Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis (Q33553835)

28 July 2017

Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis (English)

1 reference

28 July 2017

Xian-ping Dong

1

1 reference

28 July 2017

Xiang Wang

2

1 reference

28 July 2017

Dongbiao Shen

3

1 reference

28 July 2017

Su Chen

4

1 reference

28 July 2017

Meiling Liu

5

1 reference

28 July 2017

Yanbin Wang

6

1 reference

28 July 2017

Eric Mills

7

1 reference

28 July 2017

Xiping Cheng

8

1 reference

28 July 2017

Markus Delling

9

1 reference

28 July 2017

Haoxing Xu

10

1 reference

28 July 2017

language of work or name

English

0 references

publication date

28 July 2009

1 reference

Journal of Biological Chemistry

28 July 2017

13

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based on heuristic

inferred from page(s)

published in

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28 July 2017

284

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28 July 2017

46

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28 July 2017

32040-32052

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Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

The varitint-waddler mouse phenotypes and the TRPML3 ion channel mutation: cause and consequence

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

Membrane traffic and turnover in TRP-ML1-deficient cells: a revised model for mucolipidosis type IV pathogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

TRPV1 shows dynamic ionic selectivity during agonist stimulation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

A novel mode of TRPML3 regulation by extracytosolic pH absent in the varitint-waddler phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

Gain-of-function mutation in TRPML3 causes the mouse Varitint-Waddler phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

The role of calcium and other ions in sorting and delivery in the late endocytic pathway

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

Lysosomes: fusion and function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

Regulated ATP release from astrocytes through lysosome exocytosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

TRPML3 and hearing loss in the varitint-waddler mouse

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

TRPML and lysosomal function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

Transient receptor potential cation channels in disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

The TRP superfamily of cation channels

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

The small chemical vacuolin-1 inhibits Ca(2+)-dependent lysosomal exocytosis but not cell resealing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

A spontaneous, recurrent mutation in divalent metal transporter-1 exposes a calcium entry pathway

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

TRP channels as cellular sensors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

Membrane proximal lysosomes are the major vesicles responsible for calcium-dependent exocytosis in nonsecretory cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

The neurogenetics of mucolipidosis type IV

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

Plasma membrane repair is mediated by Ca(2+)-regulated exocytosis of lysosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

21 June 2018

Mucolipidosis type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

Identification of the gene causing mucolipidosis type IV.

21 June 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.037184

Proline-induced hinges in transmembrane helices: possible roles in ion channel gating

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.037184

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.037184

Lysosomal exocytosis is impaired in mucolipidosis type IV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.037184

Voltage sensor of Kv1.2: structural basis of electromechanical coupling

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.037184

TRPML3 mutations cause impaired mechano-electrical transduction and depolarization by an inward-rectifier cation current in auditory hair cells of varitint-waddler mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.037184

A gating hinge in Na+ channels; a molecular switch for electrical signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.037184

The relationship between intracellular free iron and cell injury in cultured neurons, astrocytes, and oligodendrocytes.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2797275

31 October 2018

Identifiers

DOI

10.1074/JBC.M109.037184

1 reference

28 July 2017

1 reference

28 July 2017

1 reference