Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis (Q28591791)

GOA release 2020-03-11

author

Corinne Antignac

11

0 references

Stephanie Cherqui

object named as

Stéphanie Cherqui

1

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Vasiliki Kalatzis

object named as

Vasiliki Kalatzis

4

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Marie-Claire Gubler

object named as

Marie-Claire Gubler

10

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author name string

Caroline Sevin

2

1 reference

31 January 2017

Ghislaine Hamard

3

1 reference

31 January 2017

Mireille Sich

5

1 reference

31 January 2017

Marie O. Pequignot

6

1 reference

31 January 2017

Karïn Gogat

7

1 reference

31 January 2017

Marc Abitbol

8

1 reference

31 January 2017

Michel Broyer

Molecular and Cellular Biology

9

1 reference

31 January 2017

language of work or name

English

0 references

publication date

1 November 2002

1 reference

31 January 2017

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31 January 2017

22

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31 January 2017

7622–7632

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31 January 2017

21

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31 January 2017

Protein measurement with the Folin phenol reagent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Mutations of CTNS causing intermediate cystinosis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Parenchymal organ cystine depletion with long-term cysteamine therapy

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Germ line chimeras from female ES cells

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Lack of complementation in somatic cell hybrids between fibroblasts from patients with different forms of cystinosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Ophthalmologic involvement in inherited renal disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Functional consequences of oncogene-induced horizontal cell degeneration in the retinas of transgenic mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Cysteamine therapy for children with nephropathic cystinosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Characterization of the lysosomal cystine transport system in mouse L-929 fibroblasts

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

A detailed ethological analysis of the mouse open field test: effects of diazepam, chlordiazepoxide and an extremely low frequency pulsed magnetic field

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Infantile cystinosis: a reappraisal of early and late symptoms.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135682

Glucose-dependent liver gene expression in upstream stimulatory factor 2 -/- mice

27 November 2018

1 reference

12 December 2020

The Fanconi syndrome with cystinossis. Electron microscopy of renal biopsy specimens from five patients

1 reference

12 December 2020

Ocular changes in long-term evolution of infantile cystinosis

1 reference

12 December 2020

Binding assays for amino acids. The utilization of a cystine binding protein from Escherichia coli for the determination of acid-soluble cystine in small physiological samples

1 reference

12 December 2020

Increased Cystine in Leukocytes from Individuals Homozygous and Heterozygous for Cystinosis

1 reference

12 December 2020

Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis

1 reference

12 December 2020

Cystinosis. An ultrastructural and electron-probe study of the kidney with unusual findings

1 reference

12 December 2020

Distal myopathy in nephropathic cystinosis

1 reference

12 December 2020

Cytokines in Gaucher's disease

1 reference

12 December 2020

Cystinosis with involvement of the central nervous system and muscles (myopathy)

1 reference

12 December 2020

Early development of the renal lesions in infantile cystinosis

1 reference

12 December 2020

Open-field behavior in muroid rodents

1 reference

12 December 2020