Article
Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy.
Human molecular genetics - 4 Jun 2022
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
Abstract excerpt
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 diverse XLAG and DEE1 phenotypes may converge on shared pathways. To address this question, a label-free quantitative...
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