A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.
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IRBIT, an inositol 1,4,5-trisphosphate receptor-binding protein, specifically binds to and activates pancreas-type Na+/HCO3- cotransporter 1 (pNBC1)A substrate access tunnel in the cytosolic domain is not an essential feature of the solute carrier 4 (SLC4) family of bicarbonate transportersTopological location and structural importance of the NBCe1-A residues mutated in proximal renal tubular acidosisExpression patterns and subcellular localization of carbonic anhydrases are developmentally regulated during tooth formationRegulation of pH During AmelogenesisNBCe1A dimer assemble visualized by bimolecular fluorescence complementationThe divergence, actions, roles, and relatives of sodium-coupled bicarbonate transportersNa-coupled bicarbonate transporters of the solute carrier 4 family in the nervous system: function, localization, and relevance to neurologic function.Blindness caused by deficiency in AE3 chloride/bicarbonate exchanger.Identification of renal transporters involved in sulfate excretion in marine teleost fish.Prevention of the disrupted enamel phenotype in Slc4a4-null mice using explant organ culture maintained in a living host kidney capsule.NBCe1 as a model carrier for understanding the structure-function properties of Na⁺ -coupled SLC4 transporters in health and disease.The sodium bicarbonate cotransporter (NBCe1) is essential for normal development of mouse dentition.Role of an extracellular loop in determining the stoichiometry of Na+-HCO₃⁻ cotransporters.The SLC4 family of bicarbonate (HCO₃⁻) transporters.Gene expression and functional annotation of the human ciliary body epithelia.Evidence from simultaneous intracellular- and surface-pH transients that carbonic anhydrase II enhances CO2 fluxes across Xenopus oocyte plasma membranesCloning and characterization of an electrogenic Na/HCO3- cotransporter from the squid giant fiber lobe.NBCe1 in mouse and human ameloblasts may be indirectly regulated by fluoride.Identification and apical membrane localization of an electrogenic Na⁺/Ca²⁺ exchanger NCX2a likely to be involved in renal Ca²⁺ excretion by seawater fish.Rescue of the temperature-sensitive, autosomal-recessive mutation R298S in the sodium-bicarbonate cotransporter NBCe1-A characterized by a weakened dimer and abnormal aggregation.MicroRNA 224 Regulates Ion Transporter Expression in Ameloblasts To Coordinate Enamel Mineralization.Euryhaline pufferfish NBCe1 differs from nonmarine species NBCe1 physiologyRequirements for ion and solute transport, and pH regulation during enamel maturation.The role of aspartic acid residues 405 and 416 of the kidney isotype of sodium-bicarbonate cotransporter 1 in its targeting to the plasma membrane.NBCe1 expression is required for normal renal ammonia metabolism.Electrogenic Na/HCO3 cotransporter (NBCe1) variants expressed in Xenopus oocytes: functional comparison and roles of the amino and carboxy termini.pH-sensitive self-associations of the N-terminal domain of NBCe1-A suggest a compact conformation under acidic intracellular conditions.Structure and Function of SLC4 Family [Formula: see text] Transporters.SLC4 base (HCO3 -, CO3 2-) transporters: classification, function, structure, genetic diseases, and knockout models.Monitoring ion activities in and around cells using ion-selective liquid-membrane microelectrodesCation-coupled bicarbonate transportersTopology of NBCe1 protein transmembrane segment 1 and structural effect of proximal renal tubular acidosis (pRTA) S427L mutation.Proximal renal tubular acidosis: a not so rare disorder of multiple etiologiesInherited renal acidoses.Differential expression of the Slc4 bicarbonate transporter family in murine corneal endothelium and cell culture.Electrogenic NBCe1 (SLC4A4), but not electroneutral NBCn1 (SLC4A7), cotransporter undergoes cholinergic-stimulated endocytosis in salivary ParC5 cellsG418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis.Modular structure of sodium-coupled bicarbonate transportersMutation of Aspartate 555 of the Sodium/Bicarbonate Transporter SLC4A4/NBCe1 Induces Chloride Transport
P2860
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P2860
A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
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2004年学术文章
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2004年學術文章
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name
A novel missense mutation in t ...... through ion transport defects.
@en
A novel missense mutation in the sodium bicarbonate cotransporter
@nl
type
label
A novel missense mutation in t ...... through ion transport defects.
@en
A novel missense mutation in the sodium bicarbonate cotransporter
@nl
prefLabel
A novel missense mutation in t ...... through ion transport defects.
@en
A novel missense mutation in the sodium bicarbonate cotransporter
@nl
P2093
P2860
P356
P1476
A novel missense mutation in t ...... through ion transport defects.
@en
P2093
Aaron Knecht
Brenda L Smith
Dganit Dinour
Eli J Holtzman
Irina Serban
Jun-ichi Satoh
Michael F Romero
Min-Hwang Chang
Nathan Angle
P2860
P304
52238-52246
P356
10.1074/JBC.M406591200
P407
P577
2004-10-07T00:00:00Z