Functional studies of deafness-associated pendrin and prestin variants
S Takahashi, T Kojima, K Wasano… - International Journal of …, 2024 - mdpi.com
Pendrin and prestin are evolutionary-conserved membrane proteins that are essential for
normal hearing. Dysfunction of these proteins results in hearing loss in humans, and …
normal hearing. Dysfunction of these proteins results in hearing loss in humans, and …
Reduction of cellular expression levels is a common feature of functionally affected pendrin (SLC26A4) protein variants
VCS de Moraes, E Bernardinelli, N Zocal… - Molecular …, 2016 - Springer
Sequence alterations in the pendrin gene (SLC26A4) leading to functionally affected protein
variants are frequently involved in the pathogenesis of syndromic and nonsyndromic …
variants are frequently involved in the pathogenesis of syndromic and nonsyndromic …
The pathogenic roles of the p. R130S prestin variant in DFNB61 hearing loss
S Takahashi, Y Zhou, MA Cheatham… - The Journal of …, 2024 - Wiley Online Library
DFNB61 is a recessively inherited nonsyndromic hearing loss caused by mutations in
SLC26A5, the gene that encodes the voltage‐driven motor protein, prestin. Prestin is …
SLC26A5, the gene that encodes the voltage‐driven motor protein, prestin. Prestin is …
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss
XZ Liu, XM Ouyang, XJ Xia, J Zheng… - Human molecular …, 2003 - academic.oup.com
Prestin, a membrane protein that is highly and almost exclusively expressed in the outer hair
cells (OHCs) of the cochlea, is a motor protein which senses membrane potential and drives …
cells (OHCs) of the cochlea, is a motor protein which senses membrane potential and drives …
High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing …
HY Tang, A Xia, JS Oghalai, FA Pereira… - BMC Medical Genetics, 2005 - Springer
Background Cochlear outer hair cells change their length in response to variations in
membrane potential. This capability, called electromotility, is believed to enable the …
membrane potential. This capability, called electromotility, is believed to enable the …
The roles of conserved and nonconserved cysteinyl residues in the oligomerization and function of mammalian prestin
B Currall, D Rossino… - Journal of …, 2011 - journals.physiology.org
The creation of several prestin knockout and knockin mouse lines has demonstrated the
importance of the intrinsic outer hair cell membrane protein prestin to mammalian hearing …
importance of the intrinsic outer hair cell membrane protein prestin to mammalian hearing …
Essential helix interactions in the anion transporter domain of prestin revealed by evolutionary trace analysis
L Rajagopalan, N Patel, S Madabushi… - Journal of …, 2006 - Soc Neuroscience
Prestin, a member of the SLC26A family of anion transporters, is a polytopic membrane
protein found in outer hair cells (OHCs) of the mammalian cochlea. Prestin is an essential …
protein found in outer hair cells (OHCs) of the mammalian cochlea. Prestin is an essential …
The R130S mutation significantly affects the function of prestin, the outer hair cell motor protein
S Takahashi, MA Cheatham, J Zheng… - Journal of Molecular …, 2016 - Springer
Abstract A missense mutation, R130S, was recently found in the prestin gene, SLC26A5, of
patients with moderate to severe hearing loss (DFNB61). In order to define the pathology of …
patients with moderate to severe hearing loss (DFNB61). In order to define the pathology of …
Engineered pendrin protein, an anion transporter and molecular motor
Pendrin and prestin both belong to a distinct anion transporter family called solute carrier
protein 26A, or SLC26A. Pendrin (SLC26A4) is a chloride-iodide transporter that is found at …
protein 26A, or SLC26A. Pendrin (SLC26A4) is a chloride-iodide transporter that is found at …