Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51673
Abstract: HTT full‐penetrance pathogenic repeat expansions, the genetic cause of Huntington's disease (HD), have been recently reported in a minority of frontotemporal dementia/amyotrophic lateral sclerosis (ALS) patients (0.13%). We analyzed HTT CAG repeats in an Italian… read more here.
Keywords: htt cag; repeat; lateral sclerosis; cag ... See more keywords
AAV9-Mediated Intrastriatal Delivery of Mutant HTT With 82 CAG Repeats Induces Huntington's Disease-Like Pathology and Behavioral Deficits in Mice.
Sign Up to like & getrecommendations! Published in 2025 at "Clinical genetics"
DOI: 10.1111/cge.70076
Abstract: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansion in the HTT gene. Existing toxin-induced and genetic models provide important insights, but none fully replicate the progressive pathology of HD.… read more here.
Keywords: aav9 mediated; htt; htt cag; pathology ... See more keywords