(Q28475418)

English

The G215R Mutation in the Cl−/H+-Antiporter ClC-7 Found in ADO II Osteopetrosis Does Not Abolish Function but Causes a Severe Trafficking Defect

scientific article published on September 7, 2010

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scholarly article

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The G215R mutation in the Cl-/H+-antiporter ClC-7 found in ADO II osteopetrosis does not abolish function but causes a severe trafficking defect (English)

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The G215R Mutation in the Cl−/H+-Antiporter ClC-7 Found in ADO II Osteopetrosis Does Not Abolish Function but Causes a Severe Trafficking Defect (English)

1 reference

10.1371/JOURNAL.PONE.0012585

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0012585

10 July 2024

Johannes Werner

2

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Johannes Werner

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20830208

10 July 2024

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Tobias Stauber

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Europe PubMed Central

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10 July 2024

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Patrick Schulz

1

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Kim Henriksen

4

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Klaus Fendler

5

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publication date

7 September 2010

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https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0012585&type=printable

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Europe PubMed Central

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10 July 2024

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20830208/?tool=EBI

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Europe PubMed Central

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10 July 2024

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20830208/pdf/?tool=EBI

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20830208

10 July 2024

https://europepmc.org/articles/PMC2935355

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Europe PubMed Central

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20830208

10 July 2024

https://europepmc.org/articles/PMC2935355?pdf=render

Portable Document Format

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Europe PubMed Central

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20830208

10 July 2024

http://dx.plos.org/10.1371/journal.pone.0012585

1 reference

10.1371/JOURNAL.PONE.0012585

https://api.crossref.org/works/10.1371/JOURNAL.PONE.0012585

10 July 2024

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5

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e12585

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copyright license

Creative Commons Attribution 4.0 International

7 September 2010

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April 2022 Public Data File from Crossref

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Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2935355/fullTextXML

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Chloride channels as drug targets

1 reference

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ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function

1 reference

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Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II

1 reference

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19 March 2017

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

1 reference

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19 March 2017

Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II

1 reference

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Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis

1 reference

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19 March 2017

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene

1 reference

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Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

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ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family

1 reference

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1 reference

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

1 reference

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19 March 2017

Characteristics of ClC7 Cl- channels and their inhibition in mutant (G215R) associated with autosomal dominant osteopetrosis type II in native osteoclasts and hClcn7 gene-expressing cells

1 reference

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29 September 2017

CLC-7: a potential therapeutic target for the treatment of osteoporosis and neurodegeneration

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Physiological roles of CLC Cl(-)/H (+) exchangers in renal proximal tubules

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SSM-based electrophysiology

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Overexpression of CLC-3 in HEK293T cells yields novel currents that are pH dependent.

1 reference

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CLC chloride channels and transporters: a biophysical and physiological perspective

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29 September 2017

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.

1 reference

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The role of chloride channels in osteoclasts: ClC-7 as a target for osteoporosis treatment

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

1 reference

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

1 reference

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Acidification of the osteoclastic resorption compartment provides insight into the coupling of bone formation to bone resorption.

1 reference

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Amazing chloride channels: an overview

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Acidification of the endocytic and exocytic pathways

1 reference

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The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression

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Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

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The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes.

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Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation

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Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7.

1 reference

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Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation

1 reference

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Characterization of acid flux in osteoclasts from patients harboring a G215R mutation in ClC-7.

1 reference

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

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Identifiers

10.1371/JOURNAL.PONE.0012585

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Consolidated OpenCitations Corpus – April 2017

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2010PLoSO...512585S

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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