TY  - JOUR
AU  - Martín-Doncel, Elena
AU  - Rojas, Ana M
AU  - Cantarero, Lara
AU  - Lazo, Pedro A
PY  - 2019
DO  - 10.1038/s41598-019-49821-7
UR  - http://hdl.handle.net/10668/14513
T2  - Scientific reports
AB  - 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...
LA  - en
KW  - Alleles
KW  - Amyotrophic Lateral Sclerosis
KW  - Cerebellar Diseases
KW  - Coiled Bodies
KW  - DNA Damage
KW  - Databases, Genetic
KW  - Histones
KW  - Homozygote
KW  - Humans
KW  - Intracellular Signaling Peptides and Proteins
KW  - Microcephaly
KW  - Muscular Atrophy, Spinal
KW  - Mutation
KW  - Neuromuscular Diseases
KW  - Phosphorylation
KW  - Polymorphism, Genetic
KW  - Protein Serine-Threonine Kinases
KW  - Protein Stability
TI  - VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes.
TY  - research article
VL  - 9
ER  -