Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly

Autor: 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
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
Druh dokumentu: article
ISSN: 2041-1723
DOI: 10.1038/s41467-021-27705-7
Popis: 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.
Databáze: Directory of Open Access Journals
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