Gain-of-function mutation in TRPML3 causes the mouse Varitint-Waddler phenotype. - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q34706891

about

International Union of Basic and Clinical Pharmacology. LXXVI. Current progress in the mammalian TRP ion channel family 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 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 Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant Genetic inactivation of Trpml3 does not lead to hearing and vestibular impairment in mice The Concise Guide to PHARMACOLOGY 2013/14: ion channels 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.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 The Ca(2+) channel TRPML3 regulates membrane trafficking and autophagy A novel ion channel formed by interaction of TRPML3 with TRPV5.Mucolipin-3 regulates luminal calcium, acidification, and membrane fusion in the endosomal pathway.Membrane topology of NAADP-sensitive two-pore channels and their regulation by N-linked glycosylation.Transient receptor potential mucolipin 1 (TRPML1) and two-pore channels are functionally independent organellar ion channels TRPML: transporters of metals in lysosomes essential for cell survival?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.A yeast genetic screen reveals a critical role for the pore helix domain in TRP channel gating Multiple unbiased prospective screens identify TRP channels and their conserved gating elements Mitochondrial Ca2+ homeostasis in lysosomal storage diseases.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 Drosophila TRPML forms PI(3,5)P2-activated cation channels in both endolysosomes and plasma membrane.In with the TRP channels: intracellular functions for TRPM1 and TRPM2.Structural basis of dual Ca2+/pH regulation of the endolysosomal TRPML1 channel.Progressive degeneration of dopaminergic neurons through TRP channel-induced cell death.The role of transient receptor potential cation channels in Ca2+ signaling

P2860

Q24623493-5CFC8A43-A278-43F4-8DCC-F04F36D3301D Q24646638-DC891908-65D5-4072-9B64-72638120B993 Q24647910-566A4766-A99E-46AF-9EE2-AB2A4D3EF91C Q26864223-F20DF809-E53A-4877-946C-8834B9879A61 Q27311633-D3B89A09-E581-4B0E-9858-86F6396BDDF2 Q28069327-346F336D-2DDD-4CFE-AC02-4A66129F0E80 Q28727456-26A0DAE4-290F-49AE-92FD-0619F912303E Q29147455-EBC68D16-4AF8-4DF7-AE0C-BF064D054A21 Q30478058-08F21167-D3AC-4B69-941F-D7D43EE1C6DB Q30486735-AA71F303-A2D0-4144-B632-1F273ADB877F Q30584468-5A798183-31C7-490B-A017-D3DB5D4F6EF6 Q33535026-97F97CEE-D684-475B-80BF-7DB5070E22DD Q33553835-C99A5B81-B422-4409-98B0-51C5A4CF433A Q33594064-692EE1F3-5B1B-40C2-98F3-229F5883C120 Q33727058-4B1EA9E7-7CBA-4CA1-8E08-196B4A5C93BF Q33838349-276FD162-8A01-4E00-B674-B0D5CD0804A0 Q33883232-B858D5D6-4868-46F1-87CF-428D0BECC8CB Q34001734-002C6A11-07F1-4C92-83B0-1CBA21DD729D Q34098441-E420F685-6927-4CB0-99BB-CD88C7BF7281 Q34204293-015975A6-CE4A-4C7D-837A-6E66A7475462 Q34359731-A4E21E1D-48B9-4B0E-A842-E344FF0573F3 Q34612858-009A26A4-A6F4-4B26-8C18-5B4F9AB49E1D Q34684771-8C3626FE-4532-4933-9A72-CE1F7B292C67 Q34685254-620A2146-A370-468A-99EB-FCA9CE333C97 Q35067713-E329C1D3-36B6-4AB7-8453-6602AE4536D7 Q35190170-DCADD5FA-DE5F-4364-98BD-7741985E9FCB Q36126724-6E5F6CA9-4630-44C3-83F4-CA7DC57CCE65 Q36430235-9F348D00-BEAA-472B-A2A5-93FE0ECC86A3 Q36470745-1661F491-461A-4BC1-A445-60433C7C01F5 Q36710217-C64C58F3-ED59-42E8-8DB6-96FF485D8DE9 Q36946675-50F8F446-A8DB-4495-8021-7C273539A5D3 Q37074786-70EDBD54-0B78-4A8A-9F9F-3A2E9AF04595 Q37139035-B3047398-C3A7-47D0-9E81-2F6AF7C4938F Q37216903-91EE39CA-C432-4C8C-AFFF-6AE60684BAEE Q37323994-AE092FE7-21C1-4437-BD19-43F80135A22F Q37583534-DC8C31CF-EF39-4F7D-8088-AEEF2CDFAC11 Q37627045-12CC6B50-E4EF-4239-99AE-7C6A984C4C14 Q37679973-36AEA94D-A014-4435-8E2F-DD75B7E761EE Q37717607-6B18A642-2A62-42C3-8F1E-3E9CC3481426 Q37791280-B0A54460-81AB-45D0-9974-5E4AF116A28B

