Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1

A novel mutation in VRK1 associated with distal spinal muscular atrophy

(2019) Nannan Li et al.   JOURNAL OF HUMAN GENETICS

VarAFT: a variant annotation and filtration system for human next generation sequencing data

(2018) Jean-Pierre Desvignes et al.   NUCLEIC ACIDS RESEARCH

VRK1 phosphorylates and protects NBS1 from ubiquitination and proteasomal degradation in response to DNA damage

(2016) Diana M. Monsalve et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

(2016) David Salgado et al.   HUMAN MUTATION

Novel motor phenotypes in patients withVRK1mutations without pontocerebellar hypoplasia

(2016) Marion Stoll et al.   NEUROLOGY

Towards an understanding of regulating Cajal body activity by protein modification

(2016) Michael D. Hebert et al.   RNA Biology

Cajal bodies in neurons

(2016) Miguel Lafarga et al.   RNA Biology

Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies

(2015) Nivedita U. Jerath et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

PMPCAmutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

(2015) Rebekah K. Jobling et al.   BRAIN

The Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Gene VRK1 Regulates Neuronal Migration through an Amyloid-  Precursor Protein-Dependent Mechanism

(2015) H. Vinograd-Byk et al.   JOURNAL OF NEUROSCIENCE

VRK1 regulates Cajal body dynamics and protects coilin from proteasomal degradation in cell cycle

(2015) Lara Cantarero et al.   Scientific Reports

Recent advances in Charcot–Marie–Tooth disease

(2014) Jonathan Baets et al.   CURRENT OPINION IN NEUROLOGY

Phosphoregulation of the human SMN complex

(2014) Alma Husedzinovic et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

Depletion of the protein kinase VRK1 disrupts nuclear envelope morphology and leads to BAF retention on mitotic chromosomes

(2014) Tyler P. Molitor et al.   MOLECULAR BIOLOGY OF THE CELL

Combinatorial analysis of developmental cues efficiently converts human pluripotent stem cells into multiple neuronal subtypes

(2014) Yves Maury et al.   NATURE BIOTECHNOLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Intracerebroventricular Injection of Adeno-Associated Virus 6 and 9 Vectors for Cell Type–Specific Transgene Expression in the Spinal Cord

(2013) Elisabeth Dirren et al.   HUMAN GENE THERAPY

Clinical implications of genetic advances in Charcot–Marie–Tooth disease

(2013) Alexander M. Rossor et al.   Nature Reviews Neurology

Overlapping molecular pathological themes link Charcot–Marie–Tooth neuropathies and hereditary spastic paraplegias

(2012) Vincent Timmerman et al.   EXPERIMENTAL NEUROLOGY

Reorganization of Cajal bodies and nucleolar targeting of coilin in motor neurons of type I spinal muscular atrophy

(2012) Olga Tapia et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Analysis of Embryoid Bodies Derived from Human Induced Pluripotent Stem Cells as a Means to Assess Pluripotency

(2012) Steven D. Sheridan et al.   Stem Cells International

Roles of VRK1 as a new player in the control of biological processes required for cell division

(2011) Alberto Valbuena et al.   CELLULAR SIGNALLING

Substrate profiling of human vaccinia-related kinases identifies coilin, a Cajal body nuclear protein, as a phosphorylation target with neurological implications

(2011) Marta Sanz-García et al.   Journal of Proteomics

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Comparison of solution-based exome capture methods for next generation sequencing

(2011) Anna-Maija Sulonen et al.   GENOME BIOLOGY

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

(2010) H. Skre   CLINICAL GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

(2009) Paul Renbaum et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Cajal-body formation correlates with differential coilin phosphorylation in primary and transformed cell lines

(2009) S. M. Hearst et al.   JOURNAL OF CELL SCIENCE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

VRK1 phosphorylates CREB and mediates CCND1 expression

(2008) T.-H. Kang et al.   JOURNAL OF CELL SCIENCE

Human VRK1 Is an Early Response Gene and Its Loss Causes a Block in Cell Cycle Progression

(2008) Alberto Valbuena et al.   PLoS One