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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Detalles Bibliográficos
Autores principales: Kannan, Annapoorna, Jiang, Xiaoting, He, Lan, Ahmad, Saif, Gangwani, Laxman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935747/
https://www.ncbi.nlm.nih.gov/pubmed/31828288
http://dx.doi.org/10.1093/brain/awz373

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935747/
https://www.ncbi.nlm.nih.gov/pubmed/31828288
http://dx.doi.org/10.1093/brain/awz373

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