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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Publicado no:Haematologica
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6518879/
https://ncbi.nlm.nih.gov/pubmed/30467204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2018.204784
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