Dipeptide repeat (DPR) pathology in the skeletal muscle of ALS patients with C9ORF72 repeat expansion
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Clinical Neurology,Pathology and Forensic Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00401-019-02050-8.pdf
Reference15 articles.
1. Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M et al (2013) Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77:639–646. https://doi.org/10.1016/j.neuron.2013.02.004
2. Cykowski MD, Powell SZ, Appel JW, Arumanayagam AS, Rivera AL, Appel SH (2018) Phosphorylated TDP-43 (pTDP-43) aggregates in the axial skeletal muscle of patients with sporadic and familial amyotrophic lateral sclerosis. Acta Neuropathol Commun 6:28. https://doi.org/10.1186/s40478-018-0528-y
3. Freibaum BD, Lu Y, Lopez-Gonzalez R, Kim NC, Almeida S, Lee KH et al (2015) GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport. Nature 525:129–133. https://doi.org/10.1038/nature14974
4. Freibaum BD, Taylor JP (2017) The role of dipeptide repeats in C9ORF72-related ALS-FTD. Front Mol Neurosci 10:35. https://doi.org/10.3389/fnmol.2017.00035
5. Gilbert AR, Chevez-Barrios P, Cykowski MD (2018) Perineurial-like cells and EMA expression in the suprachoroidal region of the human eye. J Histochem Cytochem 66:367–375. https://doi.org/10.1369/0022155418756308
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