(Q44195721)

30 November 2017

title

Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy (English)

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30 November 2017

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30 November 2017

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30 November 2017

John Guy

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30 November 2017

Xiaoping Qi

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30 November 2017

Francesco Pallotti

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30 November 2017

Eric A Schon

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30 November 2017

Giovanni Manfredi

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30 November 2017

Valerio Carelli

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30 November 2017

William W Hauswirth

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30 November 2017

publication date

1 November 2002

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30 November 2017

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30 November 2017

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30 November 2017

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30 November 2017

page(s)

534-542

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

30 November 2017

cites work

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Protein sorting to mitochondria: evolutionary conservations of folding and assembly

21 January 2018

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Mitochondrial genetics and disease

21 January 2018

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Mitochondrial diseases in man and mouse

21 January 2018

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MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

21 January 2018

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Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)

21 January 2018

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Leber's hereditary optic neuropathy and complex I deficiency in muscle

21 January 2018

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Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation

21 January 2018

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Mitochondrial disease in mouse results in increased oxidative stress

21 January 2018

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Reporter expression persists 1 year after adeno-associated virus-mediated gene transfer to the optic nerve

21 January 2018

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Adeno-associated viral-mediated catalase expression suppresses optic neuritis in experimental allergic encephalomyelitis

21 January 2018

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Recombinant adeno-associated virus vector-based gene transfer for defects in oxidative metabolism.

21 January 2018

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Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus

21 January 2018

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Production and purification of recombinant adeno-associated virus

21 January 2018

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Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines

21 January 2018

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Assay of mitochondrial ATP synthesis in animal cells

21 January 2018

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Molecular cloning and sequence of two cDNAs for human subunit c of H(+)-ATP synthase in mitochondria

21 January 2018

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Lack of complex I activity in human cells carrying a mutation in MtDNA-encoded ND4 subunit is corrected by the Saccharomyces cerevisiae NADH-quinone oxidoreductase (NDI1) gene

21 January 2018

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Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy

21 January 2018

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Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy.

21 January 2018

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Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells

21 January 2018

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Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies

21 January 2018

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Leber's hereditary optic neuropathy. New genetic considerations

21 January 2018

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A roundabout route to gene therapy

21 January 2018

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In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by31P magnetic resonance spectroscopy

21 January 2018

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The epidemiology of pathogenic mitochondrial DNA mutations

21 January 2018

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Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy

21 January 2018

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Resolution of the Membrane Domain of Bovine Complex I into Subcomplexes: Implications for the Structural Organization of the Enzyme

21 January 2018

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Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

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The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy

21 January 2018

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Allotopic expression of mitochondrial ATP synthase genes in nucleus of Saccharomyces cerevisiae

21 January 2018

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In vivo mitochondrial import. A comparison of leader sequence charge and structural relationships with the in vitro model resulting in evidence for co-translational import

21 January 2018

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Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene

21 January 2018

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Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases

21 January 2018

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Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes

21 January 2018

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Mito-mice: animal models for mitochondrial DNA-based diseases

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.10354

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30 November 2017

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