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  1. Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration.

    Mutations of thymidine kinase 2 (TK2), an essential component of the mitochondrial nucleotide salvage pathway, can give rise to mitochondrial DNA (mtDNA) depletion syndromes (MDS). These clinically heterogeneous disorders are characterized by severe

  2. Retrospective natural history of thymidine kinase 2 deficiency

    BACKGROUND: Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine. Autosomal recessive TK2 mutations cause a spectrum of disease from infantile

  3. POLG mutations cause decreased mitochondrial DNA repopulation rates following induced...

    Disorders of mitochondrial DNA (mtDNA) maintenance have emerged as an important cause of human genetic disease, but demonstrating the functional consequences of de novo mutations remains a major challenge. We studied the rate of depletion and

  4. Different transmission rates of herpesvirus thymidine kinase reporter transgenes from...

    Previously we demonstrated that lines of transgenic mice carrying the herpes simplex type 1 virus thymidine kinase (HSV1-tk) reporter gene are male-sterile. Ectopic transcription of the HSV1-tk reporter in the testis was initiated downstream of the

  5. Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the...

    These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance including C10orf2, SUCLG1, SUCLA2, TYMP, RRM2B, MPV17, DGUOK and TK2. The list should not be

  6. Clinical and molecular aspects of diseases of mitochondrial DNA instability

    Mitochondria within human cells contain vast numbers of mitochondrial DNA (mtDNA), which are small, circular, and double-stranded. The proper functions of mtDNA depend totally on specific proteins that are encoded by the nucleus and then imported

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