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• W3034374417 abstract "Mutations in the WWOX gene cause a broad range of ultra-rare neurodevelopmental and brain degenerative disorders, associated with a high likelihood of premature death in animal models as well as in humans. The encoded Wwox protein is a WW domain-containing oxidoreductase that participates in crucial biological processes including tumor suppression, cell growth/differentiation and regulation of steroid metabolism, while its role in neural development is less understood. We analyzed the exomes of a family affected with multiple pre- and postnatal anomalies, including cerebellar vermis hypoplasia, severe neurodevelopmental impairment and refractory epilepsy, and identified a segregating homozygous WWOX mutation leading to a premature stop codon. Abnormal cerebral cortex development due to a defective architecture of granular and molecular cell layers was found in the developing brain of a WWOX-deficient human fetus from this family. A similar disorganization of cortical layers was identified in lde/lde rats (carrying a homozygous truncating mutation which disrupts the active Wwox C-terminal domain) investigated at perinatal stages. Transcriptomic analyses of Wwox-depleted human neural progenitor cells showed an impaired expression of a number of neuronal migration-related genes encoding for tubulins, kinesins and associated proteins. These findings indicate that loss of Wwox may affect different cytoskeleton components and alter prenatal cortical development, highlighting a regulatory role of the WWOX gene in migrating neurons across different species." @default.
• W3034374417 created "2020-06-19" @default.
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• W3034374417 date "2020-06-11" @default.
• W3034374417 modified "2023-10-10" @default.
• W3034374417 title "Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development" @default.
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• W3034374417 doi "https://doi.org/10.3389/fnins.2020.00644" @default.
• W3034374417 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7300205" @default.
• W3034374417 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32581702" @default.
• W3034374417 hasPublicationYear "2020" @default.
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