Search for dissertations about: "ISCU"

Found 5 swedish dissertations containing the word ISCU.

  2. 1. The regulation of incorrect splicing of ISCU in hereditary myopathy with lactic acidosis

    Author : Denise F. R. Rawcliffe; Monica Holmberg; Helena Edlund; Diana Baralle; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; HML; ISCU; Splicing; SRSF3; PTBP1; RBM39; MBNL1; medicinsk genetik; Medical Genetics;

    Abstract : Patients suffering from hereditary myopathy with lactic acidosis (HML) can be found in the northern Swedish counties of Ångermanland and Västerbotten. HML is a rare autosomal recessive disease where patients display a low tolerance to exercise at an early age. READ MORE

  4. 2. The use of monogenic disease to study basal and disease associated mechanisms with focus on NGF dependent pain insensitivity and ISCU myopathy

    Author : Elin Larsson; Monica Holmberg; Geoff Woods; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; monogenic; disease; NGF; receptor; pain insensitivity; ISCU; myopathy; splicing; molecular medicine medical sciences ; molekylär medicin medicinska vetenskaper ;

    Abstract : Monogenic diseases make excellent models for the study of gene functions and basal cellular mechanisms in humans. The aim of this thesis was to elucidate how genetic mutations affect the basal cellular mechanisms in the monogenic diseases Nerve growth factor (NGF) dependent pain insensitivity and Iron-Sulphur cluster assembly protein U (ISCU) myopathy. READ MORE

  5. 3. Genetic and functional studies of hereditary myopathy with lactic acidosis

    Author : Angelica Nordin; Monica Holmberg; Anders Oldfors; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary myopathy with lactic acidosis; ISCU; intron mutation; mouse model; tissue-specific splicing; medicinsk genetik; Medical Genetics;

    Abstract : Hereditary myopathy with lactic acidosis (HML, OMIM#255125) is an autosomal recessive disorder which originates from Västerbotten and Ångermanland in the Northern part of Sweden. HML is characterized by severe exercise intolerance which manifests with tachycardia, dyspnea, muscle pain, cramps, elevated lactate and pyruvate levels, weakness and myoglobinuria. READ MORE

  6. 4. Frameshifting as a tool in analysis of transfer RNA modification and translation

    Author : Ramune Leipuviene; Glenn Björk; Diana Downs; Umeå universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular biology; minor tRNA; frameshifting; suppression; L9; hopping; tRNA thiolation; [Fe-S] cluster; [Fe-S] protein; TtcA; Molekylärbiologi; Molecular biology; Molekylärbiologi; molekylärbiologi; Molecular Biology;

    Abstract : Studies of ribosomal reading frame maintenance are often based on frameshift mutation suppression experiments. In this thesis, suppression of a frameshift mutation in Salmonella enterica serovar Typhimurium by a tRNA and a ribosomal protein are described. READ MORE

  7. 5. Formation of Thiolated Nucleosides in tRNA in Salmonella enterica serovar typhimurium

    Author : Hans Lundgren; Glenn Björk; Charles Lauhon; Umeå universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; : tRNA; modified nucleosides; thiolation; sulfur metabolism; Salmonella; Molecular biology; Molekylärbiologi;

    Abstract : The presence and synthesis of transfer RNA (tRNA) is highly conserved in all organisms and a lot of genetic material is dedicated to its synthesis. tRNA contains a large number of modified nucleosides and several diverse functions have been found but much about their function is still unknown. READ MORE