Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers-Reference-Cited by-同舟云学术

Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

Published:2018-08-03 Issue:1 Volume:6 Page:
ISSN:2051-5960
Container-title:Acta Neuropathologica Communications
language:en
Short-container-title:acta neuropathol commun

Author:

Frick Petra,Sellier Chantal,Mackenzie Ian R. A.,Cheng Chieh-Yu,Tahraoui-Bories Julie,Martinat Cecile,Pasterkamp R. Jeroen,Prudlo Johannes,Edbauer Dieter,Oulad-Abdelghani Mustapha,Feederle Regina,Charlet-Berguerand Nicolas,Neumann Manuela^ORCID

Funder

Helmholtz-Gemeinschaft

NOMIS Stiftung

Fondation Thierry Latran

AFM-Téléthon

European Research Council

Canadian Institutes of Health Research

Canadian Consortium on Neurodegeneration in Aging

Dutch ALS Foundation

Munich Cluster of Systems Neurology

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1186/s40478-018-0579-0.pdf

Reference60 articles.

1. Amick J, Roczniak-Ferguson A, Ferguson SM (2016) C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling. Mol Biol Cell 27:3040–3051. https://doi.org/10.1091/mbc.E16-01-0003

2. 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

3. Atanasio A, Decman V, White D, Ramos M, Ikiz B, Lee HC et al (2016) C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice. Sci Rep 6:23204. https://doi.org/10.1038/srep23204

4. Atkinson RA, Fernandez-Martos CM, Atkin JD, Vickers JC, King AE (2015) C9ORF72 expression and cellular localization over mouse development. Acta Neuropathol Commun 3:59. https://doi.org/10.1186/s40478-015-0238-7

5. Bertrand A, Wen J, Rinaldi D, Houot M, Sayah S, Camuzat A et al (2017) Early cognitive, structural, and microstructural changes in Presymptomatic C9orf72 carriers younger than 40 years. JAMA Neurol. https://doi.org/10.1001/jamaneurol.2017.4266

Cited by 91 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A robust evaluation of TDP-43, poly GP, cellular pathology and behavior in a AAV-C9ORF72 (G₄C₂)₆₆mouse model;2024-08-27

2. C9orf72repeat expansion-carrying iPSC-microglia from FTD patients show increased phagocytic activity concomitantly with decreased number of autophagosomal-lysosomal vesicles;2024-08-17

3. The prion-like effect and prion-like protein targeting strategy in amyotrophic lateral sclerosis;Heliyon;2024-08

4. C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role?;Revue Neurologique;2024-05

5. Reversal of C9orf72 mutation-induced transcriptional dysregulation and pathology in cultured human neurons by allele-specific excision;Proceedings of the National Academy of Sciences;2024-04-15