id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_okhrvnfzwvandlqn3c7l57r6su	Nataliya Di Donato	Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant	2016	13	.pdf	application/pdf	11497	2007	53	Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant RAIDD) is a death-domain-containing adaptor protein that oligomerizes with PIDD and caspase-2 to initiate apoptosis. TLIS-associated CRADD variants do not disrupt interactions with caspase-2 or PIDD in co-immunoprecipitation assays, but still abolish CRADD's ability to activate caspase-2, resulting in reduced neuronal apoptosis in vitro. programmed cell death from loss of CRADD function in humans implicate reduced apoptosis as an important pathophysiological mechanism of cortical malformation. Here we show that the human CRADD variants associated with TLIS abrogate CRADD's ability to activate caspase-2 and drive neuronal apoptosis. CRADD-TLIS variants can induce caspase-2 activation. apoptosis through caspase-2 activation in the CRADDTLIS variants in vitro suggest that the cortical malformation in CRADD-TLIS more likely results from reduced CRADD TLIS Variants Do Not Activate Caspase-2 CRADD TLIS Variants Do Not Activate Caspase-2 CRADD TLIS Variants Do Not Activate Caspase-2	./cache/work_okhrvnfzwvandlqn3c7l57r6su.pdf	./txt/work_okhrvnfzwvandlqn3c7l57r6su.txt