As such, some bias in the ascertainment of the full spectrum of mutations could have occurred. The retrospective likelihood approach allows correcting for this bias.17 For cohort 1, carriers of BRCA2 mutations composed a smaller sample set; in particular, the number of women with BRCA2-...
CAG repeats RNA causes various fatal neurodegenerative diseases exemplified by Huntington’s disease (HD) and several spinocerebellar ataxias (SCAs). Although there are differences in the pathogenic mechanisms, these diseases share the common cause, i.e.
Download: Download full-size image Figure 2. SCA3 RAN polyQ proteins form aggregates. (a) Representative images of immunofluorescence staining for AUG-initiated and RAN polyQ proteins (green signal, anti-HA antibody) and RAN polyA proteins (red signal, anti-Myc antibody) in the HEK293T cells ...
Acta Neuropathologica Communications (2014) 2:179 DOI 10.1186/s40478-014-0178-7 RESEARCH Open Access Glucose transporter 3 is a rab11-dependent trafficking cargo and its transport to the cell surface is reduced in neurons of CAG140 Huntington's disease mice Hollis McClory1, Dana Williams1, ...
Full size image Improved survival of R6/2_50 compared to WT mice Improved survival of Hdh 50 CAG repeat mice compared to WT mice R6/2_50 mice show enhanced motor performance on the rotarod Up to a year of age, there was no difference in performance between WT and R6/2_50 mice on ...