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| Status |
Public on Jul 19, 2015 |
| Title |
Distinct brain transcriptome profiles in c9orf72-associated and sporadic ALS |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
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 cases (8,224 AS, 1,437 APA), including changes in ALS-associated genes (e.g. ATXN2 and FUS), and cases of sporadic ALS (sALS; 2,229 AS, 716 APA). Furthermore, hnRNPH and other RNA-binding proteins are predicted as potential regulators of cassette exon AS events for 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.
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| Overall design |
Examination transcriptiome profiles in c9orf72-associated ALS, sporadic ALS and healthy control
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| Contributor(s) |
Prudencio M, Belzil VV, Petrucelli L |
| Citation(s) |
26192745, 28637276 |
| |
| Submission date |
Mar 24, 2015 |
| Last update date |
Mar 12, 2020 |
| Contact name |
Hu Li |
| E-mail(s) |
li.hu@mayo.edu
|
| Organization name |
Mayo Clinic
|
| Department |
Molecular Pharmacology & Experimental Therapeutics
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| Lab |
Systems Biology and Pharmacology
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| Street address |
200 First Street, Gonda Building G19-408
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| City |
Rochester |
| State/province |
MN |
| ZIP/Postal code |
55904 |
| Country |
USA |
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| Platforms (1) |
| GPL11154 |
Illumina HiSeq 2000 (Homo sapiens) |
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| Samples (53)
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| Relations |
| BioProject |
PRJNA279249 |
| SRA |
SRP056477 |