P2X2 Dominant Deafness Mutations Have No Negative Effect on Wild-Type Isoform: Implications for Functional Rescue and in Deafness Mechanism

P2X2 Dominant Deafness Mutations Have No Negative Effect on Wild-Type Isoform: Implications for Functional Rescue and in Deafness Mechanism

The P2X2 receptor is an ATP-gated ion channel, assembled by three subunits. Recently, it has been found that heterozygous mutations of P2X2 V60L and G353R can cause autosomal dominant nonsyndromic hearing loss. However, the underlying mechanism remains unclear. The fact that heterozygous mutations c...

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Bibliographic Details
Main Authors: Yan Zhu, Juline Beudez, Ning Yu, Thomas Grutter, Hong-Bo Zhao
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-11-01
Series:Frontiers in Molecular Neuroscience
Subjects:
P2X2 receptor
mutation
deafness
dominant negative effect
functional restoration
ATP
Online Access:http://journal.frontiersin.org/article/10.3389/fnmol.2017.00371/full

Internet

http://journal.frontiersin.org/article/10.3389/fnmol.2017.00371/full

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