A5022121722- Amyotrophic Lateral Sclerosis Research
- Prion Diseases and Protein Misfolding
- Neurogenetic and Muscular Disorders Research
University of Massachusetts Chan Medical School
2022
A GGGGCC24+ hexanucleotide repeat expansion (HRE) in the C9ORF72 gene is most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), fatal neurodegenerative diseases with no cure or approved treatments that substantially slow disease progression extend survival. Mechanistic underpinnings neuronal death include haploinsufficiency, sequestration RNA-binding proteins nucleus, production dipeptide proteins. Here, we used an adeno-associated viral vector...
Abstract A hexanucleotide repeat expansion (HRE) consisting of GGGGCC 24+ in the C9ORF72 gene is most common genetic cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Both are fatal neurodegenerative diseases with no current approved treatments that significantly slow disease progression or extend life expectancy. Several hypotheses have emerged to explain how this HRE causes neuronal death, including haploinsufficiency, sequestration RNA-binding proteins nucleus,...