WWOX P47T partial loss-of-function mutation induces epilepsy, progressive neuroinflammation, and cerebellar degeneration in mice phenocopying human SCAR12

Keyphrases

• Gain-of-function mutation 100%
• Epilepsy 100%
• Neuroinflammation 100%
• Cerebellar Degeneration 100%
• Partial Loss 100%
• Phenocopying 100%
• SCAR12 100%
• Loss Function 75%
• Mouse Model 50%
• Proline 50%
• Cerebellar Dysfunction 50%
• WWOX Gene 50%
• Knock-in Mouse Model 25%
• Purkinje Cell 25%
• Ligand-binding Domain 25%
• Brain Regions 25%
• Ataxia 25%
• Mouse Brain 25%
• Neurodegeneration 25%
• Biallelic 25%
• Protein Binding 25%
• Neuropathology 25%
• Intellectual Disability 25%
• ASTRO 25%
• Phenocopy 25%
• Dendrite 25%
• Cerebellar Cortex 25%
• Gene Loss 25%
• Granular Layer 25%
• Molecular Layer 25%
• WW Domain 25%
• Social Behavior 25%
• Bioprocess 25%
• Motor Coordination 25%
• Germline Variants 25%
• Transcriptome Profiling 25%
• Layer Thickness 25%
• Microgliosis 25%
• Social Cognition 25%
• Ataxic 25%
• Behavior Deficits 25%
• Wwox 25%
• Novel Risk Factors 25%
• Autosomal Recessive Cerebellar Ataxia 25%
• Tyrosine Motif 25%
• Epileptic 25%
• Pathway Enrichment 25%
• Neurodegenerative Conditions 25%
• Domain Loss 25%
• Cognition Deficits 25%

Neuroscience

• Ataxia 100%
• Proline 100%
• Loss of Function Mutation 100%
• Transcriptome 50%
• Purkinje Cell 50%
• Neurodegeneration 50%
• Germ Cell 50%
• Protein Binding 50%
• Mouse Brain 50%
• Dendrite 50%
• Cerebellar Cortex 50%
• Gliosis 50%
• Motor Coordination 50%
• Social Behavior 50%
• WW Domain 50%
• Gene Loss 50%

Biochemistry, Genetics and Molecular Biology

• Loss of Function Mutation 100%
• WWOX 100%
• Mouse Model 28%
• Proline 28%
• Tyrosine 14%
• Germline 14%
• Germ Cell 14%
• Gene Expression Profiling 14%
• Binding Domain 14%
• Binding Protein 14%
• Autosomal Recessive Inheritance 14%
• Phenocopy 14%
• Gene Loss 14%
• Purkinje Cell 14%
• WW Domain 14%
• Gliosis 14%
• Intellectual Disability 14%
• Motor Coordination 14%