity in ischemic preconditioning of steatotic rabbit liverTariq S Hafez
UCL Division of Surgery and Interventional Science, University College London, London, United Kingdom
Am J Surg 200:507-18. 2010..This study aimed to establish whether cytochrome oxidase C (COX) activity is compromised by IRI in fatty liver and whether ischemic preconditioning (IPC) can protect COX activity... - Measurement of kinetic parameters of human platelet DNA polymerase gammaJan Willem Taanman
Department of Clinical Neurosciences, Institute of Neurology, University College London, Rowland Hill Street, London NW3 2PF, United Kingdom
Methods 51:374-8. 2010..With this method, platelets from healthy control subjects extracted with 3% Triton X-100 showed a K(m) for dTTP of 1.42 microM and a V(max) of 0.83 pmol min(-1)mg(-1)... - Kearns-Sayre syndrome caused by defective R1/p53R2 assemblyRobert D S Pitceathly
1MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK
J Med Genet 48:610-7. 2011..The importance of RNR dysfunction in adult mitochondrial disease is unclear... - Increased sensitivity of myoblasts to oxidative stress in amyotrophic lateral sclerosis peripheral tissuesLloyd J Bradley
Department of Clinical Neurosciences, Institute of Neurology, University College London, Rowland Hill Street, London NW3 2PF, England, UK
Exp Neurol 218:92-7. 2009..We do not have a ready method to study this in neural tissue of living patients, but the oxidative stress identified in myoblasts would translate into oxidative damage more readily in motor neurons than in other tissues... - Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissueMichael J Devine
Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom
PLoS ONE 6:e22489. 2011..This work suggests that LRRK2 is unlikely to play a direct role in modulation of gene expression, although it remains possible that this protein can influence mRNA expression under pathogenic cicumstances... - The diagnosis of inherited metabolic diseases by microarray gene expression profilingMonica Arenas Hernandez
Purine Research Laboratory, GSTS Pathology, Guy s and St, Thomas Hospitals, London, UK
Orphanet J Rare Dis 5:34. 2010..We aimed to define gene expression signatures characteristic of defective metabolic pathways... - Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cellsAnjum Misbahuddin
Department of Clinical Neurosciences, Royal Free and University College Medical School, London, United Kingdom
Mov Disord 20:432-40. 2005..Abnormal processing, transport, or entrapment of VMAT2 within the mutant torsinA membranous inclusions, therefore, may affect cellular dopamine release, providing a potential pathogenic mechanism for the DYT1-dependent dystonia... - Assessment of the significance of mitochondrial DNA damage by chemotherapeutic agentsSoo Lo
Department of Oncology, Royal Free and University College Medical School, University College London, London W1P 8BT, UK
Int J Oncol 27:337-44. 2005..Mitochondrial DNA is a critical target for MKT-077 and daunorubicin, and is a potential target for novel chemotherapeutic agents... - Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex IIAlistair T Pagnamenta
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, UK
Mol Genet Metab 89:214-21. 2006..Comparable activities and stability of mitochondrial respiratory chain enzymes were demonstrated in both patients, so other reasons for the phenotypic variability are considered... - Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletionBenedicte Mousson de Camaret
Laboratoire de Biochimie Pédiatrique, Hopital Debrousse, Hospices Civils de Lyon, 69322 Lyon, France
Biochem J 402:377-85. 2007..The residual DGUOK activity may play a crucial role in the phenotype reversal... - Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitisJosef Müller-Höcker
Institute of Pathology, Ludwig Maximilians Universitat Munchen, Munchen, Germany
Hum Pathol 33:247-53. 2002..mtTFA and to a lesser degree mtSSB are reduced in mtDNA depletion of the liver and may, therefore, be of pathogenetic importance. The primary defect, however, is still unknown... - Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseasesChristophe Rocher
U688 INSERM Université Victor Segalen Bordeaux2, 146 rue Leo Saignat, 33076, Bordeaux Cedex, France
J Bioenerg Biomembr 40:59-67. 2008..Our results show that oxidative phosphorylation activities are under a tight control by the amount of mtDNA in the cell, and that the full complement of mtDNA molecules are necessary to maintain a normal energy production level... - Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiencyFrancois Labarthe
Groupement de Médecine Pédiatrique, Hopital Clocheville, CHU Tours, France
J Hepatol 43:333-41. 2005....