VRK1

AcronymDefinition
VRK1Vaccinia-Related Kinase 1
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References in periodicals archive ?
Lee et al., "Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia," Neurology, vol.
Caption: Figure 4: Pathogenic mechanisms underlying motor neuron disease in children of these genetic variants associated with paediatric motor neuron diseases relate to disordered regulation of autophagy/protein quality control (ASAH1, UBE1, UBQLN1, LYST, ATXN3, and SCP2), RNA processing (VRK1, EXOSC3, EXOSC8, TSEN54, SLC254A6, MORC2, SMN1, TRIP4, ASCC1, UBA1, GLE1, ERBB3, IGHMBP2, and RBM28), and cytoskeletal dynamics (ASAH1, BICD2, and DYNC1H1).
Spinal muscular Age of onset Clinical phenotype Gene atrophy plus syndrome Pontocerebellar Early Severe hypotonia, VRK1 hypoplasia with infancy areflexia, muscle EXOSC3 spinal muscular weakness, central EXOSC8 atrophy (PCH1) visual impairment, TSEN54 dysphagia, respiratory SLC254A6 insufficiency, and acquired microcephaly.