Isolated ocular disease is associated with decreased mucolipin-1 channel conductance (Q28271915)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18326692%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

title

Isolated ocular disease is associated with decreased mucolipin-1 channel conductance (English)

1 reference

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3 January 2020

4

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3 January 2020

author name string

Ehud Goldin

1

1 reference

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3 January 2020

Rafael C Caruso

2

1 reference

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3 January 2020

William Benko

3

1 reference

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3 January 2020

Stephanie Stahl

5

1 reference

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3 January 2020

Raphael Schiffmann

6

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3 January 2020

language of work or name

English

0 references

publication date

7 March 2008

1 reference

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Investigative Ophthalmology Visual Science

3 January 2020

published in

1 reference

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3 January 2020

volume

49

1 reference

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3 January 2020

page(s)

3134-3142

1 reference

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3 January 2020

issue

7

1 reference

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Reconstitution and characterization of a nicotinic acid adenine dinucleotide phosphate (NAADP)-sensitive Ca2+ release channel from liver lysosomes of rats

3 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5267708

The neurogenetics of mucolipidosis type IV

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5267708

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5267708

Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5267708

Constitutive achlorhydria in mucolipidosis type IV

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5267708

Mucolipin 1 channel activity is regulated by protein kinase A-mediated phosphorylation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5267708

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5267708

TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5267708

Cation channel activity of mucolipin-1: the effect of calcium.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5267708

Mucolipidosis IV consists of one complementation group

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5267708

Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5267708

Suppression of the cup-5 mucolipidosis type IV-related lysosomal dysfunction by the inactivation of an ABC transporter in C. elegans.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5267708

Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5267708

Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5267708

Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5267708

Identification of the gene causing mucolipidosis type IV.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5267708

Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18326692

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mucolipidosis type IV. Presentation of a mild variant

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18326692

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18326692

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1167/IOVS.07-1649

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18326692%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18326692%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

1 reference