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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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Gardado en:
Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2019-09-01
Series:Journal of Lipid Research
Assuntos:
lipidomics
sphingolipids
genomics
genetics
Acceso en liña:http://www.sciencedirect.com/science/article/pii/S0022227520323245
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