C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy-Reference-Cited by-同舟云学术

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C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

Published:2019-07-20 Issue:5 Volume:138 Page:795-811
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Cali Christopher P.,Patino Maribel,Tai Yee Kit,Ho Wan Yun,McLean Catriona A.,Morris Christopher M.,Seeley William W.,Miller Bruce L.,Gaig Carles,Vonsattel Jean Paul G.,White Charles L.,Roeber Sigrun,Kretzschmar Hans,Troncoso Juan C.,Troakes Claire,Gearing Marla,Ghetti Bernardino,Van Deerlin Vivianna M.,Lee Virginia M.-Y.,Trojanowski John Q.,Mok Kin Y.,Ling Helen,Dickson Dennis W.,Schellenberg Gerard D.,Ling Shuo-Chien,Lee Edward B.^ORCID

Funder

UK Medical Research Council

National Institutes of Health

CurePSP

The Tau Consortium

CBD Solutions

National Medical Research Council Singapore

Ministry of Education Singapore

Reta Lila Weston Trust

Tau Consortium

Bluefield Project to Cure FTD

NIHR Newcastle Biomedical Research Center

Alzheimer’s Society and Alzheimer’s Research UK

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/s00401-019-02045-5.pdf

Reference87 articles.

1. Akimoto C, Forsgren L, Linder J, Birve A, Backlund I, Andersson J et al (2013) No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden. Amyotroph Lateral Scler Front Degener 14:26–29. https://doi.org/10.3109/17482968.2012.725415

2. Amick J, Tharkeshwar AK, Amaya C, Ferguson SM (2018) WDR41 supports lysosomal response to changes in amino acid availability. Mol Biol Cell 29:2213–2227. https://doi.org/10.1091/mbc.E17-12-0703

3. Antonelli M, Barilà D, Manic G, Brandi R, Sambucci M, Arisi I et al (2017) ATM kinase sustains breast cancer stem-like cells by promoting ATG4C expression and autophagy. Oncotarget 8:21692–21709. https://doi.org/10.18632/oncotarget.15537

4. Aoki Y, Manzano R, Lee Y, Dafinca R, Aoki M, Douglas AGL et al (2017) C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia. Brain 140:887–897. https://doi.org/10.1093/brain/awx024

5. Armstrong MJ, Litvan I, Lang AE, Bak TH, Bhatia KP, Borroni B et al (2013) Criteria for the diagnosis of corticobasal degeneration. Neurology 80:496–503. https://doi.org/10.1212/WNL.0b013e31827f0fd1

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1. Analysis of normal C9orf72 repeat length as possible disease modifier in amyotrophic lateral sclerosis;Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration;2023-11

2. C9orf72-catalyzed GTP loading of Rab39A enables HOPS-mediated membrane tethering and fusion in mammalian autophagy;Nature Communications;2023-10-11

3. Current insights in the molecular genetic pathogenesis of amyotrophic lateral sclerosis;Frontiers in Neuroscience;2023-08-10

4. Evaluation of the role of FMR1 CGG repeat allele in Parkinson’s disease from the Chinese population;Frontiers in Aging Neuroscience;2023-07-31

5. No Association of Multiple Sclerosis with C9orf72 Hexanucleotide Repeat Size in an Austrian Cohort;International Journal of Molecular Sciences;2023-07-09

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