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Dr. Vance's research focuses on understanding the mechanisms of intracellular lipid trafficking in mammalian cells. She identified a region of the endoplasmic reticulum, designated mitochondria-associated membranes (MAM), which forms contact sites with mitochondrial outer membranes. These contact zones are required for the regulation of calcium homeostasis as well as the import of phosphatidylserine (PS) into mitochondria for decarboxylation to phosphatidylethanolamine (PE) via PS decarboxylase (PSD). Her lab has generated and characterized mice lacking either of the two PS synthases, and mice lacking PSD in which mitochondrial function was severely impaired. Moreover, reduction of PSD expression in cultured cells reduced mitochondrial PE content and markedly reduced mitochondrial functions, demonstrating the importance of a threshold level of PE in mitochondria for normal mitochondrial function. In addition Dr. Vance was a major contributor to a study in which mutations in PS synthase-1 were shown to cause Lenz-Majewski syndrome, a severe developmental disorder. In fibroblasts from these patients, mutations in PS synthase-1 induced a gain-of-function phenotype due to profound attenuation of end-product inhibition of PS synthesis.
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Science Advancesno. 9 (2019)
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