Article
hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations.
Acta neuropathologica - 1 Mar 2013
Mori Kohji, Lammich Sven, Mackenzie Ian R A, Forné Ignasi, Zilow Sonja, Kretzschmar Hans, Edbauer Dieter, Janssens Jonathan, Kleinberger Gernot, Cruts Marc, Herms Jochen, Neumann Manuela, Van Broeckhoven Christine, Arzberger Thomas, Haass Christian
Abstract excerpt
Genetic analysis revealed the hexanucleotide repeat expansion GGGGCC within the regulatory region of the gene C9orf72 as the most common cause of familial amyotrophic lateral sclerosis and the second most common cause of frontotemporal lobar degeneration. Since repeat expansions might cause RNA toxicity via sequestration of RNA-binding proteins, we searched for proteins capable of binding to GGGGCC repeats. In...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
