Sökning: "triplet repeat"

Hittade 4 avhandlingar innehållade orden triplet repeat.

  1. 1. Development of benzoquinoquinoxaline derivatives as triplex-specific probes : Recognition of DNA structures at repeats sequences

    Författare :Helen Bergquist; Rula Zain; Keith Fox; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Triplex; H-DNA; BQQ; BQQ-OP; BQQ-Bodipy; triplet repeat; DNA; non-B-DNA; pkd1; frataxin; Friedreich s ataxia; Molecular biology; Molekylärbiologi; Molecular Biology; molekylärbiologi;

    Sammanfattning : Repeat sequences are associated with several human diseases, such as Friedreich’s ataxia, polycystic kidney disease and cancer. These sequences can form non-B-DNA structures, including triplex (H-DNA) DNA, and are associated with genomic instability and altered gene expression. LÄS MER

  3. 2. Gene expression profiles at the myotonic dystrophy 1 locus : possible role in disease mechanisms

    Författare :Maria Eriksson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Myotonic dystrophy 1 (DM1) is the commonest adult onset muscular dystrophy, (prevalence 1/8000). The disorder is characterized by anticipation (earlier onset in successive generations, which is accompanied in this disorder by an increase in severity of symptoms) and variable multisystemic symptom presentation. LÄS MER

  4. 3. Targeting nucleic acids in bacteria with synthetic ligands

    Författare :Abbas Nikravesh; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : There is a need for new antibacterial agents, and one attractive strategy is to develop nucleic acid ligands that inhibit pathogen genes selectively. Also, such ligands can be used as molecular biology probes to study gene function and nucleic acid structures. LÄS MER

  5. 4. Energy metabolism as a target for new treatment strategies in Huntington’s disease

    Författare :Marie Sjögren; Biomarkörer vid hjärnsjukdomar; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Huntington´s disease; Energy metabolic alteration; Weight loss; Skeletal muscle; Adipose tissue; R6 2; Ghrelin; Liraglutide;

    Sammanfattning : Huntington´s disease (HD) is a fatal inherited neurodegenerative disorder caused by a CAG triplet repeat expansion in the huntingtin (HTT) gene and characterized by cognitive and motoric dysfunctions as well as psychiatric problems. Accumulating evidence, however, suggests altered energy metabolism and a hyper-catabolic state as key features of HD pathology. LÄS MER