Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus (Q43287311)

18 November 2017

title

Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus (English)

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18 November 2017

Grazia Tamma

3

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author name string

Erik-Jan Kamsteeg

1

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18 November 2017

Monique Stoffels

2

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18 November 2017

Irene B M Konings

4

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18 November 2017

Peter M T Deen

5

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18 November 2017

language of work or name

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1 October 2009

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18 November 2017

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18 November 2017

volume

30

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18 November 2017

issue

10

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18 November 2017

page(s)

1387-1396

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The proteasome is involved in the degradation of different aquaporin-2 mutants causing nephrogenic diabetes insipidus

18 November 2017

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A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.

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Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus

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7 January 2021

Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing

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Apical and basolateral expression of aquaporin-1 in transfected MDCK and LLC-PK cells and functional evaluation of their transcellular osmotic water permeabilities

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Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine

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7 January 2021

Phosphorylation of serine 256 is required for cAMP-dependent regulatory exocytosis of the aquaporin-2 water channel

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Recognition of sorting signals by clathrin adaptors

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Localization of TGN38 to the trans-Golgi network: involvement of a cytoplasmic tyrosine-containing sequence

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Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus

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Detection of aquaporin-2 in the plasma membranes of oocytes: a novel isolation method with improved yield and purity

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The subcellular localization of an aquaporin-2 tetramer depends on the stoichiometry of phosphorylated and nonphosphorylated monomers

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7 January 2021

Short-chain ubiquitination mediates the regulated endocytosis of the aquaporin-2 water channel

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Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.

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7 January 2021

An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus

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7 January 2021

Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus

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7 January 2021

Congenital progressive hydronephrosis (cph) is caused by an S256L mutation in aquaporin-2 that affects its phosphorylation and apical membrane accumulation

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7 January 2021

An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex

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7 January 2021

Ser-256 phosphorylation dynamics of Aquaporin 2 during maturation from the ER to the vesicular compartment in renal cells.

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7 January 2021

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Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation

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7 January 2021

Compartmentalization of cAMP-dependent signaling by phosphodiesterase-4D is involved in the regulation of vasopressin-mediated water reabsorption in renal principal cells.

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7 January 2021

The role of putative phosphorylation sites in the targeting and shuttling of the aquaporin-2 water channel

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7 January 2021

Hypertonicity is involved in redirecting the aquaporin-2 water channel into the basolateral, instead of the apical, plasma membrane of renal epithelial cells

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7 January 2021

Identifiers

DOI

10.1002/HUMU.21068

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18 November 2017

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