VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes

Very rare polymorphisms in the human VRK1 (vaccinia-related kinase 1) gene have been identified in complex neuromotor phenotypes associated to spinal muscular atrophy (SMA), pontocerebellar hypoplasia (PCH), microcephaly, amyotrophic lateral sclerosis (ALS) and distal motor neuron dysfunctions. The...

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Detalles Bibliográficos
Autores principales: Martín-Doncel, Elena, Rojas, Ana M., Cantarero, Lara, Lazo, Pedro A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6746721/
https://www.ncbi.nlm.nih.gov/pubmed/31527692
http://dx.doi.org/10.1038/s41598-019-49821-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6746721/
https://www.ncbi.nlm.nih.gov/pubmed/31527692
http://dx.doi.org/10.1038/s41598-019-49821-7

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