(Q30373387)

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

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scholarly article

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Europe PubMed Central

PMC publication ID

18 August 2017

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

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

21 June 2017

Jonathan D Lippiat

object named as

Jonathan D Lippiat

5

0 references

2

object named as

Anita A C Reed

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

3

object named as

Nellie Y Loh

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

author name string

Andrew J Smith

1

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Europe PubMed Central

PMC publication ID

18 August 2017

publication date

19 November 2008

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Europe PubMed Central

PMC publication ID

18 August 2017

American Journal of Physiology - Renal Physiology

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

296

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

F390-7

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2643861/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

Biogenesis and function of multivesicular bodies

1 reference

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20 June 2018

Kir6.2 mutations causing neonatal diabetes prevent endocytosis of ATP-sensitive potassium channels

1 reference

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20 June 2018

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

1 reference

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Specific rescue of cystic fibrosis transmembrane conductance regulator processing mutants using pharmacological chaperones

1 reference

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Separate ion pathways in a Cl-/H+ exchanger

1 reference

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20 June 2018

ClC-5: a chloride channel with multiple roles in renal tubular albumin uptake.

1 reference

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20 June 2018

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

1 reference

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20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643861

20 June 2018

Dent Disease with mutations in OCRL1

1 reference

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20 June 2018

SWISS-MODEL: An automated protein homology-modeling server

1 reference

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20 June 2018

Gating the selectivity filter in ClC chloride channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643861

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643861

20 June 2018

Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients

1 reference

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20 June 2018

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

1 reference

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20 June 2018

Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism

1 reference

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Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy

1 reference

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20 June 2018

Characterization of renal chloride channel (CLCN5) mutations in Dent's disease

1 reference

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Correction of defective protein trafficking of a mutant HERG potassium channel in human long QT syndrome. Pharmacological and temperature effects

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20 June 2018

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

1 reference

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20 June 2018

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

1 reference

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1 reference

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20 June 2018

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

1 reference

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X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations

1 reference

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20 June 2018

Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.

1 reference

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Inward rectification in ClC-0 chloride channels caused by mutations in several protein regions

1 reference

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20 June 2018

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

1 reference

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20 June 2018

Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)

1 reference

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A common molecular basis for three inherited kidney stone diseases

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Chloride Conductance Expressed by ΔF508 and Other Mutant CFTRs In Xenopus Oocytes

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

1 reference

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

1 reference

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Chloride transport in the kidney: lessons from human disease and knockout mice.

1 reference

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

1 reference

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Sulfonylureas correct trafficking defects of ATP-sensitive potassium channels caused by mutations in the sulfonylurea receptor

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Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643861

26 November 2018

Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643861

26 November 2018

An internalization signal in ClC-5, an endosomal Cl-channel mutated in dent's disease.

1 reference

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26 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643861

26 November 2018

Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2643861

26 November 2018

Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis

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Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19019917

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A boy with Japanese Dent's disease exhibiting abnormal calcium metabolism and osseous disorder of the spine: defective megalin expression at the brushborder of renal proximal tubules

1 reference

https://pubmed.ncbi.nlm.nih.gov/19019917

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1152/AJPRENAL.90526.2008

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

ResearchGate publication ID

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