Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected

Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected

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, hyp...

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Bibliographic Details
Main Authors: Charlotte Montillot, Emilia Skutunova, Ayushma, Morgane Dubied, Adam Lahmar, Sylvie Nguyen, Benazir Peerally, Fabrice Prin, Yannis Duffourd, Christel Thauvin-Robinet, Laurence Duplomb, Heng Wang, Muhammad Ansar, Laurence Faivre, Nicolas Navarro, Shilpi Minocha, Stephan C. Collins, Binnaz Yalcin
Format: Article
Language:English
Published: Elsevier 2023-09-01
Series:Neurobiology of Disease
Subjects:
Brain neuroanatomical phenotyping
Cohen syndrome
Mouse mutants
Neurodegeneration
VPS13B
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996123002747

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http://www.sciencedirect.com/science/article/pii/S0969996123002747

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