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Article

The Importance of Alpha-Actinin Proteins in Platelet Formation and Function, and Their Causative Role in Congenital Macrothrombocytopenia.

International journal of molecular sciences - 29 Aug 2021

O'Sullivan Leanne R, Cahill Mary R, Young Paul W

Abstract excerpt

The actin cytoskeleton plays a central role in platelet formation and function. Alpha-actinins (actinins) are actin filament crosslinking proteins that are prominently expressed in platelets and have been studied in relation to their role in platelet activation since the 1970s. However, within the past decade, several groups have described mutations in ACTN1/actinin-1 that cause congenital macrothrombocytopenia...

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Identifiers

PMID: 34502272
DOI: 10.3390/ijms22179363
PMCID: PMC8431150

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