Article
Inactivation of the murine pyruvate dehydrogenase (Pdha1) gene and its effect on early embryonic development.
Molecular genetics and metabolism - 1 Nov 2001
Johnson M T, Mahmood S, Hyatt S L, Yang H S, Soloway P D, Hanson R W, Patel M S
Abstract excerpt
A deficiency of pyruvate dehydrogenase complex (PDC) in humans results in lactic acidosis and neurological dysfunction that frequently results in death during infancy. Using gene targeting technology, a silent mutation was introduced into the murine X-linked Pdha1 gene that encodes the alpha subunit of the pyruvate dehydrogenase or E1 component of the complex. Two loxP sequences were introduced into intronic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.