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ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by homozygous mutation or deletion of the survival motor neuron 1 (SMN1) gene. A second copy, SMN2, is similar to SMN1 but produces ∼10% SMN protein because of a single-point mutation that causes splicing defects. Chronic low levels of...
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| Vydáno v: | Brain |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Oxford University Press
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6935747/ https://ncbi.nlm.nih.gov/pubmed/31828288 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awz373 |
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