(Q28203066)

English

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

scientific article (publication date: November 2001)

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scholarly article

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Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy (English)

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mitochondrial DNA

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1 reference

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object named as

A Saada

1

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author name string

A Shaag

2

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H Mandel

3

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Y Nevo

4

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S Eriksson

5

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O Elpeleg

6

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language of work or name

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publication date

November 2001

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Nature Genetics

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29

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342-4

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3

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Characterization of a dCTP transport activity reconstituted from human mitochondria.

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The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals

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Cloning and expression of human mitochondrial deoxyguanosine kinase cDNA

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Cloning and expression of human deoxyguanosine kinase cDNA

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Cloning of the cDNA and chromosome localization of the gene for human thymidine kinase 2

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Human thymidine kinase 2: molecular cloning and characterisation of the enzyme activity with antiviral and cytostatic nucleoside substrates

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Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis.

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Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures.

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Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

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Clinical manifestations of mitochondrial DNA depletion.

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Molecular mechanisms in mitochondrial DNA depletion syndrome

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Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study.

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Familial mitochondrial DNA depletion in liver: haplotype analysis of candidate genes

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What regulates mitochondrial DNA copy number in animal cells?

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

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Mitochondrial toxicity of antiviral drugs

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The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

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A deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic disease

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An improved procedure for preparation of inner membrane vesicles from rat liver mitochondria by treatment with digitonin

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Differential investigation of the capacity of succinate oxidation in human skeletal muscle

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An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

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Biochemical and molecular investigations in respiratory chain deficiencies

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Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

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