J. Taanman

H. Schägger, M. Kretzler, D. Kerjaschki, 1999, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Increased sensitivity of myoblasts to oxidative stress in amyotrophic lateral sclerosis peripheral tissues

R. Orrell, J. Taanman, C. Kallis, 2009, Experimental Neurology.

Expression of mutant alpha-synuclein causes increased susceptibility to dopamine toxicity.

S. Tabrizi, J. Cooper, A. Schapira, 2000, Human molecular genetics.

Mitochondria in the etiology and pathogenesis of parkinson's disease

S. Tabrizi, A. Schapira, J. Cooper, 1998, Annals of neurology.

Analysis of the trinucleotide CAG repeat from the DNA polymerase γ gene (POLG) in patients with Parkinson's disease

A. Schapira, J. Taanman, 2005, Neuroscience Letters.

Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research

Martin N. Rossor, Margaret Sutherland, Colin J. Mahoney, 2012, PloS one.

Glucosylceramidase degradation in fibroblasts carrying bi-allelic Parkin mutations.

A. Schapira, D. Healy, A. McNeill, 2013, Molecular genetics and metabolism.

Pathogenic Parkinson’s disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation☆

Michael J. Devine, J. Hardy, A. Schapira, 2013, Biochemical and biophysical research communications.

Myoclonus–dystonia syndrome with severe depression is caused by an exon‐skipping mutation in the ε‐sarcoglycan gene

A. Misbahuddin, M. Placzek, T. Warner, 2007, Movement disorders : official journal of the Movement Disorder Society.

Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts.

J. Muddle, J. Taanman, A. Muntau, 2003, Human molecular genetics.

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

A. Pagnamenta, M. Bitner-Glindzicz, S. Rahman, 2006, Molecular genetics and metabolism.

Tissue distribution of cytochrome c oxidase isoforms in mammals. Characterization with monoclonal and polyclonal antibodies.

R. Capaldi, J. Taanman, M. Marusich, 1993, Biochimica et biophysica acta.

Ambroxol reverses tau and α-synuclein accumulation in a cholinergic N370S GBA1 mutation model

J. Taanman, M. Gegg, A. Schapira, 2022, Human molecular genetics.

Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency.

F. Gottrand, J. Taanman, C. Jardel, 2005, Journal of hepatology.

Odour‐conditioned anemotaxis of apterous aphids (Cryptomyzus korschelti) in response to host plants

J. Taanman, J. Visser, J. Taanman, 1987 .

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.

A. Pagnamenta, V. Mootha, M. Bitner-Glindzicz, 2015, Human molecular genetics.

Mitochondria as oncotarget: a comparison between the tetracycline analogs doxycycline and COL-3

A. Kroon, J. Taanman, M. Protasoni, 2018, Oncotarget.

Exploring metabolism in scleroderma reveals opportunities for pharmacological intervention for therapy in fibrosis

D. Abraham, C. Denton, J. L. Lima-Filho, 2022, Frontiers in Immunology.

Assembly of cytochrome-c oxidase in cultured human cells.

L. Nijtmans, J. Taanman, D. Speijer, 1998, European journal of biochemistry.

Analysis of COX2 mutants reveals cytochrome oxidase subassemblies in yeast.

J. Taanman, B. Meunier, Ingrid Bourges, 2005, The Biochemical journal.

Mutations of cytochrome c oxidase subunits 1 and 3 in Saccharomyces cerevisiae: assembly defect and compensation.

J. Taanman, B. Meunier, 2002, Biochimica et biophysica acta.

Cytochrome-c Oxidase (COX)

J. Taanman, 2002 .

Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency.

A. Munnich, P. Rustin, A. Rötig, 1999, Biochimica et biophysica acta.

Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome-c oxidase subunits in chronic progressive external ophthalmoplegia.

R. Capaldi, J. Taanman, M. Marusich, 1996, Biochimica et biophysica acta.

Diagnostic Value of Succinate Ubiquinone Reductase Activity in the Identification of Patients with Mitochondrial DNA Depletion

S. Rahman, S. Heales, J. Leonard, 2002, Journal of Inherited Metabolic Disease.

Cytochrome c Oxidase subunit I microdeletion in a patient with motor neuron disease

Massimo Zeviani, S. Salani, N. Bresolin, 1998, Annals of neurology.

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

Robert W. Taylor, A. Pagnamenta, M. Bitner-Glindzicz, 2006, Human reproduction.

