Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss
K Honda, AJ Griffith - Human genetics, 2022 - Springer
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …
Cryo-EM structures of thermostabilized prestin provide mechanistic insights underlying outer hair cell electromotility
H Futamata, M Fukuda, R Umeda, K Yamashita… - Nature …, 2022 - nature.com
Outer hair cell elecromotility, driven by prestin, is essential for mammalian cochlear
amplification. Here, we report the cryo-EM structures of thermostabilized prestin (PresTS) …
amplification. Here, we report the cryo-EM structures of thermostabilized prestin (PresTS) …
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's fast motor kinetics is essential for mammalian cochlear amplification
S Takahashi, Y Zhou, T Kojima… - Proceedings of the …, 2023 - National Acad Sciences
Prestin (SLC26A5)-mediated voltage-driven elongations and contractions of sensory outer
hair cells within the organ of Corti are essential for mammalian cochlear amplification …
hair cells within the organ of Corti are essential for mammalian cochlear amplification …
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger
Q Liu, X Zhang, H Huang, Y Chen, F Wang… - Nature …, 2023 - nature.com
Abstract Pendrin (SLC26A4) is an anion exchanger expressed in the apical membranes of
selected epithelia. Pendrin ablation causes Pendred syndrome, a genetic disorder …
selected epithelia. Pendrin ablation causes Pendred syndrome, a genetic disorder …
Mechanism of anion exchange and small-molecule inhibition of pendrin
Abstract Pendrin (SLC26A4) is an anion exchanger that mediates bicarbonate (HCO3−)
exchange for chloride (Cl−) and is crucial for maintaining pH and salt homeostasis in the …
exchange for chloride (Cl−) and is crucial for maintaining pH and salt homeostasis in the …
The molecular principles underlying diverse functions of the SLC26 family of proteins
S Takahashi, K Homma - Journal of Biological Chemistry, 2024 - ASBMB
Mammalian SLC26 proteins are membrane-based anion transporters that belong to the
large SLC26/SulP family, and many of their variants are associated with hereditary diseases …
large SLC26/SulP family, and many of their variants are associated with hereditary diseases …
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss
VY Danilchenko, MV Zytsar, EA Maslova… - International Journal of …, 2022 - mdpi.com
Screening pathogenic variants in the SLC26A4 gene is an important part of molecular
genetic testing for hearing loss (HL) since they are one of the common causes of hereditary …
genetic testing for hearing loss (HL) since they are one of the common causes of hereditary …
Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss
T Kojima, K Wasano, S Takahashi… - Disease Models & …, 2021 - journals.biologists.com
ABSTRACT KCNQ4 encodes the homotetrameric voltage-dependent potassium ion channel
Kv7. 4, and is the causative gene for autosomal dominant nonsyndromic sensorineural …
Kv7. 4, and is the causative gene for autosomal dominant nonsyndromic sensorineural …
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 …