ABCB1 p.Asp805Asn
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PMID: 24064216
[PubMed]
Kapoor K et al: "Mutations in intracellular loops 1 and 3 lead to misfolding of human P-glycoprotein (ABCB1) that can be rescued by cyclosporine A, which reduces its association with chaperone Hsp70."
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Sentence
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313
We also substituted these two aspartates paired with either Ala (D164A/D805A) or Asn (D164N/D805N) and observed lower cell surface expression in both cases.
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ABCB1 p.Asp805Asn 24064216:313:92
status: NEW314 Single substitution of Asp-164 with Ala (D164A) or Asn (D164N) led to similar expression and function as D164C.3 The substitution of Asp-805 with Ala (D805A) or Asn (D805N) is less drastic as compared with D805C, but the protein still does not localize to the cell surface.3 All these substitutions with either Ala or Asn could be rescued to the cell surface in the presence of CsA (data not shown).
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ABCB1 p.Asp805Asn 24064216:314:166
status: NEW