Gout-causing Q141K mutation in ABCG2 leads to instability of the nucleotide-binding domain and can be corrected with small molecules

The multidrug ATP-binding cassette, subfamily G, 2 (ABCG2) transporter was recently identified as an important human urate transporter, and a common mutation, a Gln to Lys substitution at position 141 (Q141K), was shown to cause hyperuricemia and gout. The nature of the Q141K defect, however, remain...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Woodward, Owen M., Tukaye, Deepali N., Cui, Jinming, Greenwell, Patrick, Constantoulakis, Leeza M., Parker, Benjamin S., Rao, Anjana, Köttgen, Michael, Maloney, Peter C., Guggino, William B.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: National Academy of Sciences 2013
Θέματα:
Biological Sciences
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3612674/
https://ncbi.nlm.nih.gov/pubmed/23493553
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1214530110
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