Affinage

MCOLN1

Mucolipin-1 · UniProt Q9GZU1

Audit flag: ungrounded claim
Length
580 aa
Mass
65.0 kDa
Annotated
2026-06-10
100 papers in source corpus 41 papers cited in narrative 38 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

MCOLN1 (TRPML1) is a late-endosomal/lysosomal non-selective cation channel that couples lysosomal ion flux to membrane trafficking, autophagy, and organelle homeostasis (PMID:18794901, PMID:19638346). It conducts Ca2+, Fe2+/Mn2+, Zn2+, and (in some studies) H+, and its loss perturbs lysosomal lipid hydrolysis, pH, iron, and zinc handling, defining the cellular basis of its trafficking and storage defects (PMID:18794901, PMID:16361256, PMID:25119295, PMID:20864526, PMID:23368743). The channel is gated by the lysosomal phosphoinositide PtdIns(3,5)P2, which binds an allosteric site on extended S1–S3 helices and drives a Y355–R403 π-cation interaction to open the pore, whereas PtdIns(4,5)P2 binds the same site and inhibits; cryo-EM structures in closed and agonist-bound open states define a distinct hydrophobic agonist/antagonist cavity (S5/S6/PH1) and a luminal acidic Ca2+/pH-sensing region (PMID:29019981, PMID:29019983, PMID:30305615, PMID:34171299). Activity is further set by multiple inputs: cathepsin B cleavage at Arg200–Pro201, TOR-mediated inhibitory phosphorylation, tonic LAMTOR1 binding, ROS, luminal adenosine, and AKT phosphorylation that stabilizes the channel against ubiquitin-dependent degradation (PMID:16257972, PMID:26195823, PMID:35099830, PMID:28087698, PMID:38424427, PMID:27357649). TRPML1-mediated Ca2+ efflux is the central output, triggering calcineurin–TFEB-driven autophagy and lysosome biogenesis, CaMKKβ/AMPK/VPS34-dependent autophagosome biogenesis, calmodulin-dependent lysosome fission, MTORC1 reactivation, and SNARE-controlled autophagosome–lysosome and phagosome–lysosome fusion (PMID:27357649, PMID:31822666, PMID:28360104, PMID:29460684, PMID:26010303, PMID:33890549, PMID:39433126). Through inter-organelle contacts it transfers Ca2+ to mitochondria via VDAC1/MCU and to the sarcoplasmic reticulum RyR2 to initiate Ca2+ sparks in vascular smooth muscle, and it functionally couples to ER STIM1 (PMID:32703809, PMID:32576680, PMID:33199609, PMID:31341250, PMID:33484198). Its metal-ion output additionally governs iron homeostasis and ferroptosis resistance through an AKT–TRPML1–ARL8B lysosomal-exocytosis axis and restrains NF-κB-driven IL-1β transcription via Fe2+-dependent PHD activation (PMID:38424427, PMID:39856099). Loss-of-function mutations that impair channel activity underlie mucolipidosis type IV, and small-molecule agonists rescue trafficking and lysosomal metal-accumulation defects in patient fibroblasts (PMID:18794901, PMID:25119295).

Mechanistic history

Synthesis pass · year-by-year structured walk · 17 steps
  1. 2005 High

    Established the first functional and regulatory framework for the channel by showing it conducts H+ and monovalent cations and is post-translationally controlled, linking its activity directly to lysosomal acidification and lipid hydrolysis.

    Evidence Lysosomal pH and lipase assays plus genetic/pharmacological rescue in MLIV patient cells; whole-lysosome patch-clamp with cathepsin B cleavage mapping and co-IP

    PMID:16257972 PMID:16361256

    Open questions at the time
    • H+ permeability later disputed by a proton-impermeable characterization
    • physiological trigger for cathepsin B cleavage in vivo not defined
  2. 2006 Medium

    Defined the channel's oligomeric behavior, showing it forms homo- and heteromultimers with TRPML2/3 and dictates the lysosomal targeting of TRPML3.

