Article
Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function.
PloS one - 1 Jan 2016
Sandlers Yana, Mercier Kelly, Pathmasiri Wimal, Carlson Jim, McRitchie Susan, Sumner Susan, Vernon Hilary J
Abstract excerpt
Barth Syndrome is the only known Mendelian disorder of cardiolipin remodeling, with characteristic clinical features of cardiomyopathy, skeletal myopathy, and neutropenia. While the primary biochemical defects of reduced mature cardiolipin and increased monolysocardiolipin are well-described, much of the downstream biochemical dysregulation has not been uncovered, and biomarkers are limited. In order to further...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.