Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice.
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International Union of Basic and Clinical Pharmacology. LXXVI. Current progress in the mammalian TRP ion channel familyA novel mode of TRPML3 regulation by extracytosolic pH absent in the varitint-waddler phenotypeLife and death of sensory hair cells expressing constitutively active TRPML3The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degenerationThe role of TRPMLs in endolysosomal trafficking and functionMucolipin co-deficiency causes accelerated endolysosomal vacuolation of enterocytes and failure-to-thrive from birth to weaningRegulation of lysosomal ion homeostasis by channels and transportersRegulation of calcium signaling by polycystin-2The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channelTRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cellsCharacterization of the transcriptome of nascent hair cells and identification of direct targets of the Atoh1 transcription factorConstitutive activity of TRPML2 and TRPML3 channels versus activation by low extracellular sodium and small moleculesHeteromerization of TRP channel subunits: extending functional diversityThe VGL-Chanome: A Protein Superfamily Specialized for Electrical Signaling and Ionic HomeostasisFunction and regulation of TRPP2 ion channel revealed by a gain-of-function mutantTRP channelsA 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 miceThe micromachinery of mechanotransduction in hair cells.TRP channels as candidates for hearing and balance abnormalities in vertebrates.TRPC3 and TRPC6 are essential for normal mechanotransduction in subsets of sensory neurons and cochlear hair cells.Expression and vesicular localization of mouse Trpml3 in stria vascularis, hair cells, and vomeronasal and olfactory receptor neuronsPlasticity of mouse renal collecting duct in response to potassium depletion.Lysosomal trafficking functions of mucolipin-1 in murine macrophagesSmall molecule activators of TRPML3Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis.Constitutive activity of the human TRPML2 channel induces cell degenerationAberrant Ca2+ handling in lysosomal storage disordersMucolipins: Intracellular TRPML1-3 channelsProperties of the TRPML3 channel pore and its stable expansion by the Varitint-Waddler-causing mutation.Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagyThe calcium channel mucolipin-3 is a novel regulator of trafficking along the endosomal pathwayVaritint-waddler: a double whammy for hearing.Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1The Ca(2+) channel TRPML3 regulates membrane trafficking and autophagyThe TRP superfamily of cation channels.The sensory and motor roles of auditory hair cells.A novel ion channel formed by interaction of TRPML3 with TRPV5.Mucolipin-2 localizes to the Arf6-associated pathway and regulates recycling of GPI-APs.
P2860
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P2860
Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice.
description
2002 nî lūn-bûn
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2002 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Mutations in Mcoln3 associated ...... in varitint-waddler (Va) mice
@nl
Mutations in Mcoln3 associated ...... in varitint-waddler (Va) mice.
@ast
Mutations in Mcoln3 associated ...... in varitint-waddler (Va) mice.
@en
type
label
Mutations in Mcoln3 associated ...... in varitint-waddler (Va) mice
@nl
Mutations in Mcoln3 associated ...... in varitint-waddler (Va) mice.
@ast
Mutations in Mcoln3 associated ...... in varitint-waddler (Va) mice.
@en
prefLabel
Mutations in Mcoln3 associated ...... in varitint-waddler (Va) mice
@nl
Mutations in Mcoln3 associated ...... in varitint-waddler (Va) mice.
@ast
Mutations in Mcoln3 associated ...... in varitint-waddler (Va) mice.
@en
P2093
P2860
P3181
P356
P1476
Mutations in Mcoln3 associated ...... in varitint-waddler (Va) mice.
@en
P2093
Bechara Kachar
Federica Di Palma
Hung J Kim
Inna A Belyantseva
Konrad Noben-Trauth
Thomas F Vogt
P2860
P304
14994-14999
P3181
P356
10.1073/PNAS.222425399
P407
P577
2002-10-25T00:00:00Z