TY  - GEN
T1  - An autism-associated calcium channel variant causes defects in neuronal polarity in the ALM neuron of C. elegans
AU  - Buddell, Tyler
AU  - Quinn, Christopher C
DO  - 10.17912/micropub.biology.000378
UR  - http://beta.micropublication.org/journals/biology/micropub-biology-000378/
AB  - The egl-19 gene in C. elegans encodes the pore forming subunit for the L-type voltage gated calcium channel that is homologous to the CACNA1C gene in humans (Lee et al., 1997). Variants in CACNA1C are risk factors for autism and other neurodevelopmental disorders (Li et al., 2015; Lu et al., 2012; Strom, et al., 2010). Timothy syndrome is a syndromic form of autism that can be caused by either of three rare de novo mutations in CACNA1C. These mutations cause either a G402R, G402S or G406R mutation in the CACNA1C protein (Splawski et al., 2004; Bader et al., 2011). Our previous work demonstrated that PLM axon termination is disrupted by mutations equivalent to the G402R and G406R mutations in CACNA1C (Buddell et al., 2019). Our study also revealed behavioral defects in these mutant worms. Although the anatomical basis for these behavioral defects has not been determined, it is likely that they are caused by multiple defects within the mechanosensory system.
PY  - 2021
JO  - microPublication Biology
ER  -