[HTML][HTML] Combined quantification of the global proteome, phosphoproteome, and proteolytic cleavage to characterize altered platelet functions in the human Scott …

FA Solari, NJA Mattheij, JM Burkhart… - Molecular & Cellular …, 2016 - ASBMB
The Scott syndrome is a very rare and likely underdiagnosed bleeding disorder associated
with mutations in the gene encoding anoctamin-6. Platelets from Scott patients are impaired
in various Ca 2+-dependent responses, including phosphatidylserine exposure, integrin
closure, intracellular protein cleavage, and cytoskeleton-dependent morphological changes.
Given the central role of anoctamin-6 in the platelet procoagulant response, we used
quantitative proteomics to understand the underlying molecular mechanisms and the …