Search for dissertations about: "Ophthalmoplegia"

Showing result 1 - 5 of 6 swedish dissertations containing the word Ophthalmoplegia.

  2. 1. Genetic study of autosomal dominant progressive external ophthalmoplegia and familial myasthenia gravis : linkage analysis, candidate gene cloning and mutation detection

    Author : Fang-Yuan Li; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Identification of genes responsible for familial human diseases is a major task of medical genetics. In this process, linkage analysis, candidate gene screening and mutation detection are the three major steps (Paper I-VI). READ MORE

  4. 2. Studies of enzymes in mitochondrial DNA precursor synthesis : regulatory mechanisms for human thymidine kinase 2 and deoxyguanosine kinase

    Author : Ren Sun; Sveriges lantbruksuniversitet; Sveriges lantbruksuniversitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES;

    Abstract : As important enzymes in mitochondrial nucleotide salvage pathway, thymidine kinase 2 (TK2) and deoxyguanosine kinase (dGK) are expressed constitutively in almost all cells. These two enzymes catalyze the initial rate-limiting phosphorylation of pyrimidine and purine deoxynucleosides, respectively, providing DNA precursors for mitochondrial DNA (mtDNA) replication. READ MORE

  5. 3. Crisis in Energy Metabolism - Mitochondrial Defects and a New Disease Entity

    Author : Gittan Kollberg; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Energy metabolism; Mitochondrial Disorders; mtDNA; multiple mtDNA deletions; Alpers-Huttenlocher syndrome; POLG1; GYS1; glycogen synthase; point mutation; Polymerase gamma;

    Abstract : Impairment of energy metabolism may be associated with severe implications for affected individuals since all fundamental cell functions are energy-dependent. Disorders of energy metabolism are often genetic and associated with defects in the oxidative phosphorylation in mitochondria. READ MORE

  6. 4. Functional and structural characterization of the human mitochondrial helicase

    Author : Jenny Korhonen; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Mitochondria; mtDNA; replication; replisome; TWINKLE; mtSSB; POL g ; adPEO.;

    Abstract : Mitochondria are the energy producing organelles of the eukaryotic cell. The human mitochondrial DNA (mtDNA) is a double stranded circular molecule of about 16 kb, usually present at 1000-10 000 copies per cell. The genome encodes 13 polypeptides involved in respiration, two ribosomal RNA s and a set of 22 transfer RNA s. READ MORE

  7. 5. Molecular insights into mitochondrial DNA replication

    Author : Javier Miralles Fusté; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Mitochondria are organelles found in eukaryotic cells. These organelles produce most of the adenosine triphosphate that cells use as a source of energy. Mitochondria contain their own genomic material, a circular DNA genome (mtDNA) that encodes subunits of the respiratory chain complexes and RNA components needed for mitochondrial translation. READ MORE