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SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members

Although recent advances in gene therapy provide hope for spinal muscular atrophy (SMA) patients, the pathology remains the leading genetic cause of infant mortality. SMA is a monogenic pathology that originates from the loss of the SMN1 gene in most cases or mutations in rare cases. Interestingly,...

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Detalles Bibliográficos
Autores principales: Binda, Olivier, Juillard, Franceline, Ducassou, Julia Novion, Kleijwegt, Constance, Paris, Geneviève, Didillon, Andréanne, Baklouti, Faouzi, Corpet, Armelle, Couté, Yohann, Côté, Jocelyn, Lomonte, Patrick
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Life Science Alliance LLC 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9684302/
https://www.ncbi.nlm.nih.gov/pubmed/36375840
http://dx.doi.org/10.26508/lsa.202201429