Publications by authors named "Lorena Diaz-Ajenjo"
Article Synopsis
- Protein glycosylation, particularly sialylation, is essential for various biological processes, especially in normal blood cell production (hematopoiesis).
- The modification of proteins with carbohydrate residues helps regulate platelet production and clearance, influencing their lifespan in the bloodstream (8-11 days).
- Recent discoveries have identified numerous genetic disorders linked to glycosylation defects, resulting in symptoms like severe thrombocytopenia and bleeding complications.
Glycosylation is recognized as a key process for proper megakaryopoiesis and platelet formation. The enzyme uridine diphosphate (UDP)-galactose-4-epimerase, encoded by GALE, is involved in galactose metabolism and protein glycosylation. Here, we studied 3 patients from 2 unrelated families who showed lifelong severe thrombocytopenia, bleeding diathesis, mental retardation, mitral valve prolapse, and jaundice.
View Article and Find Full Text PDFBackground: Rare inherited thrombocytopenias are caused by alterations in genes involved in megakaryopoiesis, thrombopoiesis and/or platelet release. Diagnosis is challenging due to poor specificity of platelet laboratory assays, large numbers of culprit genes, and difficult assessment of the pathogenicity of novel variants.
Objectives: To characterize the clinical and laboratory phenotype, and identifying the underlying molecular alteration, in a pedigree with thrombocytopenia of uncertain etiology.