    Evidence Co-IP and colocalization microscopy with targeting-mutant co-expression

    PMID:16606612

    Open questions at the time
    • functional consequence of heteromultimerization for channel gating untested
    • stoichiometry of native complexes unknown
  3. 2008 High

    Resolved a key permeant species by demonstrating Fe2+ conductance and linking disease-mutation severity to graded loss of iron permeation, explaining lysosomal iron storage.

    Evidence Direct lysosomal patch-clamp, radiolabelled iron flux, and cytosolic/intralysosomal iron monitoring in patient fibroblasts

    PMID:18794901

    Open questions at the time
    • relative physiological contribution of Fe2+ vs Ca2+ flux not quantified
    • downstream iron-dependent signaling not addressed here
  4. 2009 High

    Defined permeation selectivity and gating by isolating constitutively active S5 mutants, showing Ca2+ release drives lysosomal exocytosis and surface LAMP-1.

    Evidence Proline-scanning mutagenesis with whole-cell/lysosomal patch-clamp and LAMP-1 surface staining

    PMID:19638346

    Open questions at the time
    • proton impermeability contradicts earlier H+ channel report
    • endogenous gating trigger not identified in this study
  5. 2010 Medium

    Extended the channel's ion repertoire and physiology by linking it to lysosomal zinc handling and to gastric acid secretion via parietal-cell tubulovesicle trafficking.

    Evidence siRNA/KO with fluorometric zinc and ICP-MS; Trpml1-/- mouse gastric secretion, palmitoylation/phosphorylation analysis and EM

    PMID:20864526 PMID:21111738 PMID:23368743

    Open questions at the time
    • direct Zn2+ permeation through the channel vs indirect transporter effects not fully separated
    • mechanism coupling palmitoylation to channel function unresolved
  6. 2011 Medium

    Clarified relationships with other endolysosomal channels, showing physical but functionally independent association with TPCs while ortholog studies linked the channel to NAADP-evoked Ca2+ release and autophagic degradation.

    Evidence Reciprocal co-IP, colocalization, patch-clamp and Ca2+ imaging in KO cells; C. elegans CUP-5 genetics and lysosomal reconstitution

    PMID:21540176 PMID:21613607 PMID:21997367

    Open questions at the time
    • NAADP responsiveness is contradictory between cell types/labs
    • molecular basis of TRPML1-TPC association not defined
  7. 2012 Medium

    Connected channel loss to cell death by placing acute TRPML1 loss upstream of cathepsin B leak and Bax-dependent apoptosis.

    Evidence siRNA knockdown with cathepsin B localization/activity assays and CatB/Bax inhibitor dissection

    PMID:22262857

    Open questions at the time
    • mechanism by which channel loss triggers membrane permeabilization unclear
    • acute knockdown phenotype may differ from chronic disease state
  8. 2015 High

    Established PtdIns(3,5)P2 as the activating ligand controlling membrane fusion and showed TOR phosphorylation as a direct inhibitory input regulating autophagy.

    Evidence PIKfyve epistasis with phagosome-lysosome fusion and Ca2+ rescue; in vitro kinase assay with phosphosite mutagenesis and channel/autophagy readouts

    PMID:26010303 PMID:26195823

    Open questions at the time
    • TOR phosphosite study is Medium confidence single-lab
    • precise residues and kinase specificity for TOR phosphorylation not structurally mapped
  9. 2017 High

    Defined multiple physiological activators and partners, establishing ROS-triggered Ca2+ release driving TFEB/autophagy, LAMTOR1 as a tonic inhibitor, sphingosine/ER-STIM1 coupling, and calmodulin-dependent lysosome fission.

    Evidence GCaMP3-ML1 Ca2+ imaging, genetic KO/knockdown, co-IP, and pharmacological dissection across cell types

    PMID:27357649 PMID:28087698 PMID:28360104 PMID:31341250 PMID:33484198 PMID:35099830

    Open questions at the time
    • several upstream activators tested in distinct systems; integration in a single cell unclear
    • how ROS chemically modifies the channel not defined
  10. 2017 High

    Provided the first atomic-resolution framework by solving cryo-EM structures in closed and agonist-bound open states and locating the PtdIns(3,5)P2 site distal to the pore.

