Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function

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 o...

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Detalles Bibliográficos
Autores principales: Sandlers, Yana, Mercier, Kelly, Pathmasiri, Wimal, Carlson, Jim, McRitchie, Susan, Sumner, Susan, Vernon, Hilary J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807847/
https://www.ncbi.nlm.nih.gov/pubmed/27015085
http://dx.doi.org/10.1371/journal.pone.0151802

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807847/
https://www.ncbi.nlm.nih.gov/pubmed/27015085
http://dx.doi.org/10.1371/journal.pone.0151802

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