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

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

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

http://www.wikidata.org/entity/Q24657402

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A novel mode of TRPML3 regulation by extracytosolic pH absent in the varitint-waddler phenotype Life and death of sensory hair cells expressing constitutively active TRPML3 The role of TRPMLs in endolysosomal trafficking and function Permeation, regulation and control of expression of TRP channels by trace metal ions Mucolipin co-deficiency causes accelerated endolysosomal vacuolation of enterocytes and failure-to-thrive from birth to weaning Regulation of lysosomal ion homeostasis by channels and transporters Constitutive activity of TRPML2 and TRPML3 channels versus activation by low extracellular sodium and small molecules The physiology of mechanoelectrical transduction channels in hearing.A quantitative analysis of the spatiotemporal pattern of transient receptor potential gene expression in the developing mouse cochlea.Linking genes underlying deafness to hair-bundle development and function.Genetic inactivation of Trpml3 does not lead to hearing and vestibular impairment in mice The Concise Guide to PHARMACOLOGY 2013/14: ion channels Myosin-1A targets to microvilli using multiple membrane binding motifs in the tail homology 1 (TH1) domain.Expression and vesicular localization of mouse Trpml3 in stria vascularis, hair cells, and vomeronasal and olfactory receptor neurons Small molecule activators of TRPML3 Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis.Constitutive activity of the human TRPML2 channel induces cell degeneration Aberrant Ca2+ handling in lysosomal storage disorders Mucolipins: Intracellular TRPML1-3 channels Properties of the TRPML3 channel pore and its stable expansion by the Varitint-Waddler-causing mutation.Fascin 2b is a component of stereocilia that lengthens actin-based protrusions.TRP channels of intracellular membranes Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy The calcium channel mucolipin-3 is a novel regulator of trafficking along the endosomal pathway Targeting of the hair cell proteins cadherin 23, harmonin, myosin XVa, espin, and prestin in an epithelial cell model.The Ca(2+) channel TRPML3 regulates membrane trafficking and autophagy A novel ion channel formed by interaction of TRPML3 with TRPV5.Constitutive activity of TRP channels methods for measuring the activity and its outcome.TRPML: transporters of metals in lysosomes essential for cell survival?Permeation properties of the hair cell mechanotransducer channel provide insight into its molecular structure Hair-Cell Mechanotransduction Persists in TRP Channel Knockout Mice.Role of TRP channels in the regulation of the endosomal pathway.The intracellular Ca²⁺ channels of membrane traffic.The mucolipin-2 (TRPML2) ion channel: a tissue-specific protein crucial to normal cell function.Multiple unbiased prospective screens identify TRP channels and their conserved gating elements TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription.TRPMLs: in sickness and in health.A double TRPtych: six views of transient receptor potential channels in disease and health Defining features of the hair cell mechanoelectrical transducer channel Drosophila TRPML forms PI(3,5)P2-activated cation channels in both endolysosomes and plasma membrane.

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P2860

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

http://www.wikidata.org/entity/Q24657402

description

2008 nî lūn-bûn

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2008 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2008 թվականի հունվարին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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name

The varitint-waddler (Va) deaf ...... s and causes cell degeneration

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The varitint-waddler (Va) deaf ...... s and causes cell degeneration

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The varitint-waddler (Va) deaf ...... s and causes cell degeneration

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type

label

The varitint-waddler (Va) deaf ...... s and causes cell degeneration

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The varitint-waddler (Va) deaf ...... s and causes cell degeneration

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The varitint-waddler (Va) deaf ...... s and causes cell degeneration

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prefLabel

The varitint-waddler (Va) deaf ...... s and causes cell degeneration

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The varitint-waddler (Va) deaf ...... s and causes cell degeneration

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The varitint-waddler (Va) deaf ...... s and causes cell degeneration

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Proceedings of the National Academy of Sciences of the United States of America

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The varitint-waddler (Va) deaf ...... s and causes cell degeneration

@en

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Andrew J Castiglioni

http://www.w3.org/2001/XMLSchema#string

Jaime García-Añoveros

http://www.w3.org/2001/XMLSchema#string

Keiichi Nagata

http://www.w3.org/2001/XMLSchema#string

Lili Zheng

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Thomas Madathany

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P2860

BNaC1 and BNaC2 constitute a new family of human neuronal sodium channels related to degenerins and epithelial sodium channels

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

Transient receptor potential cation channels in disease

Nociceptor and hair cell transducer properties of TRPA1, a channel for pain and hearing

Two functionally dependent acetylcholine subunits are encoded in a single Caenorhabditis elegans operon.

Gain of function mutants: ion channels and G protein-coupled receptors.

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

The mammalian degenerin MDEG, an amiloride-sensitive cation channel activated by mutations causing neurodegeneration in Caenorhabditis elegans.

Inner ear defects induced by null mutation of the isk gene.

Lysosomal storage disorders.

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353-358

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scholarly article

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1503296

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10.1073/PNAS.0707963105

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1

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105

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James R Bartles

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2007-12-27T00:00:00Z

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5686110

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18162548

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2224216

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