Article
Patient-specific mutation of Dync1h1 in mice causes brain and behavioral deficits.
Neurobiology of disease - 1 Sept 2024
Ramos Raddy L, De Heredia Maider Michelena Beltran, Zhang Yongwei, Stout Randy F, Tindi Jaafar O, Wu Liching, Schwartz Gary J, Botbol Yair M, Sidoli Simone, Poojari Ankita, Rakowski-Anderson Tammy, Shafit-Zagardo Bridget
Abstract excerpt
AIMS: Cytoplasmic dynein heavy chain (DYNC1H1) is a multi-subunit protein complex that provides motor force for movement of cargo on microtubules and traffics them back to the soma. In humans, mutations along the DYNC1H1 gene result in intellectual disabilities, cognitive delays, and neurologic and motor deficits. The aim of the study was to generate a mouse model to a newly identified de novo heterozygous...
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