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Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4

Mutation in the senataxin (SETX) gene causes an autosomal dominant neuromuscular disorder, amyotrophic lateral sclerosis 4 (ALS4), characterized by degeneration of motor neurons, muscle weakness and atrophy. SETX is an RNA-DNA helicase that mediates resolution of co-transcriptional RNA:DNA hybrids (...

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Detalles Bibliográficos
Autores principales: Kannan, Annapoorna, Cuartas, Juliana, Gangwani, Pratik, Branzei, Dana, Gangwani, Laxman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9536298/
https://www.ncbi.nlm.nih.gov/pubmed/35045161
http://dx.doi.org/10.1093/brain/awab464