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Dr Jan-Willem Taanman

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Personal Profile

Name: Jan-Willem Taanman Email: j.taanman@ucl.ac.uk
Title: Dr Tel: 020 7794 0500
Department: Clinical Neuroscience Fax: 020 7472 6829
Position: Reader in Clinical Neurosciences Address: UCL - Royal Free Campus, Rowland Hill Street, London, NW3 2PF
Research Domain: Basic Life Sciences, Cancer, Genetics (Frontier Disciplines), Neuroscience, Personalised Medicine Web Page:  

Profile

Research Description

My research focuses mainly on the biogenesis of mitochondria and the role of mitochondria in disease. Historically, I have worked on: (1) structure-function relationships and assembly of the terminal mitochondrial respiratory chain enzyme complex cytochrome-c oxidase, and (2) mitochondrial DNA depletion syndrome. Since 2005, I have also studied mitochondrial aspects in Parkinson’s disease. More recent research projects include: (1) the biogenesis of mitochondrial respiratory chain complex I, (2) the glycolytic switch in the progression of colorectal cancer, (3) the influence of mitochondrial DNA level on cellular energy metabolism, (4) the generation of stem cell models of Parkinson's disease, and (5) the mitochondrial metabolic signature in peripheral tissues of Huntington’s disease patients.


Research Activities

A systematic investigation into the pathogenesis and course of Parkinson's syndrome

Biogenesis of mitochondrial respiratory chain complex I: relevance to paediatric neurological disease and pathology

Disorders of mitochondrial DNA maintenance

Dopaminergic neuronal differentiation of human adipose stem cells

Inducible pluripotent stem cells from a family with rapid-onset dystonia-parkinsonism

Influence of mitochondrial DNA level on energy metabolism: Implications for mitochondrial disease

Mitochondrial and metabolic signature(s) in multiple peripheral tissues of Huntington’s patients

The glycolytic switch in the progression of colorectal cancer.

Education Description

Supervision of research projects of BSc students (Biochemistry, Biomedical Sciences, Biological Sciences, Biotechnology, Genetics, Human Genetics, Molecular Biology, Physiology) and MSc students (Clinical Neurosciences).

UCL Collaborators

Prof Tarek Yousry; Prof John Hardy; Dr Jose Tomas Bras; Dr Laura Silveira Moriyama; Dr Andrey Abramov; Dr Mark Cooper; Prof Andrew Lees; Dr Helen Ling; Dr Shamima Rahman; Prof Barry Fuller; Dr Derralynn Hughes; Prof Michael Duchen; Prof Kailash Bhatia; Prof Tony Schapira; Dr Rita Louro Guerreiro; Prof Brian Davidson; Prof Nicholas Wood; Prof Tamas Revesz; Prof Tom Warner

External Collaborators

Dr Dario Alessi; Dr Michael Orth; Dr James Martin Staddon; Dr Christophe Rocher; Dr Thierry Letelier; Dr Alexander James Whitworth; Dr Atul Mehta; Prof Pascal Reynier

Publications

    2014

    • Kroon AM, Taanman JW (2014). Comment on "aneurysmal lesions of patients with abdominal aortic aneurysm contain clonally expanded T cells".. J Immunol, 193(5), 2041 - . doi:10.4049/jimmunol.1401520
    • Cubas V, Taanman J-W, Ogunbiyi O, Fuller B, Davidson B, Dijk SN (2014). Cytochrome-C activity in human primary and metastatic colorectal tumours.

