Article
Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies.
Neurogenetics - 1 Oct 2014
Tey Shelisa, Ahmad-Annuar Azlina, Drew Alexander P, Shahrizaila Nortina, Nicholson Garth A, Kennerson Marina L
Abstract excerpt
The cytoplasmic dynein heavy chain (DYNC1H1) gene has been increasingly associated with neurodegenerative disorders including axonal Charcot-Marie-Tooth disease (CMT2), intellectual disability and malformations of cortical development. In addition, evidence from mouse models (Loa, catabolite repressor-activator (Cra) and Sprawling (Swl)) has shown that mutations in Dync1h1 cause a range of neurodegenerative...
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