Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS
| العنوان: | Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS |
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| المؤلفون: | Christian A. Ross, Mary D. Davis, Sherri M. Biendarra, Marka van Blitterswijk, Mercedes Prudencio, Ralph B. Perkerson, Amelia E Piazza-Johnston, Caroline Stetler, Ranjan Batra, Kevin F. Bieniek, Karen Overstreet, Rosa Rademakers, Kevin B. Boylan, Leonard Petrucelli, Hu Li, Matt Baker, Christopher D. Link, Luc Pregent, Michael DeTure, Melissa E. Murray, Tania F. Gendron, Pamela Desaro, Veronique V. Belzil, Wing C. Lee, Dennis W. Dickson |
| المصدر: | Nature neuroscience |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Adult, Polyadenylation, Biology, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, C9orf72, Cerebellum, parasitic diseases, medicine, Humans, Amyotrophic lateral sclerosis, Genetic Association Studies, 030304 developmental biology, Aged, Regulation of gene expression, Genetics, 0303 health sciences, C9orf72 Protein, Heterogeneous-Nuclear Ribonucleoprotein Group F-H, Sequence Analysis, RNA, General Neuroscience, Alternative splicing, Amyotrophic Lateral Sclerosis, C9orf72 Gene, RNA, Proteins, Middle Aged, medicine.disease, Frontal Lobe, Alternative Splicing, Gene Expression Regulation, Human medicine, Neuroscience, 030217 neurology & neurosurgery |
| الوصف: | Increasing evidence suggests that defective RNA processing contributes to the development of amyotrophic lateral sclerosis (ALS). This may be especially true for ALS caused by a repeat expansion in C9orf72 (c9ALS), in which the accumulation of RNA foci and dipeptide-repeat proteins are expected to modify RNA metabolism. We report extensive alternative splicing (AS) and alternative polyadenylation (APA) defects in the cerebellum of c9ALS subjects (8,224 AS and 1,437 APA), including changes in ALS-associated genes (for example, ATXN2 and FUS), and in subjects with sporadic ALS (sALS; 2,229 AS and 716 APA). Furthermore, heterogeneous nuclear ribonucleoprotein H (hnRNPH) and other RNA-binding proteins are predicted to be potential regulators of cassette exon AS events in both c9ALS and sALS. Co-expression and gene-association network analyses of gene expression and AS data revealed divergent pathways associated with c9ALS and sALS. |
| تدمد: | 1546-1726 1097-6256 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c4c886437ded21eaa7525c31003118d https://pubmed.ncbi.nlm.nih.gov/26240037 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....6c4c886437ded21eaa7525c31003118d |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 15461726 10976256 |
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