about
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cellsMyosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directlyLoss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration.Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression.A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Benjamin Delprat
@ast
Benjamin Delprat
@en
Benjamin Delprat
@es
Benjamin Delprat
@nl
type
label
Benjamin Delprat
@ast
Benjamin Delprat
@en
Benjamin Delprat
@es
Benjamin Delprat
@nl
prefLabel
Benjamin Delprat
@ast
Benjamin Delprat
@en
Benjamin Delprat
@es
Benjamin Delprat
@nl
P106
P31
P496
0000-0002-2457-6923