Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels (Q39910474)

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English	Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

15 September 2017

Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels (English)

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Europe PubMed Central

PubMed publication ID

15 September 2017

mitochondrial DNA

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8

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Europe PubMed Central

PubMed publication ID

15 September 2017

object named as

Michela Rugolo

9

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Valeria Petronilli

object named as

Valeria Petronilli

7

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Valerio Carelli

object named as

Valerio Carelli

6

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Andrea Martinuzzi

object named as

Andrea Martinuzzi

5

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author name string

Anna Maria Porcelli

1

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Europe PubMed Central

PubMed publication ID

15 September 2017

Alessia Angelin

2

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Europe PubMed Central

PubMed publication ID

15 September 2017

Anna Ghelli

3

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Europe PubMed Central

PubMed publication ID

15 September 2017

Elisa Mariani

4

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Europe PubMed Central

PubMed publication ID

15 September 2017

language of work or name

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publication date

1 December 2008

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Europe PubMed Central

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15 September 2017

Journal of Biological Chemistry

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Europe PubMed Central

PubMed publication ID

15 September 2017

284

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Europe PubMed Central

PubMed publication ID

15 September 2017

4

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Europe PubMed Central

PubMed publication ID

15 September 2017

2045-2052

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Europe PubMed Central

PubMed publication ID

15 September 2017

Keilin's Respiratory Chain Concept and Its Chemiosmotic Consequences

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https://api.crossref.org/works/10.1074%2FJBC.M807321200

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Energy converting NADH:quinone oxidoreductase (complex I).

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M807321200

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Mitochondrial complex I: structure, function and pathology

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M807321200

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Mitochondrial disorders in the nervous system

1 reference

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Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors.

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ROS-generating mitochondrial DNA mutations can regulate tumor cell metastasis

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Mitochondrial dysfunction as a cause of optic neuropathies

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21 January 2018

The pathophysiology of mitochondrial cell death

1 reference

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Cytochrome c release from mitochondria proceeds by a two-step process

1 reference

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Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage

1 reference

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The mitochondrial permeability transition from in vitro artifact to disease target

1 reference

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The mitochondrial permeability transition, release of cytochrome c and cell death. Correlation with the duration of pore openings in situ

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Opening of the mitochondrial permeability transition pore causes depletion of mitochondrial and cytosolic NAD+ and is a causative event in the death of myocytes in postischemic reperfusion of the heart.

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21 January 2018

A mitochondrial perspective on cell death

1 reference

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A distinct pathway remodels mitochondrial cristae and mobilizes cytochrome c during apoptosis

1 reference

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Mitochondria and cell death. Mechanistic aspects and methodological issues

1 reference

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Bcl-2 prevents mitochondrial permeability transition and cytochrome c release via maintenance of reduced pyridine nucleotides.

1 reference

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Bcl-2 inhibits the mitochondrial release of an apoptogenic protease

1 reference

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Subcellular and submitochondrial mode of action of Bcl-2-like oncoproteins

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An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy

1 reference

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21 January 2018

A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family

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Establishment of a highly differentiated thyroid cancer cell line of Hürthle cell origin

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Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III.

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21 January 2018

Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy

1 reference

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21 January 2018

Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium

1 reference

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21 January 2018

Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy

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https://api.crossref.org/works/10.1074%2FJBC.M807321200

21 January 2018

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

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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

1 reference

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21 January 2018

Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids

1 reference

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Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts

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Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels.

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Interactions of cyclophilin with the mitochondrial inner membrane and regulation of the permeability transition pore, and cyclosporin A-sensitive channel.

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21 January 2018

Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G.

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21 January 2018

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

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Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment.

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The mitochondrial effects of small organic ligands of BCL-2: sensitization of BCL-2-overexpressing cells to apoptosis by a pyrimidine-2,4,6-trione derivative

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M807321200

21 January 2018

BCL-2 improves oxidative phosphorylation and modulates adenine nucleotide translocation in mitochondria of cells harboring mutant mtDNA.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M807321200

21 January 2018

On the voltage dependence of the mitochondrial permeability transition pore. A critical appraisal.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M807321200

21 January 2018

Opening of the mitochondrial permeability transition pore induces reactive oxygen species production at the level of the respiratory chain complex I.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M807321200

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Abnormal calcium homeostasis and mitochondrial polarization in a human encephalomyopathy

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A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency

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

1 reference

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Optic neuropathy induced by reductions in mitochondrial superoxide dismutase

1 reference

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Cell response to oxidative stress induced apoptosis in patients with Leber's hereditary optic neuropathy.

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Abnormal Ca2+ dynamics in transgenic mice with neuron-specific mitochondrial DNA defects.

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Impaired mitochondrial Ca2+ homeostasis in respiratory chain-deficient cells but efficient compensation of energetic disadvantage by enhanced anaerobic glycolysis due to low ATP steady state levels.

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21 January 2018

Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?

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Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption

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Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency.

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Subcellular analysis of Ca2+ homeostasis in primary cultures of skeletal muscle myotubes

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Microdomains of intracellular Ca2+: molecular determinants and functional consequences.

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Regulation of mitochondrial ATP synthesis by calcium: evidence for a long-term metabolic priming

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From energy store to energy flux: a study in creatine kinase-deficient fast skeletal muscle

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Mitochondrial DNA and disease

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Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins

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Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

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Cardiac disease due to random mitochondrial DNA mutations is prevented by cyclosporin A.

1 reference

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mtDNA mutations confer cellular sensitivity to oxidant stress that is partially rescued by calcium depletion and cyclosporin A.

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Minocycline, a possible neuroprotective agent in Leber's hereditary optic neuropathy (LHON): studies of cybrid cells bearing 11,778 mutation

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Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome.

1 reference

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M807321200

21 January 2018

Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M807321200

21 January 2018

Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia

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https://api.crossref.org/works/10.1074%2FJBC.M807321200

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Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M807321200

21 January 2018

Identifiers

10.1074/JBC.M807321200

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

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