    2013

    • Pitceathly RDS, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, Taanman J-W, Hanna MG (2013). NDUFA4 mutations underlie dysfunction of a cytochrome C oxidase subunit linked to human neurological disease. Cell Reports, 4(2), 402 - 402. doi:10.1016/j.celrep.2013.06.032
    • Pitceathly RD, Taanman JW, Rahman S, Meunier B, Sadowski M, Cirak S, Hargreaves I, Land JM, Nanji T, Polke JM, Woodward CE, Sweeney MG, Solanki S, Foley AR, Hurles ME, Stalker J, Blake J, Holton JL, Phadke R, Muntoni F, Reilly MM, Hanna MG (2013). COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood. JAMA Neurol., , - . doi:10.1001/jamaneurol.2013.3242
    • Manzoni C, Mamais A, Dihanich S, McGoldrick P, Devine MJ, Zerle J, Kara E, Taanman JW, Healy DG, Marti-Masso JF, Schapira A, Plun-Favreau H, Tooze S, Hardy J, Bandopadhyay R, Lewis PA (2013). Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation.. Biochem Biophys Res Commun, , - . doi:10.1016/j.bbrc.2013.10.159
    • Pitceathly RD, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, UK10K Consortium , Taanman JW, Hanna MG (2013). NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease.. Cell Rep, , - . doi:10.1016/j.celrep.2013.05.005
    • McNeill A, Healy DG, Schapira AH, Taanman JW (2013). Glucosylceramidase degradation in fibroblasts carrying bi-allelic Parkin mutations.. Mol Genet Metab, , - . doi:10.1016/j.ymgme.2013.06.002
    • Gegg ME, Cooper JM, Chau K-Y, Rojo M, Schapira AHV, Taanman J-W (2013). Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy (vol 19, pg 4861, 2010). HUMAN MOLECULAR GENETICS, 22(8), 1697 - 1697. doi:10.1093/hmg/ddt046
    • Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S (2013). HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.. Orphanet J Rare Dis, 8(1), 188 - . doi:10.1186/1750-1172-8-188

    2012

    • Fassone E, Taanman JW, Sweeney MG, Woodward C, Hargreaves IP, Hanna MG, Taylor RW, Duncan AJ, Rahman S (2012). WHOLE EXOME SEQUENCING REVEALS THAT SUBUNIT MUTATIONS ARE PREVALENT IN COMPLEX I DEFICIENT LEIGH SYNDROME.
    • Wray S, Self M, NINDS Parkinson's Disease iPSC Consortium , NINDS Huntington's Disease iPSC Consortium , NINDS ALS iPSC Consortium , Lewis PA, Taanman JW, Ryan NS, Mahoney CJ, Liang Y, Devine MJ, Sheerin UM, Houlden H, Morris HR, Healy D, Marti-Masso JF, Preza E, Barker S, Sutherland M, Corriveau RA, D'Andrea M, Schapira AH, Uitti RJ, Guttman M, Opala G, Jasinska-Myga B, Puschmann A, Nilsson C, Espay AJ, Slawek J, Gutmann L, Boeve BF, Boylan K, Stoessl AJ, Ross OA, Maragakis NJ, Van Gerpen J, Gerstenhaber M, Gwinn K, Dawson TM, Isacson O, Marder KS, Clark LN, Przedborski SE, Finkbeiner S, Rothstein JD, Wszolek ZK, Rossor MN, Hardy J (2012). Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.. PLoS One, 7(8), e43099 - . doi:10.1371/journal.pone.0043099
    • Devine MJ, Kaganovich A, Ryten M, Mamais A, Trabzuni D, Manzoni C, McGoldrick P, Chan D, Dillman A, Zerle J, Horan S, Taanman JW, Hardy J, Marti-Masso JF, Healy D, Schapira AH, Wolozin B, Bandopadhyay R, Cookson MR, van der Brug MP, Lewis PA (2012). Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.. PLoS One, 7(1), - . doi:10.1371/annotation/c12e4f9e-5aae-424b-a69f-fddf16976dc5

