Autor: |
Hallegger, M., Lee, F., Chakrabarti, A., Kuret, K., Luscombe, N., Ule, J., Salcher-Konrad, M., Mizielinska, S., Denton, K., Knight, H., Guzzetti, A., Chen, N., Lukashev, M., Gray, T., Kamelgarn, M., Bussgang, J., Hamwi, Y., Hinckley, S., Elbaum, D., Marques, C. |
Předmět: |
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Zdroj: |
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration; 2021, Vol. 22, p90-103, 14p |
Abstrakt: |
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. TDP-43 triggers mitochondrial DNA release via mPTP to activate cGAS/STING in ALS. TDP-43 regulates the alternative splicing of hnRNP A1 to yield an aggregation-prone variant in amyotrophic lateral sclerosis. [Extracted from the article] |
Databáze: |
Complementary Index |
Externí odkaz: |
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