Artículo
Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins
Autor/es | Valdés Sánchez, Lourdes
Calado, Sofía M. Cerda, Berta De la Aramburu, Ana García Delgado, Ana Belén Massalini, Simone Montero Sánchez, Adoración Bhatia, Vaibhav Rodríguez Bocanegra, Eduardo Diez Lloret, Andrea Rodríguez Martínez, Daniel Chakarova, Christina Bhattacharya, Shomi S. Díaz Corrales, Francisco Javier |
Departamento | Universidad de Sevilla. Departamento de Genética |
Fecha de publicación | 2020 |
Fecha de depósito | 2020-05-12 |
Publicado en |
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Resumen | Mutations in pre-mRNA splicing factor PRPF31 can lead to retinitis pigmentosa (RP). Although the exact disease mechanism remains unknown, it has been hypothesized that haploinsufficiency might be involved in the pathophysiology of the disease. |
Cita | Valdés Sánchez, L., Calado, S.M., Cerda, B.D.l., Aramburu, A., García Delgado, A.B., Massalini, S.,...,Díaz Corrales, F.J. (2020). Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins. Molecular Medicine, 26 (1), 1-22. |
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