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

Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.

Journal of the American Society of Nephrology : JASN - 1 Jul 2012

Fry Andrew C, Su Ya, Yiu Vivian, Cuthbert Alan W, Trachtman Howard, Karet Frankl Fiona E

Abstract excerpt

Mutations in SLC4A1 that mislocalize its product, the chloride/bicarbonate exchanger AE1, away from its normal position on the basolateral membrane of the α-intercalated cell cause autosomal dominant distal renal tubular acidosis (dRTA). We studied a family exhibiting dominant inheritance and defined a mutation (AE1-M909T) that affects the C terminus of AE1, a region rich in potential targeting motifs that are...

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 Amino Acid Motifs

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Anion Exchange Protein 1, Erythrocyte

Share to Kidney

Share to Models, Animal

Share to Oocytes

Share to Xenopus laevis

Source

Open in PubMed Open full text

Identifiers

PMID: 22518001
DOI: 10.1681/ASN.2012020112
PMCID: PMC3380654

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.PMID 22518001Read ↗

A Novel Missense Mutation in AE1 Causing Autosomal Dominant Distal Renal Tubular Acidosis Retains Normal Transport Function but Is Mistargeted in Polarized Epithelial CellsSemantic proximity Read ↗

Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis.Semantic proximity Read ↗

Cation transport activity of anion exchanger 1 mutations found in inherited distal renal tubular acidosis.Semantic proximity Read ↗

Defective kidney anion-exchanger 1 (AE1, Band 3) trafficking in dominant distal renal tubular acidosis (dRTA).Semantic proximity Read ↗

Regions of human kidney anion exchanger 1 (kAE1) required for basolateral targeting of kAE1 in polarised kidney cells: mis-targeting explains dominant renal tubular acidosis (dRTA).Semantic proximity Read ↗

Unraveling the molecular landscape of kAE1: a narrative review.Semantic proximity Read ↗

Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1).Semantic proximity Read ↗

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

Defects in processing and trafficking of the AE1 Cl-/HCO3- exchanger associated with inherited distal renal tubular acidosis.Semantic proximity Read ↗

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.Semantic proximity Read ↗

The carboxyl-terminally truncated kidney anion exchanger 1 R901X dRTA mutant is unstable at the plasma membrane.Semantic proximity Read ↗

Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.Semantic proximity Read ↗

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