Ontology highlight
ABSTRACT:
SUBMITTER: Pollet H
PROVIDER: S-EPMC7465299 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Pollet Hélène H Cloos Anne-Sophie AS Stommen Amaury A Vanderroost Juliette J Conrard Louise L Paquot Adrien A Ghodsi Marine M Carquin Mélanie M Léonard Catherine C Guthmann Manuel M Lingurski Maxime M Vermylen Christiane C Killian Theodore T Gatto Laurent L Rider Mark M Pyr Dit Ruys Sébastien S Vertommen Didier D Vikkula Miikka M Brouillard Pascal P Van Der Smissen Patrick P Muccioli Giulio G GG Tyteca Donatienne D
Biomolecules 20200729 8
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 exclusively expressing the Pro260 variant of SPTA1 and her mother (pElm), heterozygous for this mutation. At the molecular level, the pEI RBC proteome was globally preserved but spectrin density at cell ed ...[more]