Jan Willem Taanman

Summary

Affiliation: University College London
Country: UK

Publications

  1. ncbi request reprint 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
  2. ncbi request reprint Analysis of the trinucleotide CAG repeat from the DNA polymerase gamma gene (POLG) in patients with Parkinson's disease
    Jan 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
  3. ncbi request reprint Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts
    Jan 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
  4. ncbi request reprint A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA
    Jan 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
  5. ncbi request reprint Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells
    Anjum Misbahuddin
    Department of Clinical Neurosciences, Royal Free and University College Medical School, London, United Kingdom
    Mov Disord 20:432-40. 2005
  6. ncbi request reprint Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II
    Alistair T Pagnamenta
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, UK
    Mol Genet Metab 89:214-21. 2006
  7. pmc Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy
    Matthew E Gegg
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Hum Mol Genet 19:4861-70. 2010
  8. ncbi request reprint Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma
    Alistair T Pagnamenta
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, WC1N 1EH, UK
    Hum Reprod 21:2467-73. 2006
  9. ncbi request reprint Assessment of the significance of mitochondrial DNA damage by chemotherapeutic agents
    Soo 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
  10. ncbi request reprint Relapsing neuropathy in an 18-year-old woman
    Lionel Ginsberg
    University Department of Clinical Neurosciences, Hampstead Campus, Royal Free and University College Medical School, University College London, UK
    Lancet Neurol 6:192-8. 2007

Detail Information

Publications33

  1. ncbi request reprint 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...
  2. ncbi request reprint Analysis of the trinucleotide CAG repeat from the DNA polymerase gamma gene (POLG) in patients with Parkinson's disease
    Jan 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...
  3. ncbi request reprint Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts
    Jan 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
    ....
  4. ncbi request reprint A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA
    Jan 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...
  5. ncbi request reprint Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells
    Anjum 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...
  6. ncbi request reprint Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II
    Alistair 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...
  7. pmc Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy
    Matthew 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...
  8. ncbi request reprint Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma
    Alistair T Pagnamenta
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, WC1N 1EH, UK
    Hum Reprod 21:2467-73. 2006
    ....
  9. ncbi request reprint Assessment of the significance of mitochondrial DNA damage by chemotherapeutic agents
    Soo 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...
  10. ncbi request reprint Relapsing neuropathy in an 18-year-old woman
    Lionel Ginsberg
    University Department of Clinical Neurosciences, Hampstead Campus, Royal Free and University College Medical School, University College London, UK
    Lancet Neurol 6:192-8. 2007
  11. doi request reprint Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion
    Jan 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...
  12. doi request reprint 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...
  13. ncbi request reprint Mutations of cytochrome c oxidase subunits 1 and 3 in Saccharomyces cerevisiae: assembly defect and compensation
    Brigitte 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...
  14. pmc Silencing of PINK1 expression affects mitochondrial DNA and oxidative phosphorylation in dopaminergic cells
    Matthew 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...
  15. pmc Lowering the apoptotic threshold in colorectal cancer cells by targeting mitochondria
    Jayesh 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...
  16. doi request reprint Increased sensitivity of myoblasts to oxidative stress in amyotrophic lateral sclerosis peripheral tissues
    Lloyd 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...
  17. doi request reprint Measurement of kinetic parameters of human platelet DNA polymerase gamma
    Jan 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)...
  18. ncbi request reprint Mitochondrial single-stranded DNA binding protein is required for maintenance of mitochondrial DNA and 7S DNA but is not required for mitochondrial nucleoid organisation
    Heini 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...
  19. ncbi request reprint Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene
    Anjum 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...
  20. ncbi request reprint A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy
    Dawn L Thiselton
    Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
    Invest Ophthalmol Vis Sci 43:1715-24. 2002
    ....
  21. pmc Analysis of COX2 mutants reveals cytochrome oxidase subassemblies in yeast
    Susannah 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...
  22. ncbi request reprint Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1
    Sion 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...
  23. ncbi request reprint Replication of mitochondrial DNA occurs throughout the mitochondria of cultured human cells
    Jessica 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
    ....
  24. doi request reprint HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase
    Sacha Ferdinandusse
    Metabolic Unit, Great Ormond Street Hospital, London, UK
    Orphanet J Rare Dis 8:188. 2013
    ..Impaired biosynthesis of iron-sulphur clusters and lipoic acid can lead to pyruvate dehydrogenase complex (PDHc) deficiency in addition to multiple RC deficiencies, known as the multiple mitochondrial dysfunctions syndrome...
  25. pmc Creation of an open-access, mutation-defined fibroblast resource for neurological disease research
    Selina 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...
  26. doi request reprint Intracellular oxygenation and cytochrome oxidase C activity in ischemic preconditioning of steatotic rabbit liver
    Tariq 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...
  27. doi request reprint Kearns-Sayre syndrome caused by defective R1/p53R2 assembly
    Robert 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...
  28. pmc The diagnosis of inherited metabolic diseases by microarray gene expression profiling
    Monica 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...
  29. pmc Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue
    Michael 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...
  30. pmc Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion
    Benedicte 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...
  31. ncbi request reprint Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency
    Francois Labarthe
    Groupement de Médecine Pédiatrique, Hopital Clocheville, CHU Tours, France
    J Hepatol 43:333-41. 2005
    ....
  32. ncbi request reprint Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis
    Josef 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...
  33. doi request reprint Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases
    Christophe 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...