Treating Huntington’s with oligonucleotides

Applying Bioinfomatics Strategies in Huntingtons Disease Research

Treating a Patient with Bone Marrow Edema Syndrome with Iloprost

Bone Marrow Edema Syndrome (BMES) is an uncommon, self-limited and with unknown etiology characterized by severe pain with no history of trauma. Due to low prevalence of BMES and its non-specific signs, correct diagnosis is often delayed intensifying bone pain and impairing patients’ function and quality of life. In this study we treated a patient with bone marrow edema syndrome in right a...

Redirecting splicing with bifunctional oligonucleotides

Ectopic modulators of alternative splicing are important tools to study the function of splice variants and for correcting mis-splicing events that cause human diseases. Such modulators can be bifunctional oligonucleotides made of an antisense portion that determines target specificity, and a non-hybridizing tail that recruits proteins or RNA/protein complexes that affect splice site selection ...

Huntingtin and the molecular pathogenesis of Huntingtons disease

Huntington’s disease (HD) is a late-onset neurodegenerative disorder that is caused by a CAG repeat expansion in the IT15 gene, which results in a long stretch of polyglutamine close to the amino-terminus of the HD protein huntingtin (htt). The normal function of htt, and the molecular mechanisms that contribute to the disease pathogenesis, are in the process of being elucidated. In this review...

MRI Tz Hypointensities in basal ganglia of premanifest Huntingtons disease