PhenomeGene — Human Disease Gene Website SeriesVRK1

Publications

El-Bazzal L et al. Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.Hum Mol Genet. 2019;28(14):2378-2394. PMID: 31090908.

Gonzaga-Jauregui C et al. Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurology, 2013;70(12), 1491–1498. PMID: 24126608.

Greenbaum L et al. Identification of a homozygous VRK1 mutation in two patients with adult‐onset distal hereditary motor neuropathy.Muscle & Nerve, 2020; 61(3), 395–400. PMID: 31837156.

Ivanov I. Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype–phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.European Journal of Paediatric Neurology, 2018; 22(4), 674–681. PMID: 29656927.

Li N et al. A novel mutation in VRK1 associated with distal spinal muscular atrophy.Journal of Human Genetics, 2019; 64(3), 215–219. PMID: 30617279.

Martín-Doncel E et al. VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes.Scientific Reports, 2019; 9(1). PMID: 31527692.

Monsalve DM et al. VRK1 phosphorylates and protects NBS1 from ubiquitination and proteasomal degradation in response to DNA damage.Biochimica et Biophysica Acta - Molecular Cell Research, 2016; 1863(4), 760–769. PMID: 26869104.

Najmabadi H et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders.Nature. 2011;478(7367):57-63. PMID: 21937992.

Renbaum P. et al. Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene.American Journal of Human Genetics, 2009; 85(2), 281–289. PMID: 19646678.

Sedghi M et al. Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study.Annals of Clinical and Translational Neurology, 2019;6(11), 2197–2204. PMID: 31560180.

Silva DP et al. VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2020 1–5. PMID: 32242460.

Vinograd-Byk H et al. The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.J Neurosci. 2015;35(3):936-42. PMID: 25609612.