Timothy syndrome iPSC modeling
Author:
Funder
New York State Stem Cell Science
Publisher
Elsevier BV
Subject
Cell Biology,Cellular and Molecular Neuroscience,Molecular Biology
Reference32 articles.
1. Ca(V)1.2 I-II linker structure and Timothy syndrome;Almagor;Channels (Austin),2012
2. Mouse model of Timothy syndrome recapitulates triad of autistic traits;Bader;Proc. Natl. Acad. Sci. U. S. A.,2011
3. The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels;Barrett;Proc. Natl. Acad. Sci. U. S. A.,2008
4. A mouse model of Timothy syndrome: a complex autistic disorder resulting from a point mutation in Cav1.2;Bett;N Am J Med Sci (Boston),2012
5. An autism-causing calcium channel variant functions with selective autophagy to alter axon targeting and behavior;Buddell;PLoS Genet.,2019
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