Investigation of calmodulin‐like and rod domain mutations suggests common molecular mechanism for α‐actinin‐1‐linked congenital macrothrombocytopenia

Actinin‐1 mutations cause dominantly inherited congenital macrothrombocytopenia (CMTP), with mutations in the actin‐binding domain increasing actinin's affinity for F‐actin. In this study, we examined nine CMTP‐causing mutations in the calmodulin‐like and rod domains of actinin‐1. These mutatio...

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Veröffentlicht in:	FEBS letters 2020-01, Vol.594 (1), p.161-174
Hauptverfasser:	O'Sullivan, Leanne Rose, Ajaykumar, Amarendra Praburam, Dembicka, Kornelia Maria, Murphy, Aidan, Grennan, Eamonn Paul, Young, Paul William
Format:	Artikel
Sprache:	eng
Schlagworte:	actinin‐1 ACTN1 alpha‐actinin congenital macrothrombocytopenia macrothrombocytopenia α‐actinin
Online-Zugang:	Volltext
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