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Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy

X-linked lissencephaly with abnormal genitalia (XLAG) and developmental epileptic encephalopathy-1 (DEE1) are caused by mutations in the Aristaless-related homeobox (ARX) gene, which encodes a transcription factor responsible for brain development. It has been unknown whether the phenotypically dive...

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Detalles Bibliográficos
Autores principales: Drongitis, Denise, Caterino, Marianna, Verrillo, Lucia, Santonicola, Pamela, Costanzo, Michele, Poeta, Loredana, Attianese, Benedetta, Barra, Adriano, Terrone, Gaetano, Lioi, Maria Brigida, Paladino, Simona, Di Schiavi, Elia, Costa, Valerio, Ruoppolo, Margherita, Miano, Maria Giuseppina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9169459/
https://www.ncbi.nlm.nih.gov/pubmed/35094084
http://dx.doi.org/10.1093/hmg/ddac028