Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN3
Variant:p.A419P
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MCOLN3

NM_018298.11:p.A419P

Associated Papers

Differential ion selectivity and disease-associated dysfunction of TRPML channels revealed by patient and engineered mutants.

Rue BE et al.

The Journal of Biological Chemistry, 2026

Differential modulation of polycystin-2 gain-of-function channels by cysteine-reactive compounds, amphiphilic substances, and S4-S5 linker mutations.

Geiges L et al.

The Journal of Biological Chemistry, 2025

Physiological functions and pharmacological targeting of transient receptor potential channels.

Chubanov V et al.

Pharmacological Reviews, 2025

Somatic Mutations in MCOLN3 Are Associated With Aldosterone-Producing Adenomas.

van Rooyen D et al.

Hypertension (dallas, Tex. : 1979), 2025

Lysosomal Ion Channels and Transporters: Recent Findings, Therapeutic Potential, and Technical Approaches.

Kondratskyi A et al.

Bioelectricity, 2025

Somatic Mutations in MCOLN3 in Aldosterone-Producing Adenomas cause Primary Aldosteronism.

van Rooyen D et al.

Biorxiv : the Preprint Server for Biology, 2024

Two-pore and TRPML cation channels: Regulators of phagocytosis, autophagy and lysosomal exocytosis.

Rosato AS et al.

Pharmacology & Therapeutics, 2021

The role of π-helices in TRP channel gating.

Zubcevic L et al.

Current Opinion in Structural Biology, 2019

The regulatory mechanism of mammalian TRPMLs revealed by cryo-EM.

Schmiege P et al.

The Febs Journal, 2018

Cryo-EM structures of the human endolysosomal TRPML3 channel in three distinct states.

Zhou X et al.

Nature Structural & Molecular Biology, 2017

The S4---S5 linker - gearbox of TRP channel gating.

Hofmann L et al.

Cell Calcium, 2017

Cryo-electron microscopy structure of the lysosomal calcium-permeable channel TRPML3.

Hirschi M et al.

Nature, 2017

Structural basis of dual Ca2+/pH regulation of the endolysosomal TRPML1 channel.

Li M et al.

Nature Structural & Molecular Biology, 2017

Signaling by the heavy-metal sensor CusS involves rearranged helical interactions in specific transmembrane regions.

Fung DK et al.

Molecular Microbiology, 2016

The mucolipin-2 (TRPML2) ion channel: a tissue-specific protein crucial to normal cell function.

Cuajungco MP et al.

Pflugers Archiv : European Journal of Physiology, 2016

The role of TRPMLs in endolysosomal trafficking and function.

Venkatachalam K et al.

Cell Calcium, 2015

Drosophila TRPML forms PI(3,5)P2-activated cation channels in both endolysosomes and plasma membrane.

Feng X et al.

The Journal of Biological Chemistry, 2014

TRPV5: a Ca(2+) channel for the fine-tuning of Ca(2+) reabsorption.

Na T et al.

Handbook of Experimental Pharmacology, 2014

TRPML2 and mucolipin evolution.

García-Añoveros J et al.

Handbook of Experimental Pharmacology, 2014

TRPML3.

Grimm C et al.

Handbook of Experimental Pharmacology, 2014

Role of TRPML and two-pore channels in endolysosomal cation homeostasis.

Grimm C et al.

The Journal of Pharmacology and Experimental Therapeutics, 2012

Constitutive activity of TRPML2 and TRPML3 channels versus activation by low extracellular sodium and small molecules.

Grimm C et al.

The Journal of Biological Chemistry, 2012

Expression and vesicular localization of mouse Trpml3 in stria vascularis, hair cells, and vomeronasal and olfactory receptor neurons.

Castiglioni AJ et al.

The Journal of Comparative Neurology, 2011

Membrane topology of NAADP-sensitive two-pore channels and their regulation by N-linked glycosylation.

Hooper R et al.

The Journal of Biological Chemistry, 2011

Mucolipin-3 regulates luminal calcium, acidification, and membrane fusion in the endosomal pathway.

Lelouvier B et al.

The Journal of Biological Chemistry, 2011

The TRPML3 channel: from gene to function.

Noben-Trauth K

Advances in Experimental Medicine and Biology, 2011

Genetic inactivation of Trpml3 does not lead to hearing and vestibular impairment in mice.

Jörs S et al.

Plos One, 2010

A helix-breaking mutation in the epithelial Ca(2+) channel TRPV5 leads to reduced Ca(2+)-dependent inactivation.

Lee KP et al.

Cell Calcium, 2010

Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy.

Zeevi DA et al.

Journal of Cell Science, 2010

Properties of the TRPML3 channel pore and its stable expansion by the Varitint-Waddler-causing mutation.

Kim HJ et al.

The Journal of Biological Chemistry, 2010

Mucolipins: Intracellular TRPML1-3 channels.

Cheng X et al.

Febs Letters, 2010

Small molecule activators of TRPML3.

Grimm C et al.

Chemistry & Biology, 2010

Functional multimerization of mucolipin channel proteins.

Curcio-Morelli C et al.

Journal of Cellular Physiology, 2010

Aberrant Ca2+ handling in lysosomal storage disorders.

Kiselyov K et al.

Cell Calcium, 2010

Constitutive activity of the human TRPML2 channel induces cell degeneration.

Lev S et al.

The Journal of Biological Chemistry, 2010

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

Dong XP et al.

The Journal of Biological Chemistry, 2009

The calcium channel mucolipin-3 is a novel regulator of trafficking along the endosomal pathway.

Martina JA et al.

Traffic (copenhagen, Denmark), 2009

The Ca(2+) channel TRPML3 regulates membrane trafficking and autophagy.

Kim HJ et al.

Traffic (copenhagen, Denmark), 2009

TRPMLs: in sickness and in health.

Puertollano R et al.

American Journal of Physiology. Renal Physiology, 2009

Life and death of sensory hair cells expressing constitutively active TRPML3.

Grimm C et al.

The Journal of Biological Chemistry, 2009

Molecular and cellular basis of lysosomal transmembrane protein dysfunction.

Ruivo R et al.

Biochimica Et Biophysica Acta, 2009

TRPML3 mutations cause impaired mechano-electrical transduction and depolarization by an inward-rectifier cation current in auditory hair cells of varitint-waddler mice.

van Aken AF et al.

The Journal of Physiology, 2008

The varitint-waddler mouse phenotypes and the TRPML3 ion channel mutation: cause and consequence.

Cuajungco MP et al.

Pflugers Archiv : European Journal of Physiology, 2008

The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel.

Dong XP et al.

Nature, 2008

Mitochondrial Ca2+ homeostasis in lysosomal storage diseases.

Kiselyov K et al.

Cell Calcium, 2008

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

Kim HJ et al.

The Embo Journal, 2008

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

Nagata K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008

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

Kim HJ et al.

The Journal of Biological Chemistry, 2007

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

Grimm C et al.

Proceedings of the National Academy of Sciences of the United States of America, 2007

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

Xu H et al.

Proceedings of the National Academy of Sciences of the United States of America, 2007

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