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Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

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 result in the severe skin disorder erythrokeratodermia...

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Detalles Bibliográficos
Autores principales:	Bariana, Tadbir K., Labarque, Veerle, Heremans, Jessica, Thys, Chantal, De Reys, Mara, Greene, Daniel, Jenkins, Benjamin, Grassi, Luigi, Seyres, Denis, Burden, Frances, Whitehorn, Deborah, Shamardina, Olga, Papadia, Sofia, Gomez, Keith, BioResource, NIHR, Van Geet, Chris, Koulman, Albert, Ouwehand, Willem H., Ghevaert, Cedric, Frontini, Mattia, Turro, Ernest, Freson, Kathleen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Ferrata Storti Foundation 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6518879/ https://www.ncbi.nlm.nih.gov/pubmed/30467204 http://dx.doi.org/10.3324/haematol.2018.204784

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