Article
Induced pluripotent stem cell modeling of multisystemic, hereditary transthyretin amyloidosis.
Stem cell reports - 1 Jan 2013
Leung Amy, Nah Shirley K, Reid Whitney, Ebata Atsushi, Koch Clarissa M, Monti Stefano, Genereux Joseph C, Wiseman R Luke, Wolozin Benjamin, Connors Lawreen H, Berk John L, Seldin David C, Mostoslavsky Gustavo, Kotton Darrell N, Murphy George J
Abstract excerpt
Familial transthyretin amyloidosis (ATTR) is an autosomal-dominant protein-folding disorder caused by over 100 distinct mutations in the transthyretin (TTR) gene. In ATTR, protein secreted from the liver aggregates and forms fibrils in target organs, chiefly the heart and peripheral nervous system, highlighting the need for a model capable of recapitulating the multisystem complexity of this clinically variable...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.