    2011

    • Gurusamy KS, Farooqui N, Loizidou M, Dijk S, Taanman JW, Whiting S, Farquharson MJ, Fuller BJ, Davidson BR (2011). Influence of zinc and zinc chelator on HT-29 colorectal cell line.. Biometals, 24(1), 143 - 151. doi:10.1007/s10534-010-9382-5
    • Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindzicz M, Rahman S (2011). BIOCHEMICAL AND MOLECULAR ANALYSIS IN MITOCHONDRIAL COMPLEX I DEFICIENT CHILDREN.
    • Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S (2011). Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.. J Med Genet, 48(10), 691 - 697. doi:10.1136/jmedgenet-2011-100340
    • Pitceathly RDS, Fassone E, Taanman JW, Sadowski M, Fratter C, Mudanohwo EE, Woodward CE, Sweeney MG, Holton JL, Hanna MG, Rahman S (2011). Kearns-Sayre syndrome caused by defective R1/p53R2 assembly. J MED GENET, 48(9), 610 - 617. doi:10.1136/jmg.2010.088328
    • Devine MJ, Kaganovich A, Ryten M, Mamais A, Trabzuni D, Manzoni C, McGoldrick P, Chan D, Dillman A, Zerle J, Horan S, Taanman JW, Hardy J, Marti-Masso JF, Healy D, Schapira AH, Wolozin B, Bandopadhyay R, Cookson MR, van der Brug MP, Lewis PA (2011). Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue.. PLoS One, 6(7), e22489 - . doi:10.1371/journal.pone.0022489
    • Taanman JW, Rahman S, Clayton P, Leonard JV, King R, Orth M (2011). Mitochondrial respiratory chain enzyme deficiency expressed during muscle development.
    • Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski M, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindzicz M, Rahman S (2011). Mutations in the novel chaperone FOXRED1 cause mitochondrial complex I deficiency.
    • Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindzicz M, Rahman S (2011). FOXRED1 mutations are a novel cause of mitochondrial complex I deficiency.
    • Pitceathly RDS, Fassone E, Taanman JW, Sadowski M, Fratter C, Mudanohwo EE, Woodward CE, Sweeney MG, Holton JL, Hanna MG, Rahman S (2011). KEARNS-SAYRE SYNDROME CAUSED BY MUTATIONS IN THE NUCLEAR RRM2B GENE.
    • Fassone E, Taanman JW, Duncan A, Rahman S (2011). 14 Mitochondrial cardiomyopathy caused by defective assembly of respiratory chain complex I.. doi:10.1136/heartjnl-2011-301156.14
    • Casper CJ, Warner TT, Taanman JW, Nathwani AC (2011). Generation of iPS-derived dopaminergic neurons as an in-vitro model of Rapid-Onset Dystonia Parkinsonism. HUMAN GENE THERAPY, 22(10), A42 - A43.
    • Devine MJ, Ryten M, Vodicka P, Thomson AJ, Burdon T, Houlden H, Cavaleri F, Nagano M, Drummond NJ, Taanman JW, Schapira AH, Gwinn K, Hardy J, Lewis PA, Kunath T (2011). Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus.. Nat Commun, 2, 440 - . doi:10.1038/ncomms1453
    • Pitceathly RD, Fassone E, Taanman JW, Sadowski M, Fratter C, Mudanohwo EE, Woodward CE, Sweeney MG, Holton JL, Hanna MG, Rahman S (2011). Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.. J Med Genet, 48(9), 610 - 617. doi:10.1136/jmg.2010.088328

    2010

    • Gurusamy KS, Farooqui N, Loizidou M, Dijk S, Taanman JW, Whiting S, Farquharson MJ, Fuller BJ, Davidson BR (2010). Influence of zinc and zinc chelator on HT-29 colorectal cell line.
    • Gegg ME, Cooper JM, Chau KY, Rojo M, Schapira AH, Taanman JW (2010). Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy.. Hum Mol Genet, 19(24), 4861 - 4870. doi:10.1093/hmg/ddq419
    • Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindzicz M, Rahman S (2010). FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.. Hum Mol Genet, 19(24), 4837 - 4847. doi:10.1093/hmg/ddq414
    • Ruhanen H, Borrie S, Szabadkai G, Tyynismaa H, Jones AWE, Kang D, Taanman J-W, Yasukawa T (2010). Mitochondrial single-stranded DNA binding protein is required for maintenance of mitochondrial DNA and 7S DNA but is not required for mitochondrial nucleoid organization.. Biochim Biophys Acta., 1803(8), 931 - 939. doi:10.1016/j.bbamcr.2010.04.008
    • Ginsberg L, Taanman JW (2010). POG01 Anti-thymidine phosphorylase antibodies in the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy.. J Neurol Neurosurg Psychiatry, 81(11), e48 - . doi:10.1136/jnnp.2010.226340.123
    • Sagar J, Sales K, Taanman JW, Dijk S, Winslet M (2010). Lowering the apoptotic threshold in colorectal cancer cells by targeting mitochondria.. Cancer Cell Int, 10, 31 - . doi:10.1186/1475-2867-10-31
    • Hafez TS, Glantzounis GK, Fusai G, Taanman JW, Wignarajah P, Parkes H, Fuller B, Davidson BR, Seifalian AM (2010). Intracellular oxygenation and cytochrome oxidase C activity in ischemic preconditioning of steatotic rabbit liver.. Am J Surg, 200(4), 507 - 518. doi:10.1016/j.amjsurg.2009.09.028
    • Taanman JW, Heiske M, Letellier T (2010). Measurement of kinetic parameters of human platelet DNA polymerase gamma.. Methods, 51(4), 374 - 378. doi:10.1016/j.ymeth.2010.03.002
    • Hernandez MA, Schulz R, Chaplin T, Young BD, Perrett D, Champion MP, Taanman JW, Fensom A, Marinaki AM (2010). The diagnosis of inherited metabolic diseases by microarray gene expression profiling.. Orphanet J Rare Dis, 5, 34 - . doi:10.1186/1750-1172-5-34

