Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease-Reference-Cited by-同舟云学术

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Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease

Published:2017-08-14 Issue:5 Volume:134 Page:715-728
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Ebbert Mark T. W.,Ross Christian A.,Pregent Luc J.,Lank Rebecca J.,Zhang Cheng,Katzman Rebecca B.,Jansen-West Karen,Song Yuping,da Rocha Edroaldo Lummertz,Palmucci Carla,Desaro Pamela,Robertson Amelia E.,Caputo Ana M.,Dickson Dennis W.,Boylan Kevin B.,Rademakers Rosa,Ordog Tamas,Li Hu,Belzil Veronique V.

Funder

National Institute on Aging

National Institute of Neurological Disorders and Stroke

Mayo Clinic

Amyotrophic Lateral Sclerosis Association

Donors Cure Foundation

ALS Society of Canada

Fondation Brain Canada

Institute of Genetics

Siragusa Foundation

Robert and Clarice Smith & Abigail Van Buren Alzheimer’s Disease Research Foundation

Publisher

Springer Science and Business Media LLC

Subject

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

Link

http://link.springer.com/article/10.1007/s00401-017-1760-4/fulltext.html

Reference47 articles.

1. Akalin A, Kormaksson M, Li S, Garrett-Bakelman FE, Figueroa ME, Melnick A et al (2012) methylKit: a comprehensive R package for the analysis of genome-wide DNA methylation profiles. Genome Biol 13:R87. doi: 10.1186/gb-2012-13-10-r87

2. Amaral PP, Dinger ME, Mercer TR, Mattick JS (2008) The eukaryotic genome as an RNA machine. Science 319:1787–1789. doi: 10.1126/science.1155472

3. Belzil VV, Bauer PO, Gendron TF, Murray ME, Dickson D, Petrucelli L (2014) Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients. Brain Res 1584:15–21. doi: 10.1016/j.brainres.2014.02.015

4. Belzil VV, Bauer PO, Prudencio M, Gendron TF, Stetler CT, Yan IK et al (2013) Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood. Acta Neuropathol 126:895–905. doi: 10.1007/s00401-013-1199-1

5. Belzil VV, Gendron TF, Petrucelli L (2012) RNA-mediated toxicity in neurodegenerative disease. Mol Cell Neurosci 56C:406–419. doi: 10.1016/j.mcn.2012.12.006

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