Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia

BACKGROUND AND OBJECTIVES: To conduct a genetic and molecular functional study of a family with members affected of hereditary spastic paraplegia (HSP) of unknown origin and carrying a novel pathogenic vaccinia-related kinase 1 (VRK1) variant. METHODS: Whole-exome sequencing was performed in 2 patie...

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Detalles Bibliográficos
Autores principales: Morejon-Garcia, Patricia, Keren, Boris, Marcos-Alcalde, Iñigo, Gomez-Puertas, Paulino, Mochel, Fanny, Lazo, Pedro. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8422991/
https://www.ncbi.nlm.nih.gov/pubmed/34504951
http://dx.doi.org/10.1212/NXG.0000000000000624

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8422991/
https://www.ncbi.nlm.nih.gov/pubmed/34504951
http://dx.doi.org/10.1212/NXG.0000000000000624

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