    2009

    • Taanman JW, Rahman S, Pagnamenta AT, Morris AA, Bitner-Glindzicz M, Wolf NI, Leonard JV, Clayton PT, Schapira AH (2009). Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. Hum.Mutat., 30(2), 248 - 254.
    • Poulton J, Hirano M, Spinazzola A, Arenas Hernandez M, Jardel C, Lombès A, Czermin B, Horvath R, Taanman JW, Rotig A, Zeviani M, Fratter C (2009). Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).. Biochim Biophys Acta, 1792(12), 1109 - 1112. doi:10.1016/j.bbadis.2009.08.016
    • Grunewald A, Gegg ME, Taanman JW, King RH, Kock N, Klein C, Schapira AH (2009). Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology. Exp.Neurol., 219(1), 266 - 273.
    • Bradley LJ, Taanman JW, Kallis C, Orrell RW (2009). Increased sensitivity of myoblasts to oxidative stress in amyotrophic lateral sclerosis peripheral tissues. Experimental Neurology, 218(1), 92 - 97. doi:10.1016/j.expneurol.2009.04.007
    • Sagar J, Sales K, Dijk S, Taanman J, Seifalian A, Winslet M (2009). Does doxycycline work in synergy with cisplatin and oxaliplatin in colorectal cancer?. World J Surg Oncol, 7, 2 - . doi:10.1186/1477-7819-7-2
    • Grunewald A, Gegg ME, Taanman JW, King RH, Klein C, Schapira A (2009). Differential Effects of PINK1 Nonsense and Missense Mutations on Mitochondrial Function and Morphology.
    • Gegg ME, Cooper JM, Schapira AH, Taanman JW (2009). Silencing of PINK1 expression affects mitochondrial DNA and oxidative phosphorylation in dopaminergic cells. PLoS.One., 4(3), e4756 - .
    • Taanman JW, Daras M, Albrecht J, Davie CA, Mallam EA, Muddle JR, Weatherall M, Warner TT, Schapira AH, Ginsberg L (2009). Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Neuromuscul.Disord., 19(2), 151 - 154.
    • Sagar J, Sales K, Dijk S, Taanman J, Seifalian A, Winslet M (2009). Does Doxycycline work in synergy with cisplatin and oxaliplatin in colorectal cancer?. WORLD J SURG ONCOL, 7, - . doi:10.1186/1477-7819-7-2
    • Wolf NI, Rahman S, Schmitt B, Taanman JW, Duncan AJ, Harting I, Wohlrab G, Ebinger F, Rating D, Bast T (2009). Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features.. Epilepsia, 50(6), 1596 - 1607. doi:10.1111/j.1528-1167.2008.01877.x

    2008

    • Rocher C, Taanman JW, Pierron D, Faustin B, Benard G, Rossignol R, Malgat M, Pedespan L, Letellier T (2008). Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases.. J Bioenerg Biomembr, 40(2), 59 - 67. doi:10.1007/s10863-008-9130-5
    • Ginsberg L, Taanman JW (2008). Anti-thymidine phosphorylase antibodies in the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy.

