Publications:

Ivacaftor-Mediated Potentiation of ABCB4 Missense Mutations Affecting Critical Motifs of the NBDs: Repositioning Perspectives for Hepatobiliary Diseases.

International Journal Of Molecular Sciences

Delaunay, Jean-Louis JL; Elbahnsi, Ahmad A; Bruneau, Alix A; Madry, Claire C; Durand-Schneider, Anne-Marie AM; Stary, Anne A; Housset, Chantal C; Gautheron, Jérémie J; Callebaut, Isabelle I; Aït-Slimane, Tounsia T

Publication Date: 2023-01-08

Variant appearance in text: ABCB4: E558Q

PubMed Link: 36674751

Variant Present in the following documents:

• Main text
• ijms-24-01236.pdf

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Structures of ABCB4 provide insight into phosphatidylcholine translocation.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Nosol, Kamil K; Bang-Sørensen, Rose R; Irobalieva, Rossitza N RN; Erramilli, Satchal K SK; Stieger, Bruno B; Kossiakoff, Anthony A AA; Locher, Kaspar P KP

Publication Date: 2021-08-17

Variant appearance in text: ABCB4: E558Q

PubMed Link: 34385322

Variant Present in the following documents:

• Main text

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ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population.

Cellular And Molecular Life Sciences : Cmls

Andress, Edward J EJ; Nicolaou, Michael M; McGeoghan, Farrell F; Linton, Kenneth J KJ

Publication Date: 2017-07

Variant appearance in text: ABCB4: E558Q

PubMed Link: 28220208

Variant Present in the following documents:

• Main text
• 18_2017_Article_2472.pdf

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A mutation within the extended X loop abolished substrate-induced ATPase activity of the human liver ATP-binding cassette (ABC) transporter MDR3.

The Journal Of Biological Chemistry

Kluth, Marianne M; Stindt, Jan J; Dröge, Carola C; Linnemann, Doris D; Kubitz, Ralf R; Schmitt, Lutz L

Publication Date: 2015-02-20

Variant appearance in text: MDR3: E558Q

PubMed Link: 25533467

Variant Present in the following documents:

• Main text

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Detergent screening and purification of the human liver ABC transporters BSEP (ABCB11) and MDR3 (ABCB4) expressed in the yeast Pichia pastoris.

Plos One

Ellinger, Philipp P; Kluth, Marianne M; Stindt, Jan J; Smits, Sander H J SH; Schmitt, Lutz L

Publication Date: 2013

Variant appearance in text: MDR3: E558Q

PubMed Link: 23593265

Variant Present in the following documents:

• Main text
• pone.0060620.pdf

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