Global ETD Search

Somatic instability in Huntington disease and its impact on transcription and translation

Wagner, MaximilianUniversität Ulm

ulm-diss Repository record for Somatic instability in Huntington disease and its impact on transcription and translation (opens in a new tab)

Somatic expansion of premutation alleles and the role of the mismatch repair and base excision repair proteins on repeat expansion in a mouse model of the fragile X-related disorders

Lokanga, Rachel AdiheDivision of Medical Biochemistry2016

… shown that in addition to germ line expansion, somatic expansion also occurs in a human cell line in vivo and in a FX PM mouse model. In the mouse model, we found that the extent of somatic instability is dependent on age, gender and tissue. Specifically, organs such as brain, liver and gonads …

cape-town Repository record for Somatic expansion of premutation alleles and the role of the mismatch repair and base excision repair proteins on repeat expansion in a mouse model of the fragile X-related disorders (opens in a new tab)

Exploring central and enteric nervous system vulnerability in Huntington’s Disease: hints from a knock-in animal model

Bergonzoni, GuendalinaUniversità degli studi di Trento2025

… D2R-MSNs showed greater sensitivity to CAG somatic instability, potentially contributing to their earlier susceptibility to HD. While HD central nervous system symptoms are well-documented, the ubiquitous expression of mutant huntingtin results in a range of peripheral symptoms, including …

trento Repository record for Exploring central and enteric nervous system vulnerability in Huntington’s Disease: hints from a knock-in animal model (opens in a new tab)