Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway[S]

Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway[S]

The de novo ceramide synthesis pathway is essential to human biology and health, but genetic influences remain unexplored. The core function of this pathway is the generation of biologically active ceramide from its precursor, dihydroceramide. Dihydroceramides have diverse, often protective, biologi...

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Bibliographic Details
Main Authors: Nicholas B. Blackburn, Laura F. Michael, Peter J. Meikle, Juan M. Peralta, Marian Mosior, Scott McAhren, Hai H. Bui, Melissa A. Bellinger, Corey Giles, Satish Kumar, Ana C. Leandro, Marcio Almeida, Jacquelyn M. Weir, Michael C. Mahaney, Thomas D. Dyer, Laura Almasy, John L. VandeBerg, Sarah Williams-Blangero, David C. Glahn, Ravindranath Duggirala, Mark Kowala, John Blangero, Joanne E. Curran
Format: Article
Language:English
Published: Elsevier 2019-09-01
Series:Journal of Lipid Research
Subjects:
lipidomics
sphingolipids
genomics
genetics
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520323245

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http://www.sciencedirect.com/science/article/pii/S0022227520323245

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