Publication Date
4-1-2023
Journal
Progress in Neurobiology
Abstract
WWOX gene loss-of-function (LoF) has been associated with neuropathologies resulting in developmental, epileptic, and ataxic phenotypes of varying severity based on the level of WWOX dysfunction. WWOX gene biallelic germline variant p.Pro47Thr (P47T) has been causally associated with a new form of autosomal recessive cerebellar ataxia with epilepsy and intellectual disability (SCAR12, MIM:614322). This mutation affecting the WW1 protein binding domain of WWOX, impairs its interaction with canonical proline-proline-X-tyrosine motifs in partner proteins. We generated a mutant knock-in mouse model of Wwox P47T mutation that phenocopies human SCAR12. Wwox
Keywords
Humans, Mice, Animals, Neuroinflammatory Diseases, Epilepsy, Mutation, Cerebellar Diseases, Phenotype, Neurodegenerative Diseases, WW Domain-Containing Oxidoreductase, Tumor Suppressor Proteins
Included in
Bioinformatics Commons, Biological Phenomena, Cell Phenomena, and Immunity Commons, Biomedical Informatics Commons, Neuroscience and Neurobiology Commons, Neurosciences Commons
Comments
Supplementary Materials
PMID: 36828035