title: Band 3 missense mutations and stomatocytosis: insight into the molecular mechanism responsible for monovalent cation leak.
abstract: Missense mutations in the erythroid band 3 protein (Anion Exchanger 1) have been associated with hereditary stomatocytosis. Features of cation leaky red cells combined with functional expression of the mutated protein led to the conclusion that the AE1 point mutations were responsible for Na(+) and K(+) leak through a conductive mechanism. A molecular mechanism explaining mutated AE1-linked stomatocytosis involves changes in AE1 transport properties that become leaky to Na(+) and K(+). However, another explanation suggests that point-mutated AE1 could regulate a cation leak through other transporters. This short paper intends to discuss these two alternatives.
authors.affiliation: Institut de Biologie du Développement et Cancer, UMR6543, CNRS, 28 Avenue Valrose, 06108 Nice Cedex 2, France.
authors.forename: Damien
authors.initials: D
authors.lastname: Barneaud-Rocca
authors.forename: Bernard
authors.initials: B
authors.lastname: Pellissier
authors.forename: Franck
authors.initials: F
authors.lastname: Borgese
authors.forename: Hélène
authors.initials: H
authors.lastname: Guizouarn