RRP7A links primary microcephaly to radial glial cells and dysfunction of ribosomal biogenesis, neurogenesis and ciliary resorption
Muhammad Farooq, Louise Lindbæk, Nicolai Krogh, Canan Doğanlı, Cecilie Keller, Maren Mönnich, Srinivasan Sakthivel, Yuan Mang, Ambrin Fatima, Vivi Søgaard Andersen, Muhammad Sajid Hussain, Hans Eiberg, Lars Hestbjerg Hansen, Klaus Wilbrandt Kjaer, Jay Gopalakrishnan, , Lars Allan Larsen
This study identifies a mutation in RRP7A linked to primary microcephaly, showing its role in neurogenesis, ribosomal biogenesis, and ciliary resorption in neural stem cells.
bioRxiv · Oct 10, 2019 · PreprintNeuroscience