Article
NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome.
Disease models & mechanisms - 1 Jun 2023
Bonzano Sara, Dallorto Eleonora, Molineris Ivan, Michelon Filippo, Crisci Isabella, Gambarotta Giovanna, Neri Francesco, Oliviero Salvatore, Beckervordersandforth Ruth, Lie Dieter Chichung, Peretto Paolo, Bovetti Serena, Studer Michèle, De Marchis Silvia
Abstract excerpt
The nuclear receptor NR2F1 acts as a strong transcriptional regulator in embryonic and postnatal neural cells. In humans, mutations in the NR2F1 gene cause Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), a rare neurodevelopmental disorder characterized by multiple clinical features including vision impairment, intellectual disability and autistic traits. In this study, we identified, by genome-wide and in...
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