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. (Q42133322)

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scientific article published on September 1999

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English	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.	scientific article published on September 1999

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scholarly article

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12 December 2019

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 (English)

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12 December 2019

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Hana Houšťková

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Floryk D

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Klement P

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Stratilová L

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Hermanská J

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Kalous M

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Houstek J

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1 September 1999

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12 December 2019

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8

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Biochemical Journal

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342 Pt 3

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537-544

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12 December 2019

Protein measurement with the Folin phenol reagent

1 reference

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29 May 2018

The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics

1 reference

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29 May 2018

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

1 reference

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29 May 2018

Mitochondrial DNA mutations and pathogenesis

1 reference

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29 May 2018

Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families.

1 reference

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In vivo control of respiration by cytochrome c oxidase in wild-type and mitochondrial DNA mutation-carrying human cells

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

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29 May 2018

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome

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Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants

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Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers

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A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

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In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.

1 reference

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Characterization of cytochrome-c oxidase mutants in human fibroblasts

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Identification of point mutations by mispairing PCR as exemplified in MERRF disease

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Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

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

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Identifiers

10.1042/0264-6021:3420537

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Europe PubMed Central

17 October 2017

10.1042/BJ3420537

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10477264%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

1 reference

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12 December 2019

1 reference

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12 December 2019

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