Article
Functional Recovery of AQP2 Recessive Mutations Through Hetero-Oligomerization with Wild-Type Counterpart.
Scientific reports - 19 Sept 2016
El Tarazi Abdulah, Lussier Yoann, Da Cal Sandra, Bissonnette Pierre, Bichet Daniel G
Abstract excerpt
Aquaporin-2 (AQP2) is a homotetrameric water channel responsible for the final water reuptake in the kidney. Mutations in the protein induce nephrogenic diabetes insipidus (NDI), which challenges the water balance by producing large urinary volumes. Although recessive AQP2 mutations are believed to generate non-functional and monomeric proteins, the literature identifies several mild mutations which suggest the...
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