Subunit composition of respiratory chain complex 1 and its responses to oxygen in mitochondria from human donor livers

N. Heaton, J. Taanman, J. Taanman, 2017, BMC Research Notes.

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly

M. Sadowski, J. Holton, S. Rahman, 2011 .

Immunological Phenotyping of Fibroblast Cultures from Patients with a Mitochondrial Respiratory Chain Deficit

A. Schapira, J. Leonard, J. Taanman, 2001, Laboratory Investigation.

Comment on “Aneurysmal Lesions of Patients with Abdominal Aortic Aneurysm Contain Clonally Expanded T Cells”

A. Kroon, J. Taanman, 2014, The Journal of Immunology.

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.

A. Pagnamenta, V. Mootha, M. Bitner-Glindzicz, 2010, Human molecular genetics.

Kearns–Sayre syndrome caused by defective R1/p53R2 assembly

M. Sadowski, J. Holton, S. Rahman, 2011, Journal of Medical Genetics.

Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures.

J. Cooper, A. Schapira, J. Taanman, 1999, The American journal of pathology.

Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms.

J. Cooper, A. Schapira, M. Hanna, 2000, Brain : a journal of neurology.

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

S. Ferdinandusse, H. Waterham, S. Rahman, 2013, Orphanet Journal of Rare Diseases.

Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis.

D. Pongratz, J. Taanman, J. Müller‐Höcker, 2002, Human pathology.

Status epilepticus in children with Alpers’ disease caused by POLG1 mutations: EEG and MRI features

I. Harting, T. Bast, S. Rahman, 2009, Epilepsia.

Liver failure associated with mitochondrial DNA depletion.

S. Love, J. Cooper, A. Schapira, 1998, Journal of hepatology.

Assessment of the significance of mitochondrial DNA damage by chemotherapeutic agents.

J. Cooper, A. Schapira, D. Hochhauser, 2005, International journal of oncology.

Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy.

A. Schapira, J. Cooper, J. Taanman, 2010, Human molecular genetics.

Silencing of PINK1 Expression Affects Mitochondrial DNA and Oxidative Phosphorylation in DOPAMINERGIC Cells

J. Cooper, J. Taanman, M. Gegg, 2009, PloS one.

The human mitochondrial genome: Mechanisms of expression and maintenance

J. Taanman, S. Williams, 2005 .

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission

T. Jacques, M. Duchen, V. Plagnol, 2015, Brain : a journal of neurology.

Cytochrome c Oxidase Subassemblies in Fibroblast Cultures from Patients Carrying Mutations in COX10, SCO1, or SURF1*

P. Rustin, J. Taanman, I. Valnot, 2004, Journal of Biological Chemistry.

Mitochondrial DNA Mutations and Nuclear Mitochondrial Interactions in Human Disease

A. Schapira, J. Taanman, Hannah R Cock, 1999 .

Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.

D. Bozon, J. Taanman, B. Mousson de Camaret, 2007, The Biochemical journal.

Molecular mechanisms in mitochondrial DNA depletion syndrome.

J. Cooper, A. Schapira, P. Clayton, 1997, Human molecular genetics.

TRNT1 deficiency: clinical, biochemical and molecular genetic features

M. Minczuk, V. Plagnol, J. Saldanha, 2016, Orphanet Journal of Rare Diseases.

Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion

A. Pagnamenta, M. Bitner-Glindzicz, S. Rahman, 2009, Human mutation.

Expression of mtDNA and nDNA encoded respiratory chain proteins in chemically and genetically-derived Rho0 human fibroblasts: a comparison of subunit proteins in normal fibroblasts treated with ethidium bromide and fibroblasts from a patient with mtDNA depletion syndrome.

J. L. Smith, R. Capaldi, B. Robinson, 1997, Biochimica et biophysica acta.

A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA

H. Mandel, J. Taanman, N. Cohen, 2002, Annals of neurology.

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

A. Munnich, P. Rustin, A. Rötig, 2001, Nature Genetics.

Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

C. Davie, M. Daras, J. Muddle, 2009, Neuromuscular Disorders.

Mammalian cytochrome-c oxidase: characterization of enzyme and immunological detection of subunits in tissue extracts and whole cells.

