Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo
Tiffany W. Todd, Zachary T. McEachin, Jeannie Chew, Alexander R. Burch, Karen Jansen‐West, Jimei Tong, Mei Yue, Yuping Song, Monica Castanedes‐Casey, Aishe Kurti, Judith Dunmore, John Denis Fryer, Yong‐Jie Zhang, Beatriz San Millán, Susana Teijeira, Manuel Arias, Dennis W. Dickson, Tania F. Gendron, María-Jesús Sobrido, Matthew D. Disney, Gary J. Bassell, Wilfried Rossoll, Leonard Petrucelli
Abstract
repeat induces the formation of aberrant stress granules and pTDP-43 inclusions. Overall, our results demonstrate that the pathomechanisms responsible for each disease are intrinsic to the individual repeat sequence, highlighting the importance of sequence-specific RNA-mediated toxicity in each disorder.
Topics & Concepts
C9orf72Trinucleotide repeat expansionNeurodegenerationBiologyAmyotrophic lateral sclerosisAtaxiaSpinocerebellar ataxiaGeneticsIntronRNA-binding proteinRNANeuroscienceCell biologyDiseaseGeneMedicinePathologyAlleleAmyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative DiseasesNeurogenetic and Muscular Disorders Research