The SLC26 gene family of anion transporters and channels
The phylogenetically ancient SLC26 gene family encodes multifunctional anion exchangers
and anion channels transporting a broad range of substrates, including Cl−, HCO3−, sulfate …
and anion channels transporting a broad range of substrates, including Cl−, HCO3−, sulfate …
Unconventional protein secretion–new insights into the pathogenesis and therapeutic targets of human diseases
Most secretory proteins travel through a well-documented conventional secretion pathway
involving the endoplasmic reticulum (ER) and the Golgi complex. However, recently, it has …
involving the endoplasmic reticulum (ER) and the Golgi complex. However, recently, it has …
Structural insights into the gating mechanism of human SLC26A9 mediated by its C-terminal sequence
X Chi, X Jin, Y Chen, X Lu, X Tu, X Li, Y Zhang, J Lei… - Cell discovery, 2020 - nature.com
The human SLC26 transporter family exhibits various transport characteristics, and family
member SLC26A9 performs multiple roles, including acting as Cl–/HCO3–exchangers, Cl …
member SLC26A9 performs multiple roles, including acting as Cl–/HCO3–exchangers, Cl …
Genetics and phenomics of Pendred syndrome
A Bizhanova, P Kopp - Molecular and cellular endocrinology, 2010 - Elsevier
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
deafness, goiter and a partial defect in iodide organification. Goiter development and …
deafness, goiter and a partial defect in iodide organification. Goiter development and …
Hypo‐Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype‐phenotype correlation or …
BY Choi, AK Stewart, AC Madeo, SP Pryor… - Human …, 2009 - Wiley Online Library
Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with
mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl−/I−/HCO …
mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl−/I−/HCO …
Mutation spectrum and genotype–phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study
Mutations in SLC26A4 cause a broad phenotypic spectrum, from typical Pendred syndrome
to nonsyndromic hearing loss associated with enlarged vestibular aqueduct. Identification of …
to nonsyndromic hearing loss associated with enlarged vestibular aqueduct. Identification of …
Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular …
Y Yuan, W Guo, J Tang, G Zhang, G Wang, M Han… - PloS one, 2012 - journals.plos.org
Background Mutations in SLC26A4, which encodes pendrin, are a common cause of
deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic …
deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic …
Potentiating SLC transporter activity: Emerging drug discovery opportunities
ML Rives, JA Javitch, AD Wickenden - Biochemical pharmacology, 2017 - Elsevier
Maintaining the integrity of cellular membranes is critical to protecting metabolic activities
and genetic information from the environment. Regulation of transport across membranes of …
and genetic information from the environment. Regulation of transport across membranes of …
Bicarbonate transport in health and disease
K Alka, JR Casey - IUBMB life, 2014 - Wiley Online Library
Abstract Bicarbonate (HCO3−) has a central place in human physiology as the waste
product of mitochondrial energy production and for its role in pH buffering throughout the …
product of mitochondrial energy production and for its role in pH buffering throughout the …
TMED3 Complex Mediates ER Stress‐Associated Secretion of CFTR, Pendrin, and SARS‐CoV‐2 Spike
H Park, SK Seo, JR Sim, SJ Hwang, YJ Kim… - Advanced …, 2022 - Wiley Online Library
Under ER stress conditions, the ER form of transmembrane proteins can reach the plasma
membrane via a Golgi‐independent unconventional protein secretion (UPS) pathway …
membrane via a Golgi‐independent unconventional protein secretion (UPS) pathway …