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| Status |
Public on Sep 29, 2021 |
| Title |
Comparative transcriptome analysis in monocyte-derived macrophages of asymptomatic GBA mutation carriers and patients with GBA-associated Parkinson’s disease |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
We compared transcriptome of monocyte-derived macrophages of 5 patients with GBA-PD (4 L444P/N, 1 N370S/N) and 4 asymptomatic GBA mutation carriers (GBA-carriers) (3 L444P/N, 1 N370S/N) and 4 controls. We also conducted comparative transcriptome analysis for L444P/N only GBA-PD patients and GBA-carriers. Revealed deregulated genes in GBA-PD independently of GBA mutations (L444P or N370S) were involved in immune response, neuronal function. We found upregulated pathway associated with zinc metabolism in L444P/N GBA-PD patients. The potential important role of DUSP1 in the pathogenesis of GBA-PD was suggested.
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| Overall design |
5 patients with GBA-PD and 4 GBA-carriers and also 4 neurological healthy individuals were enrolled for the current study
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| Contributor(s) |
Usenko T, Bezrukova A, Basharova K, Panteleeva A, Nikolaev M, Kopytova A, Miliukhina I, Emelyanov A, Zakharova E, Pchelina S |
| Citation(s) |
34680941 |
| Submission date |
Sep 28, 2021 |
| Last update date |
Oct 27, 2021 |
| Contact name |
Katerina Basharova |
| E-mail(s) |
kbasharova16@gmail.com
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| Organization name |
NRC "Kurchatov Institute" - PNPI
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| Street address |
1, mkr. Orlova roshcha
|
| City |
Gatchina |
| ZIP/Postal code |
188300 |
| Country |
Russia |
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| Platforms (1) |
| GPL18460 |
Illumina HiSeq 1500 (Homo sapiens) |
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| Samples (13)
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| Relations |
| BioProject |
PRJNA767096 |
| SRA |
SRP339169 |
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