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

Experimental neurology, 2009-09, Vol.219 (1), p.266-273

2009

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Mitochondria in the etiology and pathogenesis of parkinson's disease

Annals of neurology, 1998-09, Vol.44 (S1), p.S89-S98

1998

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

BMC research notes, 2017-11, Vol.10 (1), p.547-547, Article 547

2017

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

Annals of neurology, 1998-08, Vol.44 (2), p.177-186

1998

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

Human molecular genetics, 2000-05, Vol.9 (8), p.1245-1249

2000

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

Nature genetics, 2001-09, Vol.29 (1), p.57-60

2001

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The mitochondrial genome: structure, transcription, translation and replication

BBA - Bioenergetics, 1999-02, Vol.1410 (2), p.103-123

Taanman, Jan-Willem

1999

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Remodelling of bioenergetic pathways in human fibroblasts with carbohydrates

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S19-S19

2017

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Expression of mutant α-synuclein causes increased susceptibility to dopamine toxicity

Human molecular genetics, 2000-11, Vol.9 (18), p.2683-2689

2000

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

Human molecular genetics, 2003-08, Vol.12 (15), p.1839-1845

2003

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

Annals of neurology, 1998-01, Vol.43 (1), p.110-116

1998

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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, 2000-11, Vol.9 (18), p.2733-2742

2000

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

Journal of medical genetics, 2011-10, Vol.48 (10), p.691-697

2011

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Influence of zinc and zinc chelator on HT-29 colorectal cell line

Biometals, 2011-02, Vol.24 (1), p.143-151

2011

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Molecular Mechanisms in Mitochondrial DNA Depletion Syndrome

Human molecular genetics, 1997-06, Vol.6 (6), p.935-942

1997

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Decreased brain protein levels of cytochrome oxidase subunits in Alzheimer's disease and in hereditary spinocerebellar ataxia disorders : A nonspecific change?

Journal of neurochemistry, 1999-02, Vol.72 (2), p.700-707

1999

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A Missense Mutation of Cytochrome Oxidase Subunit II Causes Defective Assembly and Myopathy

American journal of human genetics, 1999-10, Vol.65 (4), p.1030-1039

1999

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POG01 Anti-thymidine phosphorylase antibodies in the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy

Journal of neurology, neurosurgery and psychiatry, 2010-11, Vol.81 (11), p.e48-e48

2010

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Assembly of cytochrome c oxidase: what can we learn from patients with cytochrome c oxidase deficiency?

Biochemical Society transactions, 2001-08, Vol.29 (Pt 4), p.446

2001

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

The Journal of biological chemistry, 2004-02, Vol.279 (9), p.7462-7469

2004

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Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)

Biochimica et biophysica acta, 2009-12, Vol.1792 (12), p.1109-1112

2009

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

Journal of inherited metabolic disease, 2002-02, Vol.25 (1), p.7-16

2002

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Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms

Brain (London, England : 1878), 2000-03, Vol.123 (3), p.591-600

2000

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Liver failure associated with mitochondrial DNA depletion

Journal of hepatology, 1998-04, Vol.28 (4), p.556-563

1998

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Purification of yeast cytochrome c oxidase with a subunit composition resembling the mammalian enzyme

The Journal of biological chemistry, 1992-11, Vol.267 (31), p.22481-22485

1992

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

Mitochondria in the etiology and pathogenesis of parkinson's disease

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

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

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

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

The mitochondrial genome: structure, transcription, translation and replication

Remodelling of bioenergetic pathways in human fibroblasts with carbohydrates

Expression of mutant α-synuclein causes increased susceptibility to dopamine toxicity

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

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

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

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

Influence of zinc and zinc chelator on HT-29 colorectal cell line

Molecular Mechanisms in Mitochondrial DNA Depletion Syndrome

Decreased brain protein levels of cytochrome oxidase subunits in Alzheimer's disease and in hereditary spinocerebellar ataxia disorders : A nonspecific change?

A Missense Mutation of Cytochrome Oxidase Subunit II Causes Defective Assembly and Myopathy

POG01 Anti-thymidine phosphorylase antibodies in the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy

Assembly of cytochrome c oxidase: what can we learn from patients with cytochrome c oxidase deficiency?

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

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)

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

Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms

Liver failure associated with mitochondrial DNA depletion

Purification of yeast cytochrome c oxidase with a subunit composition resembling the mammalian enzyme

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