R. Capaldi, J. Taanman, M. Marusich, 1995, Methods in enzymology.

Human Cytochrome c Oxidase: Structure, Function, and Deficiency

J. Taanman, 1997, Journal of bioenergetics and biomembranes.

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

M. Hurles, F. Muntoni, J. Stalker, 2013, Cell reports.

Assignment of the gene coding for human cytochrome c oxidase subunit VIb to chromosome 19, band q13.1, by fluorescence in situ hybridisation

J. Taanman, C. Buys, C. Schrage, 1991, Human Genetics.

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.

A. Munnich, P. Rustin, A. Rötig, 2000, Human molecular genetics.

Mutations in SURF1 are not specifically associated with Leigh syndrome

E. Shoubridge, A. Munnich, P. Rustin, 2001, Journal of medical genetics.

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.

V. Tiranti, M. Zeviani, E. Lamantea, 2000, Human Molecular Genetics.

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.

I. Nelson, J. Cooper, A. Schapira, 1999, American journal of human genetics.

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

J. Cooper, A. Misbahuddin, M. Placzek, 2005, Movement disorders : official journal of the Movement Disorder Society.

Subunit VIa of yeast cytochrome c oxidase is not necessary for assembly of the enzyme complex but modulates the enzyme activity. Isolation and characterization of the nuclear-coded gene.

R. Capaldi, J. Taanman, 1993, The Journal of biological chemistry.

Selective striatal mtDNA depletion in end-stage Huntington's disease R6/2 mice

M. Orth, J. Taanman, T. Hering, 2015, Experimental Neurology.

Mitochondrial DNA: Structure, Genetics, Replication and Defects

A. Kroon, J. Taanman, 2019, Mitochondria in Obesity and Type 2 Diabetes.

Somatic copy number gains of &agr;-synuclein (SNCA) in Parkinson’s disease and multiple system atrophy brains

A. Schapira, J. Holton, H. Houlden, 2018, Brain : a journal of neurology.

Clonal Expansion of T Cells in Abdominal Aortic Aneurysm: A Role for Doxycycline as Drug of Choice?

A. Kroon, J. Taanman, 2015, International journal of molecular sciences.

Pathogenic LRRK 2 mutations do not alter gene expression in cell model systems or human brain tissue

Michael J. Devine, M. Cookson, J. Hardy, 2017 .

Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue

Michael J. Devine, M. Cookson, J. Hardy, 2011, PloS one.

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

Francesco Muntoni, Jim Stalker, Rahul Phadke, 2013, JAMA neurology.

Structure and function of the mitochondrial oxidative phosphorylation system

J. Taanman, S. Williams, 2002 .

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

G. Plant, M. Zeviani, K. Thangaraj, 2017, Neurology: Genetics.

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation

A. Schapira, H. Houlden, Selina Vattathil, 2017, bioRxiv.

Mitochondria as target to inhibit proliferation and induce apoptosis of cancer cells: the effects of doxycycline and gemcitabine

A. Kroon, J. Taanman, M. Elpidorou, 2020, Scientific Reports.

Lowering the apoptotic threshold in colorectal cancer cells by targeting mitochondria

M. Winslet, J. Sagar, J. Taanman, 2010, Cancer Cell International.

Does Doxycycline work in synergy with cisplatin and oxaliplatin in colorectal cancer?

A. Seifalian, M. Winslet, J. Sagar, 2009, World journal of surgical oncology.

Decreased Brain Protein Levels of Cytochrome Oxidase Subunits in Alzheimer's Disease and in Hereditary Spinocerebella Ataxia Disorders

S. Kish, M. Pandolfo, M. Guttman, 1999, Journal of neurochemistry.

Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases

Denis Pierron, C. Rocher, T. Letellier, 2008, Journal of bioenergetics and biomembranes.

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease

B. Harding, T. Jacques, J. Holton, 2016, PloS one.

Sirtuin 5 depletion impairs mitochondrial function in human proximal tubular epithelial cells

R. Unwin, J. Norman, J. Taanman, 2021, Scientific Reports.

A Human Neural Crest Stem Cell-Derived Dopaminergic Neuronal Model Recapitulates Biochemical Abnormalities in GBA1 Mutation Carriers

A. Schapira, J. Taanman, K. Chau, 2017, Stem cell reports.

Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus

Patrick A. Lewis, Henry Houlden, Nicola J. Drummond, 2011, Nature communications.

Measurement of kinetic parameters of human platelet DNA polymerase gamma.

T. Letellier, M. Heiske, J. Taanman, 2010, Methods.

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

J. Cross, T. Jacques, S. Rahman, 2017, Genetics in Medicine.

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

T. Jacques, S. Rahman, J. Taanman, 2017, Genetics in Medicine.

Regulation of cytochrome c oxidase by interaction of ATP at two binding sites, one on subunit VIa.