    2007

    • Ginsberg L, Daras M, Davie C, Albrecht J, Schapira AHV, Weatherall M, Taanman JW (2007). A novel MNGIE mutation.
    • Misbahuddin A, Placzek M, Lennox G, Taanman JW, Warner TT (2007). Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene. Movement Disorders, 22(8), 1173 - 1175.
    • Ginsberg L, Schapira AH, Taanman JW (2007). Relapsing neuropathy in an 18-year-old woman.. The Lancet Neurology, 6(2), 192 - 198.
    • Mousson de Camaret B, Taanman JW, Padet S, Chassagne M, Mayencon M, Clerc-Renaud P, Mandon G, Zabot MT, Lachaux A, Bozon D (2007). Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.. Biochemical Journal, 402(2), 377 - 385. doi:10.1042/BJ20060705

    2006

    • Pagnamenta AT, Hargreaves IP, Duncan AJ, Taanman JW, Heales SJ, Land JM, Bitner-Glindzicz M, Leonard JV, Rahman S (2006). Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. Molecular Genetics and Metabolism, 89(3), 214 - 221. doi:10.1016/j.ymgme.2006.05.003
    • Pagnamenta AT, Taanman JW, Wilson CJ, Anderson NE, Marotta R, Duncan AJ, Bitner-Glindzicz M, Taylor RW, Laskowski A, Thorburn DR, Rahman S (2006). Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. Human Reproduction, 21(10), 2467 - 2473. doi:10.1093/humrep/del076
    • Ginsberg L, Taanman JW (2006). MNGIE neuropathy mimicking Guillain-Barre syndrome.

    2005

    • Proukakis C, Cooper JM, Taanman JW, Warner TT (2005). Cellular studies of spastin reveal no gain of function, and suggest translation from the 2nd ATG. EUR J NEUROL, 12, 323 - 323.
    • Lo S, Tolner B, Taanman JW, Cooper JM, Gu M, Hartley JA, Schapira AH, Hochhauser D (2005). Assessment of the significance of mitochondrial DNA damage by chemotherapeutic agents.. International Journal of Oncology, 27(2), 337 - 344.
    • Taanman JW, Schapira AHV (2005). Analysis of the trinucleotide CAG repeat from the DNA polymerase gamma gene (POLG) in patients with Parkinson's disease. Neuroscience Letters, 376(1), 56 - 59.
    • Labarthe F, Dobbelaere D, Devisme L, De Muret A, Jardel C, Taanman JW, Gottrand F, Lonmbes A (2005). CLINICAL, BIOCHEMICAL AND MORPHOLOGICAL FEATURES OF HEPATOCEREBRAL SYNDROME WITH MITOCHONDRIAL DNA DEPLETION DUE TO DEOXYGUANOSINE KINASE DEFICIENCY. J INHERIT METAB DIS, 28, 128 - 128.
    • Labarthe F, Dobbelaere D, Devisme L, De Muret A, Jardel C, Taanman JW, Gottrand F, Lombes A (2005). Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency.. Journal of Hepatology, 43(2), 333 - 341.
    • Misbahuddin A, Placzek MR, Taanman JW, Gschmeissner S, Schiavo G, Cooper JM, Warner TT (2005). 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.. Mov Disord, 20(4), 432 - 440. doi:10.1002/mds.20351
    • Taanman J-W, Williams SL (2005). The human mitochondrial genome: mechanisms of expression and maintenance. In Berdanier CD (Ed.), Mitochondria in health and disease (pp. 95 - 246). : CRC Press/Taylor & Francis Group.
    • Horan S, Bourges I, Taanman JW, Meunier B (2005). Analysis of COX2 mutants reveals cytochrome oxidase subassemblies in yeast.. Biochemical Journal, 390(3), 703 - 708.

