Constitutive activity of the human TRPML2 channel induces cell degeneration (Q33594064)

28 July 2017

title

Constitutive activity of the human TRPML2 channel induces cell degeneration (English)

1 reference

28 July 2017

Shaya Lev

1

1 reference

28 July 2017

David A Zeevi

2

1 reference

28 July 2017

Ayala Frumkin

3

1 reference

28 July 2017

Vered Offen-Glasner

4

1 reference

28 July 2017

Gideon Bach

5

1 reference

28 July 2017

Baruch Minke

6

1 reference

28 July 2017

language of work or name

English

0 references

publication date

23 November 2009

1 reference

Journal of Biological Chemistry

28 July 2017

published in

1 reference

28 July 2017

volume

285

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28 July 2017

issue

4

1 reference

28 July 2017

page(s)

2771-2782

1 reference

The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

The Ca(2+) channel TRPML3 regulates membrane trafficking and autophagy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

The calcium channel mucolipin-3 is a novel regulator of trafficking along the endosomal 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=2807332

Life and death of sensory hair cells expressing constitutively active TRPML3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

Membrane lipid modulations remove divalent open channel block from TRP-like and NMDA 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=2807332

The multimeric structure of polycystin-2 (TRPP2): structural-functional correlates of homo- and hetero-multimers with TRPC1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

TRPMLs: in sickness and in health

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

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=2807332

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=2807332

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=2807332

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=2807332

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=2807332

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=2807332

Mucolipin-2 localizes to the Arf6-associated pathway and regulates recycling of GPI-APs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

The menthol receptor TRPM8 is the principal detector of environmental cold

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

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=2807332

Open channel block by Ca2+ underlies the voltage dependence of drosophila TRPL 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=2807332

Molecular determinants of permeation through the cation channel TRPM6.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

A common mechanism underlies stretch activation and receptor activation of TRPC6 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=2807332

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=2807332

TRP channels and Ca2+ signaling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

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=2807332

Potentiation of TRPV3 channel function by unsaturated fatty acids

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

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=2807332

An introduction to TRP 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=2807332

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=2807332

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=2807332

Differential expression and molecular characterisation of Lmo7, Myo1e, Sash1, and Mcoln2 genes in Btk-defective B-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=2807332

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

Homo- and heteromeric assembly of TRP channel subunits

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

Mucolipin 1: endocytosis and cation channel--a review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

Improved monomeric red, orange and yellow fluorescent proteins derived from Discosoma sp. red fluorescent protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

Rapid vesicular translocation and insertion of TRP 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=2807332

A diacylglycerol-gated cation channel in vomeronasal neuron dendrites is impaired in TRPC2 mutant mice: mechanism of pheromone transduction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

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=2807332

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=2807332

The molecular basis 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=2807332

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=2807332

LTRPC7 is a Mg.ATP-regulated divalent cation channel required for cell viability

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

TRPC1 and TRPC5 form a novel cation channel in mammalian brain.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

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=2807332

Novel mechanism of massive photoreceptor degeneration caused by mutations in the trp gene of Drosophila.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

Combined cochleo-saccular and neuroepithelial abnormalities in the Varitint-waddler-J (VaJ) 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=2807332

Cell lines derived from late embryonic stages of Drosophila melanogaster

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

Induction of photoreceptor voltage noise in the dark in Drosophila mutant

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization.

21 June 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.046508

Functional multimerization of mucolipin channel proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.046508

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.M109.046508

Gene expression profile of B cells from Xid mice and Btk knockout mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.046508

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.M109.046508

Polyunsaturated fatty acids activate the Drosophila light-sensitive channels TRP and TRPL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.046508

Metabolic stress reversibly activates the Drosophila light-sensitive channels TRP and TRPL in vivo.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2807332

A potentially dynamic lysosomal role for the endogenous TRPML proteins

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19940139

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1074/JBC.M109.046508

1 reference

28 July 2017

1 reference

28 July 2017

1 reference