R. Capaldi, J. Taanman, P. Turina, 1994, Biochemistry.

Mitochondrial cristae remodelling is associated with disrupted OPA1 oligomerisation in the Huntington's disease R6/2 fragment model

M. Orth, J. Taanman, Kerstin Kojer, 2017, Experimental Neurology.

Loss of PINK1 or Parkin Function Results in a Progressive Loss of Mitochondrial Function

J. Taanman, M. Protasoni, 2017 .

NDUFA4 (Renamed COXFA4) Is a Cytochrome-c Oxidase Subunit

J. Taanman, R. Pitceathly, 2018, Trends in Endocrinology & Metabolism.

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

M. Hurles, F. Muntoni, J. Stalker, 2013, Cell Reports.

Subunit composition of respiratory chain complex 1 and its responses to oxygen in mitochondria from human donor livers

N. Heaton, J. Taanman, S. Khorsandi, 2017, BMC Research Notes.

Intracellular oxygenation and cytochrome oxidase C activity in ischemic preconditioning of steatotic rabbit liver.

A. Seifalian, B. Davidson, J. Taanman, 2010, American journal of surgery.

Huntingtin Aggregates and Mitochondrial Pathology in Skeletal Muscle but not Heart of Late-Stage R6/2 Mice.

M. Orth, Frank Herrmann, J. Taanman, 2019, Journal of Huntington's disease.

Mitochondria as target to inhibit proliferation and induce apoptosis of cancer cells: the effects of doxycycline and gemcitabine

A. Kroon, J. Taanman, M. Elpidorou, 2020, Scientific Reports.

SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects.

D. Turnbull, M. Johnson, R. Lightowlers, 1998, The Journal of clinical investigation.

Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease

J. Cooper, J. Taanman, A. Schapira, 1998, Annals of neurology.

Biochemical abnormalities and excitotoxicity in Huntington's disease brain

S. Tabrizi, J. Cooper, J. Taanman, 1999, Annals of neurology.

Prostacyclin mimetics inhibit DRP1-mediated pro-proliferative mitochondrial fragmentation in pulmonary arterial hypertension.

C. Denton, J. Taanman, L. Clapp, 2023, Vascular pharmacology.

A novel mutation and novel features in Nijmegen breakage syndrome

A. Green, E. Shoubridge, A. Munnich, 2001, Journal of medical genetics.

Identification of three human pseudogenes for subunit VIb of cytochrome c oxidase: a molecular record of gene evolution.

J. Taanman, M. Hartog, J. Bijl, 1991, Gene.

Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology

R. King, J. Taanman, M. Gegg, 2009, Experimental Neurology.

Remodelling of the Mitochondrial Bioenergetic Pathways in Human Cultured Fibroblasts with Carbohydrates

J. Taanman, M. Protasoni, 2023, Biology.

Investigation of intercellular differences of mitochondrial protein expression in amyotrophic lateral sclerosis

R. Orrell, J. Taanman, L. Bradley, 2003 .

Huntingtin Aggregates and Mitochondrial Pathology in Skeletal Muscle but not Heart of Late-Stage R6/2 Mice.

M. Orth, Frank Herrmann, J. Taanman, 2019, Journal of Huntington's disease.

The diagnosis of inherited metabolic diseases by microarray gene expression profiling

D. Perrett, J. Taanman, B. Young, 2010, Orphanet journal of rare diseases.

Somatic copy number gains of &agr;-synuclein (SNCA) in Parkinson’s disease and multiple system atrophy brains

A. Schapira, J. Holton, H. Houlden, 2018, Brain : a journal of neurology.

Regulation of the expression of mitochondrial proteins: relationship between mtDNA copy number and cytochrome-c oxidase activity in human cells and tissues.

M. Holtrop, J. Taanman, H. Dekker, 1993, Biochimica et biophysica acta.

Impact of treprostinil on dynamin-related protein 1 (DRP1) and mitochondrial fragmentation in pulmonary arterial hypertension (PAH).

D. Abraham, J. Taanman, L. Clapp, 2018, Pulmonary hypertension.

Exploring the impact of the PNPLA3 I148M variant on primary human hepatic stellate cells using 3D extracellular matrix models.

J. Taanman, G. Mazza, K. Rombouts, 2024, Journal of hepatology.