Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis.

American journal of physiology. Cell physiology - 15 Aug 2013

Zhu Quansheng, Shao Xuesi M, Kao Liyo, Azimov Rustam, Weinstein Alan M, Newman Debra, Liu Weixin, Kurtz Ira

Abstract excerpt

Mutations in SLC4A4, the gene encoding the electrogenic Na(+)-HCO3(-) cotransporter NBCe1, cause severe proximal renal tubular acidosis (pRTA), growth retardation, decreased IQ, and eye and teeth abnormalities. Among the known NBCe1 mutations, the disease-causing mechanism of the T485S (NBCe1-A numbering) mutation is intriguing because the substituted amino acid, serine, is structurally and chemically similar to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acidosis, Renal Tubular
Share to Bicarbonates

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ethyl Methanesulfonate

Share to Ethylmaleimide

Share to Kidney Tubules, Proximal

Share to Mesylates

Share to Nitrates

Share to Sodium-Bicarbonate Symporters

Source

Open in PubMed Open full text

Identifiers

PMID: 23636456
DOI: 10.1152/ajpcell.00044.2013
PMCID: PMC3891219

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis.PMID 23636456Read ↗

Structure, function, and regulation of the SLC4 NBCe1 transporter and its role in causing proximal renal tubular acidosis.Semantic proximity Read ↗

Functional characterization of nonsynonymous single nucleotide polymorphisms in the electrogenic Na+-HCO3- cotransporter NBCe1A.Semantic proximity Read ↗

Topology of NBCe1 protein transmembrane segment 1 and structural effect of proximal renal tubular acidosis (pRTA) S427L mutation.Semantic proximity Read ↗

[Physiology and pathophysiology of Na⁺/HCO₃⁻ cotransporter NBCe1].Semantic proximity Read ↗

A novel I551F variant of the Na+/HCO3- cotransporter NBCe1-A shows reduced cell surface expression, resulting in diminished transport activity.Semantic proximity Read ↗

A previously uncharacterized R881S variant of transporter NBCe1 exhibits intracellular retention and virtually no plasma membrane expression.Semantic proximity Read ↗

HCO(3)(-)-independent conductance with a mutant Na(+)/HCO(3)(-) cotransporter (SLC4A4) in a case of proximal renal tubular acidosis with hypokalaemic paralysis.Semantic proximity Read ↗

Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine.Semantic proximity Read ↗

Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.Semantic proximity Read ↗

Cloning, Characterization, and Chromosomal Mapping of a Human Electroneutral Na+-driven Cl-HCO3ExchangerSemantic proximity Read ↗

Entry to "formula tunnel" revealed by SLC4A4 human mutation and structural model.Semantic proximity Read ↗

Molecular physiology and genetics of Na+-independent SLC4 anion exchangersSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.