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structure of a bovine CLC channel (CLC-K) using cryo-electron microscopy
Increasing expression of barttin over that of ClC-K partially recovered this insufficiency, indicating that N-terminal modifications of barttin alter both binding affinities and gating properties
These results suggest that BSND is expressed only in normal salivary glands and oncocytic salivary gland tumors such as Warthin's tumor and oncocytoma
results demonstrate that the carboxyl terminus of hClC-Kb is not part of the binding site for barttin, but functionally modifies the interplay with barttin.
These results demonstrate that mutations in a cluster of hydrophobic residues within transmembrane domain 1 affect barttin-CLC-K interaction and impair gating modification by the accessory subunit
R8W and G47R, two naturally occurring barttin mutations identified in patients with Bartter syndrome type IV, reduce barttin palmitoylation and CLC-K/barttin channel activity.
BSND, was first modeled, and then, the identified mutation was further analyzed by using different bioinformatics tools.
Case Report: G47R mutation decreases barttin expression, resulting CIC-K location being changed from the basement membrane to the cytoplasm in the tubule and might have varying effects on renal function associated with factors other than this gene.
The mislocalization of CLC-K2 was identified as the molecular pathogenesis of Bartter syndrome by mutant barttins.
ClC-Ka/barttin channels are regulated by SGK1 and SGK3, which may thus participate in the regulation of transport in kidney and inner ear.
A missense, point mutation on gene BSND exon 1, affects the function of the CLC-K/barttin chloride channel and caused Bartter syndrome with sensorineural deafness in two families from Spain.
Barttin mutations is associated with antenatal Bartter syndrome with sensorineural deafness
Barttin modulates trafficking and function of ClC-K1 and ClC-Kb channels
BSND-V43I, a common variant conferring partial loss of function, exhibits significant deviation from equilibrium in the Ghanaian normotensive control population
Disruption of the gene encoding Barttin, BSND, results in a 'double knockout' of the functions of both ClCKA and ClCKB, manifesting as Bartter syndrome type IV with sensorineural deafness and an especially severe salt-losing phenotype.
Bartter syndrome type IV can be caused by various derangements in the function of barttin, likely contributing to the diversity of observed phenotypes.
Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome.
In a large cohort of ante/neonatal Bartter syndrome, deafness, transient hyperkalaemia and severe hypokalaemic hypochloraemic alkalosis orientate molecular investigations to BSND, KCNJ1 and CLCNKB genes, respectively.
The molecular basis of DFNB73 autosomal recessive deafness is reported.
our study provides in vivo evidence that, in response to a low-potassium diet, ClC-K and barttin play important roles in the activation of the WNK4-SPAK-NCC cascade and blood pressure regulation.
induction of SGK1, CLC-K1 and barttin by high osmolarity and change in intracellular volume in distal renal tubular cells in vivo and in vitro
Bsnd(-/-) mice thus demonstrate a novel function of Cl(-) channels in generating the endocochlear potential and reveal the mechanism leading to deafness in human Bartter syndrome IV.
This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness.
Bartter syndrome, infantile, with sensorineural deafness (Barttin)
, deafness, autosomal recessive 73