Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q33553835

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Clarifying lysosomal storage diseases International Union of Basic and Clinical Pharmacology. LXXVI. Current progress in the mammalian TRP ion channel family The role of TRPMLs in endolysosomal trafficking and function Permeation, regulation and control of expression of TRP channels by trace metal ions Mucolipidosis type IV: an update Constitutive activity of TRPML2 and TRPML3 channels versus activation by low extracellular sodium and small molecules Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant PI(3,5)P2 controls membrane trafficking by direct activation of mucolipin Ca2+ release channels in the endolysosome Constitutive activity of the human TRPML2 channel induces cell degeneration Lysosomal exocytosis and lipid storage disorders.Mucolipins: Intracellular TRPML1-3 channels TRP channels of intracellular membranes Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV.Signals from the lysosome: a control centre for cellular clearance and energy metabolism.Lysosomal physiology.Transcriptional activation of lysosomal exocytosis promotes cellular clearance.Calcium release through P2X4 activates calmodulin to promote endolysosomal membrane fusion.Ryanodine receptor antagonists adapt NPC1 proteostasis to ameliorate lipid storage in Niemann-Pick type C disease fibroblasts Phosphoinositide isoforms determine compartment-specific ion channel activity The mucolipidosis IV Ca2+ channel TRPML1 (MCOLN1) is regulated by the TOR kinase.Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV.Drosophila TRPML forms PI(3,5)P2-activated cation channels in both endolysosomes and plasma membrane.Ca(2+) channels on the move.Structural basis of dual Ca2+/pH regulation of the endolysosomal TRPML1 channel.Cyclic ADP-Ribose and NAADP in Vascular Regulation and Diseases.The role of transient receptor potential cation channels in Ca2+ signaling Emerging approaches to probing ion channel structure and function.TRP channels.Regulation of membrane trafficking by signalling on endosomal and lysosomal membranes.A New Perspective of Lysosomal Cation Channel-Dependent Homeostasis in Alzheimer's Disease.Calcium signaling in membrane repair.N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.Presenilin 1 Maintains Lysosomal Ca(2+) Homeostasis via TRPML1 by Regulating vATPase-Mediated Lysosome Acidification.The Phosphoinositide-Gated Lysosomal Ca(2+) Channel, TRPML1, Is Required for Phagosome Maturation.Mucolipidosis type IV protein TRPML1-dependent lysosome formation.The mucolipin-1 (TRPML1) ion channel, transmembrane-163 (TMEM163) protein, and lysosomal zinc handling.The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1.A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV.The first genetically confirmed Japanese patient with mucolipidosis type IV.

P2860

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P2860

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

http://www.wikidata.org/entity/Q33553835

description

2009 nî lūn-bûn

@nan

2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2009年の論文

@ja

2009年論文

@yue

2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

@zh-tw

2009年论文

@wuu

name

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

@ast

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

@en

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

@nl

type

label

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

@ast

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

@en

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

@nl

prefLabel

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

@ast

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

@en

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

@nl

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JBC.M109.037184

P1433

Journal of Biological Chemistry

P1476

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

@en

P2093

Dongbiao Shen

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

Eric Mills

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

Haoxing Xu

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

Markus Delling

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

Meiling Liu

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

Su Chen

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

Xian-ping Dong

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

Xiang Wang

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

Xiping Cheng

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

Yanbin Wang

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

P2860

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

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

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

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

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

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

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

The neurogenetics of mucolipidosis type IV

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

Transient receptor potential cation channels in disease

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32040-32052

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10.1074/JBC.M109.037184

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46

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284

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2009-07-28T00:00:00Z

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19638346

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2797275

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