Article
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.
PLoS genetics - 1 Mar 2016
Kadir Rotem, Harel Tamar, Markus Barak, Perez Yonatan, Bakhrat Anna, Cohen Idan, Volodarsky Michael, Feintsein-Linial Miora, Chervinski Elana, Zlotogora Joel, Sivan Sara, Birnbaum Ramon Y, Abdu Uri, Shalev Stavit, Birk Ohad S
Abstract excerpt
Primary microcephaly is a congenital neurodevelopmental disorder of reduced head circumference and brain volume, with fewer neurons in the cortex of the developing brain due to premature transition between symmetrical and asymmetrical cellular division of the neuronal stem cell layer during neurogenesis. We now show through linkage analysis and whole exome sequencing, that a dominant mutation in ALFY, encoding an...
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