PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.

• Tác giả: Asan F Abdulkareem, Garrett Allington, Seth L Alper, Daniel G Barson, William Butler, Marina Carlson, Bob S Carter, R Todd Constable, Michael C Crair, Engin Deniz, Evan Dennis, Tyrone DeSpenza, Phan Q Duy, Stephanie A Getz, Ana B W Greenberg, Murat Gunel, Ellen J Hoffman, Jennifer Hong, Sheng Chih Jin, Kristopher T Kahle, Emre Kiziltug, Evelyn M R Lake, Richard P Lifton, Bryan W Luikart, Anna Lynn, Francesca Mandino, Arnaud Marlier, Stephen McGee, Neel H Mehta, Kedous Y Mekbib, Andres Moreno-De-Luca, Pranav Nanda, Carol Nelson-Williams, David O'Connor, Annaliese OuYang, Mackenzi L Prina, Laetitia R Reduron, Benjamin C Reeves, Stephanie M Robert, Mustafa Sahin, Hermela Shimelis, John Shohfi, Amrita Singh, Hannah Smith, Siddharth Srivastava, Lauren K Walsh, Wei Wang, Kellen Winden, Junhui Zhang, Shujuan Zhao
• Ngôn ngữ: eng
• Ký hiệu phân loại: 364.04 Special topics of criminology
• Thông tin xuất bản: United States : Nature neuroscience , 2025
• Bộ sưu tập: NCBI
• ID: 722272

Tóm tắt

Enlargement of the cerebrospinal fluid (CSF)-filled brain ventricles (ventriculomegaly) is a defining feature of congenital hydrocephalus (CH) and an under-recognized concomitant of autism. Here, we show that de novo mutations in the autism risk gene PTEN are among the most frequent monogenic causes of CH and primary ventriculomegaly. Mouse Pten-mutant ventriculomegaly results from aqueductal stenosis due to hyperproliferation of periventricular Nkx2.1