Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis. (Q39760186)

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15 January 2020

title

Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis (English)

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15 January 2020

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6

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15 January 2020

author name string

Carmen Chu

1

1 reference

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15 January 2020

Naomi Woods

2

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15 January 2020

Nunghathai Sawasdee

3

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15 January 2020

Helene Guizouarn

4

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15 January 2020

Bernard Pellissier

5

1 reference

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15 January 2020

Pa-thai Yenchitsomanus

7

1 reference

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15 January 2020

Manjula Gowrishankar

8

1 reference

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15 January 2020

Emmanuelle Cordat

9

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15 January 2020

language of work or name

English

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publication date

24 February 2010

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15 January 2020

1 reference

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15 January 2020

volume

426

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15 January 2020

issue

3

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15 January 2020

page(s)

379-388

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SLC4 base (HCO3 -, CO3 2-) transporters: classification, function, structure, genetic diseases, and knockout models

15 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1042%2FBJ20091525

Hematologically important mutations: band 3 and protein 4.2 variants in hereditary spherocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20091525

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20091525

Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20091525

Expression and interaction of two compound heterozygous distal renal tubular acidosis mutants of kidney anion exchanger 1 in epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20091525

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/10.1042%2FBJ20091525

Unraveling trafficking of the kidney anion exchanger 1 in polarized MDCK epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20091525

Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20091525

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/10.1042%2FBJ20091525

Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20091525

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/10.1042%2FBJ20091525

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

21 January 2018

1 reference

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The molecular basis of hereditary red cell membrane disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20091525

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/10.1042%2FBJ20091525

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20091525

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/10.1042%2FBJ20091525

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20091525

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/10.1042%2FBJ20091525

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/10.1042%2FBJ20091525

Glycophorin A: Band 3 aid.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20091525

Trafficking defect of mutant kidney anion exchanger 1 (kAE1) proteins associated with distal renal tubular acidosis and Southeast Asian ovalocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20091525

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

21 January 2018

1 reference

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The preference of tryptophan for membrane interfaces.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20091525

Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20091525