Article
Inhibition of calpain increases LIS1 expression and partially rescues in vivo phenotypes in a mouse model of lissencephaly.
Nature medicine - 1 Oct 2009
Yamada Masami, Yoshida Yuko, Mori Daisuke, Takitoh Takako, Kengaku Mineko, Umeshima Hiroki, Takao Keizo, Miyakawa Tsuyoshi, Sato Makoto, Sorimachi Hiroyuki, Wynshaw-Boris Anthony, Hirotsune Shinji
Abstract excerpt
Lissencephaly is a devastating neurological disorder caused by defective neuronal migration. LIS1 (official symbol PAFAH1B1, for platelet-activating factor acetylhydrolase, isoform 1b, subunit 1) was identified as the gene mutated in individuals with lissencephaly, and it was found to regulate cy...
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