Sökning: "PTBP1"

Hittade 3 avhandlingar innehållade ordet PTBP1.

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

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

    Sammanfattning : 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. LÄS MER

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

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

    Sammanfattning : 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. LÄS MER

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

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

    Sammanfattning : 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. LÄS MER