A novel mode of TRPML3 regulation by extracytosolic pH absent in the varitint-waddler phenotype (Q24646638)

2

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Sandra Tjon-Kon-Sang

3

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Insuk So

4

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Kirill Kiselyov

5

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Abigail A Soyombo

6

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Shmuel Muallem

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

7

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language of work or name

English

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publication date

23 April 2008

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published in

The EMBO Journal

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volume

27

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issue

8

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page(s)

1197-205

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cites work

1 reference

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

7 April 2017

1 reference

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Transient receptor potential cation channels in disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2367400

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

7 April 2017

1 reference

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

27 September 2017

1 reference

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

27 September 2017

1 reference

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27 September 2017

1 reference

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

27 September 2017

1 reference

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Permeation and selectivity of TRP channels

27 September 2017

1 reference

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TRP channels: an overview

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2367400

The pH of the secretory pathway: measurement, determinants, and regulation

27 September 2017

1 reference

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Diverse and essential roles of mammalian vacuolar-type proton pump ATPase: toward the physiological understanding of inside acidic compartments

27 September 2017

1 reference

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The epithelial calcium channels, TRPV5 & TRPV6: from identification towards regulation

27 September 2017

1 reference

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The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types

27 September 2017

1 reference

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Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog

27 September 2017

1 reference

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Combined cochleo-saccular and neuroepithelial abnormalities in the Varitint-waddler-J (VaJ) mouse.

27 September 2017

1 reference

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TRPML cation channels regulate the specialized lysosomal compartment of vertebrate B-lymphocytes

30 May 2018

1 reference

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

28 November 2018

1 reference

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Identification of the gene causing mucolipidosis type IV.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2367400

28 November 2018

Identifiers

DOI

10.1038/EMBOJ.2008.56

1 reference

1503295

1503295

1 reference

1 reference

1 reference