De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

Alternative splicing (AS) is crucial for cell‐type‐specific gene transcription and plays a critical role in neuronal differentiation and synaptic plasticity. De novo frameshift variants in NOVA2, encoding a neuron‐specific key splicing factor, have been recently associated with a new neurodevelopmen...

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Detalles Bibliográficos
Autores principales: Scala, Marcello, Drouot, Nathalie, MacLennan, Suzanna C., Wessels, Marja W., Krygier, Magdalena, Pavinato, Lisa, Telegrafi, Aida, de Man, Stella A., van Slegtenhorst, Marjon, Iacomino, Michele, Madia, Francesca, Scudieri, Paolo, Uva, Paolo, Giacomini, Thea, Nobile, Giulia, Mancardi, Maria Margherita, Balagura, Ganna, Galloni, Giovanni Battista, Verrotti, Alberto, Umair, Muhammad, Khan, Amjad, Liebelt, Jan, Schmidts, Miriam, Langer, Thorsten, Brusco, Alfredo, Lipska‐Ziętkiewicz, Beata S., Saris, Jasper J., Charlet‐Berguerand, Nicolas, Zara, Federico, Striano, Pasquale, Piton, Amélie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9543825/
https://www.ncbi.nlm.nih.gov/pubmed/35607920
http://dx.doi.org/10.1002/humu.24414

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9543825/
https://www.ncbi.nlm.nih.gov/pubmed/35607920
http://dx.doi.org/10.1002/humu.24414

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