Article
ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC.
Proceedings of the National Academy of Sciences of the United States of America - 22 Jan 2013
Blankman Jacqueline L, Long Jonathan Z, Trauger Sunia A, Siuzdak Gary, Cravatt Benjamin F
Abstract excerpt
Advances in human genetics are leading to the discovery of new disease-causing mutations at a remarkable rate. Many such mutations, however, occur in genes that encode for proteins of unknown function, which limits our molecular understanding of, and ability to devise treatments for, human disease. Here, we use untargeted metabolomics combined with a genetic mouse model to determine that the poorly characterized...
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