4.7 Review

Mitochondrial DNA and disease

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Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions

J. Betts-Henderson et al.

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Maria Bitner-Glindzicz et al.

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A Methodological Approach to Tracing Cell Lineage in Human Epithelial Tissues

Tariq G. Fellous et al.

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Nature of mitochondrial DNA deletions in substantial nigra neurons

Amy K. Reeve et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

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Pathogenic mitochondrial DNA mutations are common in the general population

Hannah R. Elliott et al.

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Prevalence of mitochondrial DNA disease in adults

Andrew M. Schaefer et al.

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OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes

Patrizia Amati-Bonneau et al.

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Stuart A. C. Mcdonald et al.

GASTROENTEROLOGY (2008)

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A functionally dominant mitochondrial DNA mutation

Sabrina Sacconi et al.

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Parkin is recruited selectively to impaired mitochondria and promotes their autophagy

Derek Narendra et al.

JOURNAL OF CELL BIOLOGY (2008)

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What causes mitochondrial DNA deletions in human cells?

Kim J. Krishnan et al.

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ROS-generating mitochondrial DNA mutations can regulate tumor cell metastasis

Kaori Ishikawa et al.

SCIENCE (2008)

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Population prevalence of the MELAS A3243G mutation

Neil Manwaring et al.

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Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia

Matthew J. Longley et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2006)

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Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission

LC Greaves et al.

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Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production

A Trifunovic et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

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Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging

GC Kujoth et al.

SCIENCE (2005)

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Degenerate mitochondria

M van der Giezen et al.

EMBO REPORTS (2005)

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Mitochondrial DNA mutations in human disease

RW Taylor et al.

NATURE REVIEWS GENETICS (2005)

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Mitochondrial dysfunction plays a key role in progressive axonal loss in multiple sclerosis

HE Andrews et al.

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Risk of developing a mitochondrial DNA deletion disorder

PF Chinnery et al.

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Premature ageing in mice expressing defective mitochondrial DNA polymerase

A Trifunovic et al.

NATURE (2004)

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Mitochondria: Releasing power for life and unleashing the machineries of death

DD Newmeyer et al.

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Neuropathological features of mitochondrial disorders

K Tanji et al.

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Accelerated ageing changes in the choroid plexus of a case with multiple mitochondrial DNA deletions

DA Cottrell et al.

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Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age

DA Cottrell et al.

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The comeback of mitochondria to calcium signalling

T Pozzan et al.

CELL CALCIUM (2000)

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Role of adenine nucleotide translocator 1 in mtDNA maintenance

J Kaukonen et al.

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Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder

DA Cottrell et al.

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Facile detection of mitochondrial DNA mutations in tumors and bodily fluids

MS Fliss et al.

SCIENCE (2000)