Measurement of ATP production in mitochondrial disorders (Q83120532)

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19 January 2020

title

Measurement of ATP production in mitochondrial disorders (English)

1 reference

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19 January 2020

author name string

R K Shepherd

1

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19 January 2020

N Checcarelli

2

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19 January 2020

A Naini

3

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19 January 2020

D C De Vivo

4

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19 January 2020

S DiMauro

5

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19 January 2020

C M Sue

6

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19 January 2020

publication date

1 February 2006

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Journal of Inherited Metabolic Disease

19 January 2020

published in

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19 January 2020

volume

29

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19 January 2020

issue

1

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19 January 2020

page(s)

86-91

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Bioenergetic consequences of accumulating the common 4977-bp mitochondrial DNA deletion

19 January 2020

cites work

1 reference

12 December 2020

Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation

1 reference

12 December 2020

Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio

1 reference

12 December 2020

A novel deficiency of mitochondrial ATPase of nuclear origin

1 reference

12 December 2020

Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNALeu(UUR) gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

1 reference

12 December 2020

Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA

1 reference

12 December 2020

Complex approach to prenatal diagnosis of cytochrome c oxidase deficiencies

1 reference

12 December 2020

The use of lymphocytes to screen for oxidative phosphorylation disorders

1 reference

12 December 2020

Assay of mitochondrial ATP synthesis in animal cells

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12 December 2020

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

1 reference

12 December 2020

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

1 reference

12 December 2020

Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations.

1 reference

12 December 2020

Decreased ATP synthesis is phenotypically expressed during increased energy demand in fibroblasts containing mitochondrial tRNA mutations

1 reference

12 December 2020

Detection of MELAS A3243G point mutation in muscle, blood and hair follicles

1 reference

12 December 2020

Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt.

1 reference

12 December 2020

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

1 reference

12 December 2020

Measurements of ATP in mammalian cells

1 reference

12 December 2020