Michael Orth

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects

The paper identifies genetic modifiers of somatic CAG expansion and clinical phenotypes in Huntington's disease, revealing shared and tissue-specific effects on disease timing and pathogenic processes.

Abnormal molecular signatures of inflammation, energy metabolism and vesicle biology in human Huntington disease peripheral tissues

The paper identifies molecular signatures of inflammation, energy metabolism, and vesicle biology in peripheral tissues of Huntington disease patients, suggesting their potential as biomarkers for clinical trials.

Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1

The paper identifies a tandem hexamer repeat in TCERG1 that modifies age at motor onset in Huntington's disease, explaining the effect of a previously associated SNP.

Nucleolar stress controls mutant Huntingtin toxicity and monitors Huntington disease progression

This study shows that nucleolar stress affects mutant Huntingtin toxicity and progression in Huntington disease by altering rRNA maturation and NPM1 localization.

The timing and impact of psychiatric, cognitive and motor abnormalities in Huntington's disease

This study examines the prevalence, timing, and functional impact of psychiatric, cognitive, and motor symptoms in Huntington's disease gene carriers using clinical data from a large cohort.

Genetic risk underlying psychiatric and cognitive symptoms in Huntington’s Disease

The paper investigates genetic risk factors for psychiatric and cognitive symptoms in Huntington’s Disease using polygenic risk scores and finds associations between specific psychiatric risk scores and corresponding symptoms.

Huntington's disease onset is determined by length of uninterrupted CAG, not encoded polyglutamine, and is modified by DNA maintenance mechanisms

This study shows that the length of uninterrupted CAG repeats, not the encoded polyglutamine segment, determines Huntington's disease onset, and DNA maintenance genes modify this process.