Jan Willem Taanman

Summary

Affiliation: University College London
Country: UK

Publications

  1. ncbi Does doxycycline work in synergy with cisplatin and oxaliplatin in colorectal cancer?
    Jayesh Sagar
    Division of Surgery and Interventional Science, University College London, Gower Street, London, WC1E 6BT, UK
    World J Surg Oncol 7:2. 2009
  2. ncbi 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
  3. ncbi 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
  4. ncbi 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi 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
  8. ncbi 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
  9. ncbi 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
  10. ncbi 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

Collaborators

Detail Information

Publications16

  1. ncbi Does doxycycline work in synergy with cisplatin and oxaliplatin in colorectal cancer?
    Jayesh Sagar
    Division of Surgery and Interventional Science, University College London, Gower Street, London, WC1E 6BT, UK
    World J Surg Oncol 7:2. 2009
    ..This study has looked for any impact of doxycycline on the cytotoxic effects of platinum compounds in colorectal cancer including its mechanisms of actions...
  2. ncbi 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)...
  3. ncbi 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...
  4. ncbi 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...
  5. ncbi 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...
  6. ncbi 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...
  7. ncbi 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
    ....
  8. ncbi 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
    ....
  9. ncbi 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...
  10. ncbi 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...
  11. ncbi 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...
  12. ncbi 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...
  13. ncbi 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...
  14. ncbi 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. ncbi 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...
  16. ncbi 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...