Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly

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.

Podrobná bibliografie

Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Nature Portfolio 2022-01-01
Edice:	Nature Communications
On-line přístup:	https://doi.org/10.1038/s41467-021-27705-7
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