Aberrant Membrane Composition and Biophysical Properties Impair Erythrocyte Morphology and Functionality in Elliptocytosis

Red blood cell (RBC) deformability is altered in inherited RBC disorders but the mechanism behind this is poorly understood. Here, we explored the molecular, biophysical, morphological, and functional consequences of α-spectrin mutations in a patient with hereditary elliptocytosis (pEl) almost exclu...

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Main Authors: Hélène Pollet, Anne-Sophie Cloos, Amaury Stommen, Juliette Vanderroost, Louise Conrard, Adrien Paquot, Marine Ghodsi, Mélanie Carquin, Catherine Léonard, Manuel Guthmann, Maxime Lingurski, Christiane Vermylen, Theodore Killian, Laurent Gatto, Mark Rider, Sébastien Pyr dit Ruys, Didier Vertommen, Miikka Vikkula, Pascal Brouillard, Patrick Van Der Smissen, Giulio G. Muccioli, Donatienne Tyteca
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:Biomolecules
Subjects:
Online Access:https://www.mdpi.com/2218-273X/10/8/1120