NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome

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...

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Detalles Bibliográficos
Autores principales: 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, Marchis, Silvia De
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10309583/
https://www.ncbi.nlm.nih.gov/pubmed/37260288
http://dx.doi.org/10.1242/dmm.049854

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10309583/
https://www.ncbi.nlm.nih.gov/pubmed/37260288
http://dx.doi.org/10.1242/dmm.049854

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