Article
Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.
Neurobiology of disease - 1 Sept 2023
Montillot Charlotte, Skutunova Emilia, Ayushma, Dubied Morgane, Lahmar Adam, Nguyen Sylvie, Peerally Benazir, Prin Fabrice, Duffourd Yannis, Thauvin-Robinet Christel, Duplomb Laurence, Wang Heng, Ansar Muhammad, Faivre Laurence, Navarro Nicolas, Minocha Shilpi, Collins Stephan C, Yalcin Binnaz
Abstract excerpt
The vacuolar protein sorting-associated protein 13B (VPS13B) is a large and highly conserved protein. Disruption of VPS13B causes the autosomal recessive Cohen syndrome, a rare disorder characterized by microcephaly and intellectual disability among other features, including developmental delay, hypotonia, and friendly-personality. However, the underlying mechanisms by which VPS13B disruption leads to brain...
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