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The role of mitochondrial DNA mutations and free radicals in disease and ageing

Journal of internal medicine, 2013-06, Vol.273 (6), p.529-543

2013

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Mitochondrial dysfunction as a cause of ageing

Journal of internal medicine, 2008-02, Vol.263 (2), p.167-178

2008

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Mitochondria in human disease

Journal of internal medicine, 2020-06, Vol.287 (6), p.589-591

2020

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Neuronal metabolic rewiring promotes resilience to neurodegeneration caused by mitochondrial dysfunction

Science advances, 2020-08, Vol.6 (35), p.eaba8271-eaba8271

2020

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MitoPark mice mirror the slow progression of key symptoms and L‐DOPA response in Parkinson's disease

Genes, brain and behavior, 2010-03, Vol.9 (2), p.173-181

2010

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TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication

Human molecular genetics, 2013-05, Vol.22 (10), p.1983-1993

2013

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Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse

Science advances, 2019-04, Vol.5 (4), p.eaav9824-eaav9824

2019

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Maintenance and Expression of Mammalian Mitochondrial DNA

Annual review of biochemistry, 2016-06, Vol.85 (1), p.133-160

2016

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Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice

Nature genetics, 1998-03, Vol.18 (3), p.231-236

1998

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Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression

Nature genetics, 1999-01, Vol.21 (1), p.133-137

1999

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Cross-strand binding of TFAM to a single mtDNA molecule forms the mitochondrial nucleoid

Proceedings of the National Academy of Sciences - PNAS, 2015-09, Vol.112 (36), p.11288-11293

2015

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Loss of LRPPRC causes ATP synthase deficiency

Human molecular genetics, 2014-05, Vol.23 (10), p.2580-2592

2014

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Small-molecule inhibitors of human mitochondrial DNA transcription

Nature (London), 2020-12, Vol.588 (7839), p.712-716

2020

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Guidelines for measuring reactive oxygen species and oxidative damage in cells and in vivo

Nature metabolism, 2022-06, Vol.4 (6), p.651-662

2022

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Impaired insulin secretion and β-cell loss in tissue-specific knockout mice with mitochondrial diabetes

Nature genetics, 2000-11, Vol.26 (3), p.336-340

2000

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Introduction: Euromit VII – summarizing 50 years of research on mitochondrial disease

Journal of internal medicine, 2009-02, Vol.265 (2), p.170-173

Larsson, N.‐G.

2009

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Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA

Molecular cell, 2018-01, Vol.69 (1), p.9-23.e6

2018

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Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing

PLoS genetics, 2020-12, Vol.16 (12), p.e1009242

2020

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Nurr1 Is Required for Maintenance of Maturing and Adult Midbrain Dopamine Neurons

The Journal of neuroscience, 2009-12, Vol.29 (50), p.15923-15932

2009

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Mammalian transcription factor A is a core component of the mitochondrial transcription machinery

Proceedings of the National Academy of Sciences - PNAS, 2012-10, Vol.109 (41), p.16510-16515

2012

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No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline

Nucleic acids research, 2014-01, Vol.42 (2), p.1111-1116

2014

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Molecular Genetic Aspects of Human Mitochondrial Disorders

Annual review of genetics, 1995-01, Vol.29 (1), p.151-178

1995

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Premature ageing in mice expressing defective mitochondrial DNA polymerase

Nature, 2004-05, Vol.429 (6990), p.417-423

2004

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Late-Onset Corticohippocampal Neurodepletion Attributable to Catastrophic Failure of Oxidative Phosphorylation in MILON Mice

The Journal of neuroscience, 2001-10, Vol.21 (20), p.8082-8090

2001

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Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria

Nature communications, 2018-03, Vol.9 (1), p.1202-13, Article 1202

2018

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The role of mitochondrial DNA mutations and free radicals in disease and ageing

Mitochondrial dysfunction as a cause of ageing

Mitochondria in human disease

Neuronal metabolic rewiring promotes resilience to neurodegeneration caused by mitochondrial dysfunction

MitoPark mice mirror the slow progression of key symptoms and L‐DOPA response in Parkinson's disease

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication

Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse

Maintenance and Expression of Mammalian Mitochondrial DNA

Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice

Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression

Cross-strand binding of TFAM to a single mtDNA molecule forms the mitochondrial nucleoid

Loss of LRPPRC causes ATP synthase deficiency

Small-molecule inhibitors of human mitochondrial DNA transcription

Guidelines for measuring reactive oxygen species and oxidative damage in cells and in vivo

Impaired insulin secretion and β-cell loss in tissue-specific knockout mice with mitochondrial diabetes

Introduction: Euromit VII – summarizing 50 years of research on mitochondrial disease

Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA

Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing

Nurr1 Is Required for Maintenance of Maturing and Adult Midbrain Dopamine Neurons

Mammalian transcription factor A is a core component of the mitochondrial transcription machinery

No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline

Molecular Genetic Aspects of Human Mitochondrial Disorders

Premature ageing in mice expressing defective mitochondrial DNA polymerase

Late-Onset Corticohippocampal Neurodepletion Attributable to Catastrophic Failure of Oxidative Phosphorylation in MILON Mice

Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria

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