P2860

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

http://www.wikidata.org/entity/Q34706891

description

2007 nî lūn-bûn

@nan

2007 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2007年の論文

@ja

2007年論文

@yue

2007年論文

@zh-hant

2007年論文

@zh-hk

2007年論文

@zh-mo

2007年論文

@zh-tw

2007年论文

@wuu

name

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

@ast

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

@en

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

@nl

type

label

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

@ast

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

@en

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

@nl

prefLabel

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

@ast

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

@en

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

@nl

P1433

Q34706891-095939C9-20B2-4AAC-A668-2173503878D7

P1476

Q34706891-9E37E481-BD58-4AE4-A5B8-5B931960A8E0

P2093

Q34706891-45B4B380-79F6-4626-A64B-BDE14697AC48

Q34706891-470F379A-AC72-42C9-B252-42352DA78A57

Q34706891-68C940BA-E1B5-477A-BCDE-A520A33BEA11

Q34706891-A3B2DB34-0382-4512-85F6-BA9D3E5E3390

Q34706891-B36F54C4-602B-4F18-B41E-A5AF19ABE729

Q34706891-F352CAFD-98F6-4FD6-88F2-BC69E19C69A1

P2860

Q34706891-0135C858-516B-4EC1-A2F1-71FF967FF567

Q34706891-2E81A853-4C9B-403C-BABD-FC15129D880C

Q34706891-8B2ED7DF-4C1B-448B-9252-9F9C8EC3D53A

Q34706891-A1AA817A-C986-4196-8DAD-58046DA49824

Q34706891-AE7A9DCE-5BD9-4E0A-94F1-3A8558B92DF8

Q34706891-B0A97831-BA5A-45BD-AE09-E2DA4FB468F6

Q34706891-B3FF40E4-BAAC-4869-8924-8B87EB67E43B

Q34706891-BA2F1D7F-E106-4CDF-BB7A-66FF76C942C0

Q34706891-D869BF3F-027C-4550-8818-4E852EAB549E

P304

Q34706891-6EDA047E-B1C9-4106-958F-205E1AA270BA

P31

Q34706891-442DD744-93FE-45C6-8DAD-8439022087CE

P356

Q34706891-8439EE6C-36C8-4057-BC40-13B390612F0D

P407

Q34706891-5FEF907D-2C19-4E15-810B-0C27E725CB53

P433

Q34706891-AEEF0BA0-E60C-4E0E-B7CE-321C87733A80

P478

Q34706891-7A2186F8-C707-4B3F-A813-A236B498E30A

P577

Q34706891-F0E278FF-273F-4E28-BDF2-21A5A75F6925

P698

Q34706891-738EE534-21FE-48EA-AE48-930C517CD322

P356

P1433

Journal of Biological Chemistry

P1476

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

@en

P2093

Hyun Jin Kim

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

Insuk So

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

Kirill Kiselyov

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

Qin Li

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

Sandra Tjon-Kon-Sang

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

Shmuel Muallem

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

P2860

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

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

On the distribution of amino acid residues in transmembrane alpha-helix bundles

TRP channels: an overview.

TRPML3 and hearing loss in the varitint-waddler mouse.

Local interactions in protein folding: lessons from the alpha-helix.

Identification of the gene causing mucolipidosis type IV.

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

P304

36138-36142

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

P31

scholarly article

P356

10.1074/JBC.C700190200

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

P407

P433

50

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

P478

282

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

P577

2007-10-25T00:00:00Z

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

P698

17962195

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