(Q40067062)

17 September 2017

title

Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption (English)

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17 September 2017

1

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12

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17 September 2017

Natalya Akinshina

3

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Nicholas W. Wood

object named as

Nicholas W Wood

10

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Mary G. Sweeney

8

object named as

Mary G Sweeney

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17 September 2017

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Michael G Hanna

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17 September 2017

Danae Liolitsa

2

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17 September 2017

Michelangelo Campanella

4

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17 September 2017

Sanjay Sisodiya

5

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17 September 2017

Ian Hargreaves

6

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Niranjanan Nirmalananthan

7

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17 September 2017

Patrick M Abou-Sleiman

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17 September 2017

language of work or name

English

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publication date

16 October 2007

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Journal of Biological Chemistry

17 September 2017

published in

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17 September 2017

volume

282

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17 September 2017

issue

51

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17 September 2017

page(s)

36845-36852

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Oxidative phosphorylation at the fin de siècle

17 September 2017

cites work

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https://api.crossref.org/works/10.1074%2FJBC.M704158200

Mitochondrial diseases in man and mouse

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Mitochondrial DNA and disease

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Mitochondrial DNA mutations in human disease.

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Mouse models for mitochondrial disease

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M704158200

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M704158200

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M704158200

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

21 January 2018

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Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M704158200

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

21 January 2018

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Abnormal calcium homeostasis and mitochondrial polarization in a human encephalomyopathy

21 January 2018

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

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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The relationship between mitochondrial state, ATP hydrolysis, [Mg2+]i and [Ca2+]i studied in isolated rat cardiomyocytes.

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M704158200

Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M704158200

Quantitation and origin of the mitochondrial membrane potential in human cells lacking mitochondrial DNA.

21 January 2018

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Studies on energy-linked reactions. Genetic analysis of oligomycin-resistant mutants of Saccharomyces cerevisiae.

21 January 2018

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Leber hereditary optic neuropathy

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M704158200

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M704158200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M704158200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M704158200

Energy transduction in intact synaptosomes. Influence of plasma-membrane depolarization on the respiration and membrane potential of internal mitochondria determined in situ

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M704158200

Mitochondria as ATP consumers: cellular treason in anoxia.

21 January 2018

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Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

21 January 2018

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New insights into the bioenergetics of mitochondrial disorders using intracellular ATP reporters

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M704158200

Contribution of coupling between human myometrial beta2-adrenoreceptor and the BK(Ca) channel to uterine quiescence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M704158200

21 January 2018

Identifiers

DOI

10.1074/JBC.M704158200

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17 September 2017

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