Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly
oleh: Jacopo A. Carpentieri, Amandine Di Cicco, Marusa Lampic, David Andreau, Laurence Del Maestro, Fatima El Marjou, Laure Coquand, Nadia Bahi-Buisson, Jean-Baptiste Brault, Alexandre D. Baffet
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2022-01-01 |
Deskripsi
Mutations in the human WDR81 gene result in severe microcephaly. Carpentieri et al. show that mutation of WDR81, a gene coding for an endosomal regulator, alters intracellular processing of the EGF receptor, leading to reduced proliferation rates of neuronal progenitors and to microcephaly.