Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing (Q39816254)

14 September 2017

Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing (English)

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14 September 2017

7

Rosa Vargas-Poussou

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author name string

Teddy Grand

1

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14 September 2017

David Mordasini

2

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14 September 2017

Sébastien L'Hoste

3

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14 September 2017

Thomas Pennaforte

4

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14 September 2017

Mathieu Genete

5

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14 September 2017

Marie-Jeanne Biyeyeme

6

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14 September 2017

Rosa Vargas-Poussou

7

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14 September 2017

Anne Blanchard

8

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14 September 2017

Jacques Teulon

9

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14 September 2017

Stéphane Lourdel

10

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14 September 2017

language of work or name

English

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publication date

5 August 2009

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14 September 2017

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14 September 2017

76

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14 September 2017

999-1005

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14 September 2017

9

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https://scigraph.springernature.com/pub.10.1038/ki.2009.305

14 September 2017

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cites work

Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Dent Disease with mutations in OCRL1

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https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins

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https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease

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https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells

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https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Molecular cloning and characterization of an intracellular chloride channel in the proximal tubule cell line, LLC-PK1.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Intracellular localization of ClC chloride channels and their ability to form hetero-oligomers

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https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease.

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https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Impaired acidification in early endosomes of ClC-5 deficient proximal tubule

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https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

The ClC-5 chloride channel knock-out mouse - an animal model for Dent's disease.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Cofilin interacts with ClC-5 and regulates albumin uptake in proximal tubule cell lines.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Regulation of albumin endocytosis by PSD95/Dlg/ZO-1 (PDZ) scaffolds. Interaction of Na+-H+ exchange regulatory factor-2 with ClC-5.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Nedd4-2 functionally interacts with ClC-5: involvement in constitutive albumin endocytosis in proximal tubule cells

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Mutational analysis demonstrates that ClC-4 and ClC-5 directly mediate plasma membrane currents.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

A common molecular basis for three inherited kidney stone diseases

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Comparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Functional expression of the human thiazide-sensitive NaCl cotransporter in Madin-Darby canine kidney cells.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

N-glycosylation of the Xenopus laevis ClC-5 protein plays a role in cell surface expression, affecting transport activity at the plasma membrane.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Coexpression of complementary fragments of ClC-5 and restoration of chloride channel function in a Dent's disease mutation.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

ClC-5: role in endocytosis in the proximal tubule.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Secondary active transport mediated by a prokaryotic homologue of ClC Cl- channels.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.305

7 January 2021

Identifiers

DOI

10.1038/KI.2009.305

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Dimensions Publication ID

14 September 2017

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