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List of works by Jan-Willem Taanman

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

scientific article published on 15 February 2017

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy

scientific article (publication date: June 2002)

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

scientific article (publication date: August 2002)

Analysis of COX2 mutants reveals cytochrome oxidase subassemblies in yeast

scientific article published on September 2005

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

scientific article

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

scientific article published on 8 December 2004

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

scientific article

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

scientific article published in August 2005

Clonal expansion of T cells in abdominal aortic aneurysm: a role for doxycycline as drug of choice?

scientific article published on 18 May 2015

Creation of an open-access, mutation-defined fibroblast resource for neurological disease research

scientific article

Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1

scientific article

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

scientific article published in February 2002

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

scientific article

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

scientific article published on 28 May 2015

Glucosylceramidase degradation in fibroblasts carrying bi-allelic Parkin mutations

scientific article published on 10 June 2013

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

scientific article

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

scientific article published on 18 April 2009

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

scientific article

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

scientific article published on 21 April 2010

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly

scientific article published on 4 March 2011

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

scientific article

Lowering the apoptotic threshold in colorectal cancer cells by targeting mitochondria

scientific article published on 6 September 2010

Measurement of kinetic parameters of human platelet DNA polymerase gamma

scientific article published on 16 March 2010

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

article published in 2018

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

scientific article published in August 2003

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

scientific article published on 23 November 2016

Mitochondrial single-stranded DNA binding protein is required for maintenance of mitochondrial DNA and 7S DNA but is not required for mitochondrial nucleoid organisation

scientific article published on 28 April 2010

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

scientific article

Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy

scientific article

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

scientific article published in April 2002

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

scientific article

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

scientific article published on 23 August 2011

Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue

scientific article

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

scientific article published on 23 June 2006

Relapsing neuropathy in an 18-year-old woman

scientific article published on February 2007

Replication of mitochondrial DNA occurs throughout the mitochondria of cultured human cells

scientific article published in September 2003

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

scientific article published on 12 February 2015

Silencing of PINK1 expression affects mitochondrial DNA and oxidative phosphorylation in dopaminergic cells

scientific article

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

scientific article published on 19 November 2008

The diagnosis of inherited metabolic diseases by microarray gene expression profiling

scientific article

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