Evidence that C9ORF72 Dipeptide Repeat Proteins Associate with U2 snRNP to Cause Mis-splicing in ALS/FTD Patients

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Alan E. Renton, Elisa Majounie, Adrian J. Waite et al. · Neuron · 2011 · 4.4K citations · Full text

Chromatin, Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis +8

SMART: recent updates, new developments and status in 2015

Ivica Letunić, Tobias Doerks, Peer Bork · Nucleic Acids Research · 2014 · 1.8K citations · Full text

The <i>C9orf72</i> GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

Kohji Mori, Shih‐Ming Weng, Thomas Arzberger et al. · Science · 2013 · 1.3K citations

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

Peter E.A. Ash, Kevin F. Bieniek, Tania F. Gendron et al. · Neuron · 2013 · 1.1K citations · Full text

Biochemistry, Unconventional Translation, Protein Folding +4

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

Ke Zhang, Christopher J. Donnelly, Aaron R. Haeusler et al. · Nature · 2015 · 974 citations

Natural Sciences, Molecular Biology, Dna Replication +6