Article
The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system.
Disease models & mechanisms - 1 May 2017
Chaverra Marta, George Lynn, Mergy Marc, Waller Hannah, Kujawa Katharine, Murnion Connor, Sharples Ezekiel, Thorne Julian, Podgajny Nathaniel, Grindeland Andrea, Ueki Yumi, Eiger Steven, Cusick Cassie, Babcock A Michael, Carlson George A, Lefcort Frances
Abstract excerpt
Hereditary sensory and autonomic neuropathies (HSANs) are a genetically and clinically diverse group of disorders defined by peripheral nervous system (PNS) dysfunction. HSAN type III, known as familial dysautonomia (FD), results from a single base mutation in the gene IKBKAP that encodes a scaffolding unit (ELP1) for a multi-subunit complex known as Elongator. Since mutations in other Elongator subunits (ELP2 to...
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