(Q30499606)

15 November 2017

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

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lysosomal storage disease

15 November 2017

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11

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15 November 2017

13

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15 November 2017

12

Christian A Hübner

1 reference

15 November 2017

Mallorie Poët

1

1 reference

15 November 2017

Uwe Kornak

2

1 reference

15 November 2017

Michaela Schweizer

3

1 reference

15 November 2017

Anselm A Zdebik

4

1 reference

15 November 2017

Olaf Scheel

5

1 reference

15 November 2017

Sabine Hoelter

6

1 reference

15 November 2017

Wolfgang Wurst

7

1 reference

15 November 2017

Anja Schmitt

8

1 reference

15 November 2017

Rosa Planells-Cases

10

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15 November 2017

language of work or name

English

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publication date

1 September 2006

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15 November 2017

6

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Proceedings of the National Academy of Sciences of the United States of America

inferred from page(s)

published in

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15 November 2017

103

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15 November 2017

37

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15 November 2017

13854-13859

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

15 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

Intracellular chloride channels: determinants of function in the endosomal pathway.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

The intracellular location and function of proteins of neuronal ceroid lipofuscinoses

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

The genetic spectrum of human neuronal ceroid-lipofuscinoses

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

Current state of clinical and morphological features in human NCL.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

Disruption of KCC2 reveals an essential role of K-Cl cotransport already in early synaptic inhibition

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

Evidence for the intracellular location of chloride channel (ClC)-type proteins: co-localization of ClC-6a and ClC-6c with the sarco/endoplasmic-reticulum Ca2+ pump SERCA2b

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

Suppression of cathepsins B and L causes a proliferation of lysosomes and the formation of meganeurites in hippocampus.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

A common molecular basis for three inherited kidney stone diseases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

Morphologic studies on adult neuronal-ceroid lipofuscinosis (NCL).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

Projection neurons of basolateral amygdaloid nuclei develop meganeurites in juvenile and adult human neuronal ceroid lipofuscinosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

Kufs' disease: a critical reappraisal

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

ClC-3 chloride channels facilitate endosomal acidification and chloride accumulation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

Functional and structural conservation of CBS domains from CLC chloride channels.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

Localization of mouse CLC-6 and CLC-7 mRNA and their functional complementation of yeast CLC gene mutant.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1564226

Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)

26 November 2018

1 reference

12 December 2020

Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis

1 reference

12 December 2020

Ultrastructure of the retina in adult neuronal ceroid lipofuscinosis

1 reference

12 December 2020

Location of the binding site for chloride ion activation of cathepsin C

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0606137103

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15 November 2017

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15 November 2017

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