Molecular defects that affect platelet dense granules

Meral Gunay-Aygun, Marjan Huizing, William A. Gahl

Research output: Contribution to journalReview article

Abstract

Platelet dense granules form using mechanisms shared by melanosomes in melanocytes and by subsets of lysosomes in more generalized cells. Consequently, disorders of platelet dense granules can reveal how organelles form and move within cells. Models for the study of new vesicle formation include isolated δ-storage pool deficiency, combined αδ-storage pool deficiency, Hermansky-Pudlak syndrome (HPS), Chediak-Higashi syndrome, Griscelli syndrome, thrombocytopenia absent radii syndrome, and Wiskott-Aldrich syndrome. The molecular bases of dense granule deficiency are known for the seven subtypes of HPS, as well as for Chediak-Higashi syndrome, Griscelli syndrome, and Wiskott-Aldrich syndrome. The gene products involved in these disorders help elucidate the generalized process of the formation of vesicles from extant membranes such as the Golgi.

Original languageEnglish (US)
Pages (from-to)537-547
Number of pages11
JournalSeminars in Thrombosis and Hemostasis
Volume30
Issue number5
DOIs
StatePublished - Oct 1 2004
Externally publishedYes

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Keywords

  • Hermansky-Pudlak syndrome
  • Intracellular vesicle formation
  • Lysosome-related organelles
  • Platelet dense granules
  • Storage pool deficiency

ASJC Scopus subject areas

  • Hematology
  • Cardiology and Cardiovascular Medicine

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