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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Vydáno v:Biomolecules
Hlavní autoři: Pollet, Hélène, Cloos, Anne-Sophie, Stommen, Amaury, Vanderroost, Juliette, Conrard, Louise, Paquot, Adrien, Ghodsi, Marine, Carquin, Mélanie, Léonard, Catherine, Guthmann, Manuel, Lingurski, Maxime, Vermylen, Christiane, Killian, Theodore, Gatto, Laurent, Rider, Mark, Pyr dit Ruys, Sébastien, Vertommen, Didier, Vikkula, Miikka, Brouillard, Pascal, Van Der Smissen, Patrick, Muccioli, Giulio G., Tyteca, Donatienne
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2020
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7465299/
https://ncbi.nlm.nih.gov/pubmed/32751168
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/biom10081120
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