(Q38338952)

2 September 2017

title

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

1 reference

distal renal tubular acidosis

2 September 2017

main subject

1 reference

based on heuristic

inferred from title

renal tubular acidosis

1 reference

Saranya Kittanakom

1

1 reference

2 September 2017

Emmanuelle Cordat

2

1 reference

2 September 2017

Varaporn Akkarapatumwong

3

1 reference

2 September 2017

Pa-Thai Yenchitsomanus

4

1 reference

2 September 2017

Reinhart A F Reithmeier

5

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2 September 2017

language of work or name

English

0 references

publication date

13 July 2004

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Journal of Biological Chemistry

2 September 2017

published in

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2 September 2017

volume

279

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2 September 2017

issue

39

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2 September 2017

page(s)

40960-40971

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Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

2 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Familial distal renal tubular acidosis with neurosensory deafness: early nephrocalcinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1)

21 January 2018

1 reference

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The complete amino acid sequence of the human erythrocyte membrane anion-transport protein deduced from the cDNA sequence

21 January 2018

1 reference

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The structure and function of band 3 (AE1): recent developments (review).

21 January 2018

1 reference

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Identification of the carbonic anhydrase II binding site in the Cl(-)/HCO(3)(-) anion exchanger AE1

21 January 2018

1 reference

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Carboxyl-terminal truncations of human anion exchanger impair its trafficking to the plasma membrane

21 January 2018

1 reference

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Subtypes of intercalated cells in rat kidney collecting duct defined by antibodies against erythroid band 3 and renal vacuolar H+-ATPase

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

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).

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Band 3 Walton, a C-terminal deletion associated with distal renal tubular acidosis, is expressed in the red cell membrane but retained internally in kidney cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Defective anion transport activity of the abnormal band 3 in hereditary ovalocytic red blood cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Red-cell glycophorin A-band 3 interactions associated with the movement of band 3 to the cell surface.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Genetic diseases of acid-base transporters

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Processing of N-linked oligosaccharide depends on its location in the anion exchanger, AE1, membrane glycoprotein

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

High level transient expression of a chloramphenicol acetyl transferase gene by DEAE-dextran mediated DNA transfection coupled with a dimethyl sulfoxide or glycerol shock treatment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Regulation of the epithelial brush border Na+/H+ exchanger isoform 3 stably expressed in fibroblasts by fibroblast growth factor and phorbol esters is not through changes in phosphorylation of the exchanger

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Transport activity of AE3 chloride/bicarbonate anion-exchange proteins and their regulation by intracellular pH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

ER quality control: the cytoplasmic connection

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

The role of cysteine residues in the erythrocyte plasma membrane anion exchange protein, AE1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Novel method for evaluation of the oligomeric structure of membrane proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Proline-induced disruption of a transmembrane alpha-helix in its natural environment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Calnexin interaction with N-glycosylation mutants of a polytopic membrane glycoprotein, the human erythrocyte anion exchanger 1 (band 3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

Protein misfolding and degradation in genetic diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405356200

21 January 2018

Identifiers

DOI

10.1074/JBC.M405356200

1 reference

2 September 2017

1 reference