The Warburg micro syndrome protein RAB3GAP1 modulates neuronal morphogenesis and interacts with axon elongation end ER-Golgi trafficking factors

The Warburg micro syndrome protein RAB3GAP1 modulates neuronal morphogenesis and interacts with axon elongation end ER-Golgi trafficking factors

RAB3GAP1 is GTPase activating protein localized to the ER and Golgi compartments. In humans, mutations in RAB3GAP1 are the most common cause of Warburg Micro syndrome, a neurodevelopmental disorder associated with intellectual disability, microcephaly, and agenesis of the corpus callosum. We found t...

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Bibliographic Details
Main Authors: Pankaj S. Ghate, Janay M. Vacharasin, Joseph A. Ward, Duncan Nowling, Valerie Kay, Mara H. Cowen, Mary-Kate Lawlor, Mikayla McCord, Hailey Xu, Esteban Carmona, Seon-Hye Cheon, Evelyn Chukwurah, Mike Walla, Sofia B. Lizarraga
Format: Article
Language:English
Published: Elsevier 2023-08-01
Series:Neurobiology of Disease
Subjects:
RAB3GAP1
DOCK7
TMF1
Human cortical neurons
Stem cells
Warburg Micro syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996123002309

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