    2004

    • Proukakis C, Taanman JW, Cooper JM, Warner TT (2004). Cellular studies of spastin, the protein commonly mutated in autosomal dominant hereditary spastic paraplegia (SPG4).
    • de Camaret BM, Texier A, Besson S, Chassagne M, Padet S, Raphat M, Mandon G, Zabot MT, Clerc-Renaud P, Stepien G, Taanman JW (2004). Biochemical and molecular investigations in patients with mitochondrial DNA depletion and dGK gene mutations.
    • Taanman JW, Orth M, Williams S, Oluwole I, Rahman S, Clayton P, Leonard J (2004). Respiratory chain enzyme deficiency expressed during muscle development.
    • Williams SL, Valnot I, Rustin P, Taanman JW (2004). Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1.. Journal of Biological Chemistry, 279(9), 7462 - 7469. doi:10.1074/jbc.M309232200

    2003

    • Magnusson J, Orth M, Lestienne P, Taanman JW (2003). Replication of mitochondrial DNA occurs throughout the mitochondria of cultured human cells. Experimental Cell Research, 289(1), 133 - 142. doi:10.1016/S0014-4827(03)00249-0
    • Taanman JW, Muddle JR, Muntau AC (2003). Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts. Human Molecular Genetics, 12(15), 1839 - 1845. doi:10.1093/hmg/ddg192
    • Misbahuddin A, Placzek MR, Taanman JW, Cooper JM, Warner TT (2003). Study of mutant and wild type torsin A in human SH-SY5Y cell lines.
    • Taanman JW (2003). Transcription and translation of mitochondrial DNA. In Holt IJ (Ed.), Genetics of Mitochondrial Diseases (pp. 27 - 47). : Oxford Press.
    • Bradley LJ, Muddle JR, Taanman JW, Orrell R (2003). Investigation of intercellular differences of mitochondrial protein expression in amyotrophic lateral sclerosis. ALS and other Motor Neuron Disorders, 4S1, 87 - 88.

    2002

    • Taanman JW, Kateeb I, Muntau AC, Jaksch M, Cohen N, Mandel H (2002). A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA.. Annals of Neurology, 52(2), 237 - 239. doi:10.1002/ana.10247
    • Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M (2002). A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.. Invest Ophthalmol Vis Sci, 43(6), 1715 - 1724.
    • Placzek MR, Misbahuddin A, Taanman JW, Cooper JM, Warner TT (2002). Study of mutant and wild-type torsinA in human SH-SY5Y cell lines.
    • Hargreaves IP, Rahman S, Guthrie P, Taanman JW, Leonard JV, Land JM, Heales SJR (2002). Diagnostic value of succinate ubiquinone reductase activity in the identification of patients with mitochondrial DNA depletion. Journal of Inherited Metabolic Disease, 25(1), 7 - 16.
    • Taanman JW, Williams SL (2002). Structure and function of the mitochondrial oxidative phosphorylation system. In Schapira AH, DiMauro S (Ed.), Mitochondrial Disorders in Neurology 2 (pp. 1 - 34). : Butterworth Heinemann.
    • Taanman JW (2002). Cytochrome-c. In Creighton TE (Ed.), Wiley Encyclopedia of Molecular Medicine (pp. 982 - 985). : John Wiley & Sons.
    • Taanman JW (2002). Cytochrome-c oxidase. In Creighton TE (Ed.), Wiley Encyclopedia of Medicine (pp. 985 - 988). : John Wiley & Sons.
    • Thiselton DL, Alexander S, Taanman JW, Brooks S, Rosenberg T, Mackey DA, Andreasson S, Van Regemorter N, Munier F, Moore AT, Bhattacharya SS, Votruba M (2002). A comprehensive survey of spectrum of mutations in the OPA1 gene in patients with optic atrophy. Investigative Ophthalmology and Visual Science, 43, 1715 - 1724.
    • Meunier B, Taanman JW (2002). Mutations of cytochrome c oxidase subunits 1 and 3 in Saccharomyces cerevisiae: assemble defect and compensation. Biochimica et Biophysica Acta (BBA) - Bioenergetics, 1554, 101 - 107.

