Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction

The ABCB4 gene encodes for MDR3, a protein that translocates phosphatidylcholine from the inner to the outer leaflet of the hepatocanalicular membrane; its deficiency favors the formation of ‘toxic bile'. Several forms of hepatobiliary diseases have been associated with ABCB4 mutations, but the...

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Hlavní autoři: Degiorgio, Dario, Corsetto, Paola A, Rizzo, Angela M, Colombo, Carla, Seia, Manuela, Costantino, Lucy, Montorfano, Gigliola, Tomaiuolo, Rossella, Bordo, Domenico, Sansanelli, Serena, Li, Min, Tavian, Daniela, Rastaldi, Maria P, Coviello, Domenico A
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3992575/
https://ncbi.nlm.nih.gov/pubmed/24045840
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.214
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