Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice

• Published in: Human molecular genetics Vol. 29; no. 24; pp. 3900 - 3918
• Main Authors: Pattamatta, Amrutha, Nguyen, Lien, Olafson, Hailey R, Scotti, Marina M, Laboissonniere, Lauren A, Richardson, Jared, Berglund, J Andrew, Zu, Tao, Wang, Eric T, Ranum, Laura P W
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 25.02.2021
• Subjects: Alternative Splicing; Amyotrophic Lateral Sclerosis - etiology; Amyotrophic Lateral Sclerosis - metabolism; Amyotrophic Lateral Sclerosis - pathology; Animals; C9orf72 Protein - genetics; C9orf72 Protein - metabolism; Disease Models, Animal; DNA Repeat Expansion; Frontotemporal Dementia - etiology; Frontotemporal Dementia - metabolism; Frontotemporal Dementia - pathology; Humans; Mice; Mice, Transgenic; Mutation; Penetrance; Phenotype

C9orf72 ALS/FTD patients show remarkable clinical heterogeneity, but the complex biology of the repeat expansion mutation has limited our understanding of the disease. BAC transgenic mice were used to better understand the molecular mechanisms and repeat length effects of C9orf72 ALS/FTD. Genetic an...