    2001

    • Von Kleist-Retzow J-C, Yao J, Taanman J-W, Chantrel K, Chretien D, Cormier-Daire V, Rőtig A, Munnich A, Rustin P, Shoubridge EA (2001). Mutations in SURF1 are not specifically associated with Leigh syndrome. Journal of Medical Genetics, 38(2), 109 - 113. doi:10.1136/jmg.38.2.109
    • De Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, Benayoun E, Chretien D, Kadhom N, Lombes A, de Baulny HO, Niaudet P, Munnich M, Rustin P, Rotig A (2001). A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nature Genetics, 29(1), 57 - 60.
    • Taanman JW (2001). A nuclear modifier for a mitochondrial DNA disorder. Trends in Genetics, 17(11), 609 - 611.
    • de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, Chretien D, Kadhom N, Lombes A, de Baulny HO, Niaudet P, Munnich A, Rustin P, Rotig A (2001). Mutations in BCS1, a mitochondrial respiratory chain assembly gene, are responsible for complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.. AM J HUM GENET, 69(4), 489 - 489.
    • Williams SL, Taanman JW, Hansikova H, Houst'kova H, Chowdhury S, Zeman J, Houstek J (2001). A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis. Molecular Genetics and Metabolism, 73(4), 340 - 343.
    • Williams SL, Scholte HR, Gray RGF, Leonard JV, Schapira AHV, Taanman JW (2001). Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit. Laboratory Investigation, 81(8), 1069 - 1077.
    • Taanman JW, Williams SL (2001). Assembly of cytochrome c oxidase: what can we learn from patients with cytochrome c oxidase deficiency?. Biochemical Society Transactions, 29(Pt 4), 446 - 451.

    2000

    • Tiranti V, Corona P, Greco M, Taanman JW, Carrara F, Lamantea E, Nijtmans L, Uziel G, Zeviani M (2000). 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. Human Molecular Genetics, 9(18), 2733 - 2742.
    • Tiranti V, Corona P, Greco M, Taanman JW, Carrara F, Zeviani M (2000). Two novel mutations in mtDNA structural genes.. AM J HUM GENET, 67(4), 294 - 294.
    • Taanman JW, Williams SL, Morris AAM, Cooper JM, Clayton PT, Leonard JV, Schapira AHV (2000). Mitochondrial DNA depletion syndrome: A familial disorder showing variable clinical penetration. ANN NEUROL, 48(3), 438 - 438.
    • Tabrizi SJ, Orth M, Wilkinson JM, Taanman JW, Warner TT, Cooper JM, Schapira AHV (2000). Expression of mutant alpha-synuclein causes increased susceptibility to dopamine toxicity. Human Molecular Genetics, 9(18), 2683 - 2689.
    • Solin ML, Pitkanen S, Taanman JW, Holthofer H (2000). Mitochondrial dysfunction in congenital nephrotic syndrome. Laboratory Investigation, 80(8), 1227 - 1232.
    • Valnot I, Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, Rustin P, Tzagoloff A, Munnich A, Rotig A (2000). A mutation in the human heme A : farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency. Human Molecular Genetics, 9(8), 1245 - 1249.
    • Rahman S, Lake BD, Taanman JW, Hanna MG, Cooper JM, Shapira AHV, Leonard JV (2000). Cytochrome C oxidase immunohistochemistry: Clues for genetic mechanisms. Brain, 123(3), 591 - 600.

    1999

    • Tabrizi SJ, Cleeter MW, Xuereb J, Taanman JW, Cooper JM, Schapira AH (1999). Biochemical abnormalities and excitotoxicity in Huntington's disease brain.. Annals of Neurology, 45(1), 25 - 32.
    • Blake JC, Taanman JW, Morris AM, Gray RG, Cooper JM, McKiernan PJ, Leonard JV, Schapira AH (1999). Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures.. American Journal of Pathology, 155(1), 67 - 70.
    • Von Kleist-Retzow J-C, Vail E, Chantrel-Groussard K, Rőtig A, Munnich A, Rustin P, Taanman J-W (1999). Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency. Biochimica et Biophysica Acta (BBA) - Bioenergetics, 1455(1), 35 - 44. doi:10.1016/S0925-4439(99)00050-2
    • Taanman JW (1999). The mitochondrial genome: structure, transcription, translation and replication.. Biochimica et Biophysica Acta (BBA) - Bioenergetics, 1410(2), 103 - 123.
    • Kish SJ, Mastrogiacomo F, Guttman M, Furukawa Y, Taanman J-W, Dožić S, Pandolfo M, Lamarche J, DiStefano L, Chang LJ (1999). Decreased brain protein levels of cytochrome oxidase subunits in Alzheimer's disease and in hereditary spinocerebellar ataxia disorders: a nonspecific change?. Journal of Neurochemistry, 72(2), 700 - 707. doi:10.1046/j.1471-4159.1999.0720700.x
    • Rahman S, Taanman JW, Cooper JM, Nelson I, Hargreaves I, Meunier B, Hanna MG, Garcia JJ, Capaldi RA, Lake BD, Leonard JV, Schapira AHV (1999). A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. The American Journal of Human Genetics, 65(4), 1030 - 1039.
    • Von Kleist-Retzow J, Vial E, Chantrel-Groussard K, Rotig A, Munnic A, Rustin P, Taanman JW (1999). Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency.. AM J HUM GENET, 65(4), A431 - A431.

