Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia
(2018)
Journal Article
Turro, E., Bariana, T. K., Gomez, K., Labarque, V., Heremans, J., Whitehorn, D., Thys, C., NIHR BioResource, De Reys, M., Freson, K., Greene, D., Frontini, M., Jenkins, B., Ghevaert, C., Grassi, L., Ouwehand, W. H., Seyres, D., Koulman, A., Burden, F., Van Geet, C., …Shamardina, O. (2018). Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia. Haematologica, 104(4), haematol.2018.204784. https://doi.org/10.3324/haematol.2018.204784
Sphingolipids are fundamental to membrane trafficking, apoptosis and cell differentiation and proliferation. KDSR or 3-keto-dihydrosphingosine reductase is an essential enzyme for de novo sphingolipid synthesis, and pathogenic mutations in KDSR resul... Read More about Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.