Concepedia

<i>C9orf72</i> poly(GR) aggregation induces TDP-43 proteinopathy

Casey Cook, Yanwei Wu, Hana M. Odeh, Tania F. Gendron, Karen Jansen‐West, Giulia del Rosso, Mei Yue, Peizhou Jiang, Edward Gomes, Jimei Tong,

Science Translational Medicine · 2020 · 196 citations · 47 references

DOIFull text

Open access

Concepts

Abstract

-targeted therapeutics reduce TDP-43 pathology in vivo, and demonstrate that alterations in plasma NFL provide insight into the therapeutic efficacy of disease-modifying treatments.

References

47

Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

Manuela Neumann, Deepak M. Sampathu, Linda K. Kwong et al. · Science · 2006 · 6.6K citations

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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 · 4.5K citations · Full text

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TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Tetsuaki Arai, Masato Hasegawa, Haruhiko Akiyama et al. · Biochemical and Biophysical Research Communications · 2006 · 2.8K citations

, , +11

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

Andrew C. Elden, Hyung Jun Kim, Michael P. Hart et al. · Nature · 2010 · 1.3K citations

, , +10

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

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