    1998

    • Nijtmans LG, Taanman JW, Muijsers AO, Speijer D, Van den Bogert C (1998). Assembly of cytochrome-c oxidase in cultured human cells.. Eur J Biochem, 254(2), 389 - 394.
    • Morris AAM, Taanman JW, Blake J, Copper JM, Lake BD, Malone M, Love S, Clayton P, Leonard JV, Schapira AHV (1998). Liver failure associated with mitochondrial DNA depletion. Journal of Hepatology, 28, 556 - 563.
    • Schapira AHV, Gu M, Taanman JW, Tabrizi SJ, Seaton T, Cleeter M, Cooper JM (1998). Mitochondria in the etiology and pathogenesis of Parkinson's disease. Annals of Neurology, 44 (S1, S89 - S98.
    • Gu M, Cooper JM, Taanman JW, Schapira AHV (1998). Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease. Annals of Neurology, 44(2), 177 - 186.
    • Cock H, Taanman J-W, Schapira AHV (1998). Mitochondrial DNA mutations and nuclear mitochondrial interactions in human disease. In Papa C, Guerrieri F, Tager JM (Ed.), Frontiers of cellular bioenergetics: molecular biology, biochemistry, and physiopathology (pp. 635 - 663). : Pleum Pub Corp.

    1997

    • Blake JC, Taanman JW, Leonard JV, Cooper JM, Schapira AHV (1997). Molecular mechanisms in mitochondrial DNA depletion syndrome. NEUROLOGY, 48(3), 4082 - 4082.
    • Taanman JW, Bodnar AG, Cooper JM, Morris AAM, Clayton PT, Leonard JV, Schapira AHV (1997). Molecular mechanisms in mitochondrial DNA depletion syndrome. Human Molecular Genetics, 6(6), 935 - 942.

    1989

    • Taanman JW, Schrage C, Ponne N, Bolhuis P, de Vries H, Agsteribbe E (1989). Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c oxidase.. Nucleic Acids Res, 17(4), 1766 - .

    1987

    • AGSTERIBBE E, VANFAASSEN H, REVERSMA T, TAANMAN JW, PANNEKOEK H, VERWEIJ CL, BERGER R (1987). TYPE-I HEREDITARY TYROSINEMIA - CHARACTERIZATION OF HUMAN CDNA CLONES ENCODING PEPTIDES IMMUNE-REACTING WITH ANTIBODIES AGAINST FUMARYLACETOACETASE FROM BEEF-LIVER. PEDIATR RES, 22(2), 237 - 237.

    1986

    • BERGER R, VANFAASSEN H, TAANMAN JW, DEVRIES H, AGSTERIBBE E (1986). TYPE-I HEREDITARY TYROSINEMIA - LACK OF IMMUNOLOGICALLY DETECTABLE FUMARYLACETOACETASE ENZYME PROTEIN IN TISSUES FROM PATIENTS. PEDIATR RES, 20(10), 1043 - 1043.

    • Bradley LJ, Taanman J-W, Kallis C, Orrell RW (). Increased sensitivity of myoblasts to oxidative stress in amyotrophic lateral sclerosis peripheral tissues.. Experimental Neurology, , - .