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...
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2011 (v1)Journal articleUploaded on: December 3, 2022
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2007 (v1)Journal article
In this study, we devised a cysteine-focused point mutation analysis of the chloride channel function of trout anion exchanger 1 (tAE1) expressed in X. laevis oocytes. Seven cysteines, belonging to the transmembrane domain of tAE1, were mutated into serines (either individually or in groups) and the effects of these mutations on the chloride...
Uploaded on: December 4, 2022 -
March 15, 2010 (v1)Journal article
dRTA (distal renal tubular acidosis) and HS (hereditary spherocytosis) are two diseases that can be caused by mutations in the gene encoding the AE1 (anion exchanger 1; Band 3). dRTA is characterized by defective urinary acidification, leading to metabolic acidosis, renal stones and failure to thrive. HS results in anaemia, which may require...
Uploaded on: December 3, 2022 -
August 5, 2011 (v1)Journal article
International audience
Uploaded on: December 4, 2022 -
June 16, 2011 (v1)Journal article
Sigma-1 receptor (Sig1R) is a 25-kDa protein structurally unrelated to other mammalian proteins. Sig1R is present in brain, liver, and heart and is overexpressed in cancer cells. Studies using exogenous sigma ligands have shown that Sig1R interact with a variety of ion channels, but its intrinsic function and mechanism of action remain unclear....
Uploaded on: December 4, 2022 -
June 16, 2011 (v1)Journal article
Sigma-1 receptor (Sig1R) is a 25-kDa protein structurally unrelated to other mammalian proteins. Sig1R is present in brain, liver, and heart and is overexpressed in cancer cells. Studies using exogenous sigma ligands have shown that Sig1R interact with a variety of ion channels, but its intrinsic function and mechanism of action remain unclear....
Uploaded on: December 3, 2022 -
June 16, 2011 (v1)Journal article
Sigma-1 receptor (Sig1R) is a 25-kDa protein structurally unrelated to other mammalian proteins. Sig1R is present in brain, liver, and heart and is overexpressed in cancer cells. Studies using exogenous sigma ligands have shown that Sig1R interact with a variety of ion channels, but its intrinsic function and mechanism of action remain unclear....
Uploaded on: February 22, 2023 -
April 18, 2017 (v1)Journal article
International audience
Uploaded on: December 4, 2022 -
2006 (v1)Journal article
In this study, we have shown that, when expressed in Xenopus oocytes, trout anion exchanger 1 (tAE1) was able to act as a bifunctional protein, either an anion exchanger or a chloride conductance. Point mutations of tAE1 were carried out and their effect on Cl À conductance and Cl À unidirectional flux were studied. We have shown that mutations...
Uploaded on: December 4, 2022 -
2023 (v1)Journal article
Objective Intercellular communication within pancreatic ductal adenocarcinoma (PDAC) dramatically contributes to metastatic processes. The underlying mechanisms are poorly understood, resulting in a lack of targeted therapy to counteract stromal-induced cancer cell aggressiveness. Here, we investigated whether ion channels, which remain...
Uploaded on: November 25, 2023 -
December 8, 2015 (v1)Journal article
International audience
Uploaded on: February 28, 2023