    Evidence Single-particle cryo-EM of mouse and human channel with mutagenesis/electrophysiology

    PMID:29019981 PMID:29019983

    Open questions at the time
    • physiological gating transitions in native lysosomal membranes not directly observed
    • structural basis of Fe2+/Zn2+ selectivity not resolved
  11. 2018 High

    Refined the lipid-gating mechanism (Y355–R403 π-cation, opposing PtdIns(4,5)P2 inhibition) and embedded the channel in an MTORC1 negative-feedback loop activated by starvation.

    Evidence Ligand-bound cryo-EM with electrophysiology; pharmacological/genetic perturbation with calmodulin inhibition and S6K readout

    PMID:29460684 PMID:30305615

    Open questions at the time
    • how PtdIns(4,5)P2 reaches the lysosomal-facing site physiologically unclear
    • feedback-loop study is Medium confidence single-lab
  12. 2019 Medium

    Diversified the channel's downstream outputs, defining a TFEB-independent CaMKKβ/AMPK/VPS34 autophagosome-biogenesis pathway, MVB/exosome control via acid ceramidase, and a cholesterol-transport role sustaining oncogenic HRAS nanoclustering.

    Evidence PI3P and phagophore-recruitment assays with kinase inhibition; Ca2+ imaging with sphingolipid manipulation; cholesterol and HRAS nanoclustering analysis in mutant cells

    PMID:30787043 PMID:31268777 PMID:31822666

    Open questions at the time
    • cholesterol and exosome roles single-lab Medium confidence
    • directness of TRPML1 in cholesterol de-esterification not established
  13. 2020 High

    Established inter-organelle Ca2+ signaling roles by showing channel-mediated Ca2+ transfer to mitochondria (VDAC1/MCU) and SR RyR2-dependent Ca2+ spark initiation controlling vascular tone and blood pressure.

    Evidence Super-resolution live-cell microscopy, KO mice, pressure myography and radiotelemetry; patient-fibroblast contact dynamics

    PMID:32576680 PMID:32703809 PMID:33199609

    Open questions at the time
    • tethering machinery at mitochondria-lysosome contacts not fully identified
    • tissue-specificity of RyR2 coupling beyond smooth muscle untested
  14. 2021 High

    Resolved the antagonist binding mode and uncovered a divalent-ion output controlling SNARE-mediated fusion, showing ML-SI3 occupies the agonist cavity and Zn2+ release blocks STX17-VAMP8 pairing.

    Evidence Cryo-EM with ML-SI3 plus patch-clamp; SNARE co-IP with lysosomal zinc measurement and autophagy flux

    PMID:33890549 PMID:34171299

    Open questions at the time
    • antagonist study High confidence; zinc-SNARE mechanism Medium single-lab
    • apparent opposing effects of activation on fusion across studies need reconciliation
  15. 2022 High

    Defined cooperative dual-ligand gating and additional Ca2+-dependent outputs, showing PI(3,5)P2 and rapamycin synergize at distinct sites and that ROS/CaMK2G-JIP4 signaling drives retrograde lysosome transport.

    Evidence Multi-state cryo-EM with electrophysiology; phosphosite mutagenesis, CaMK2G inhibition and lysosomal positioning/autophagy assays; NK-cell KO mitochondrial phenotyping

    PMID:35131932 PMID:36394115 PMID:37737664

    Open questions at the time
    • physiological relevance of rapamycin-analog synergy unclear
    • JIP4 and NK-cell roles Medium confidence single-lab
  16. 2024 High

    Connected channel regulation to ferroptosis and membrane repair, showing AKT phosphorylation at Ser343 stabilizes the channel and ARL8B-dependent lysosomal exocytosis lowers iron and confers ferroptosis resistance.

    Evidence In vitro AKT kinase assay, phosphosite/ubiquitination mutagenesis, TRPML1-ARL8B co-IP, exocytosis and ferroptosis assays with xenografts

    PMID:38424427

    Open questions at the time
    • generality beyond AKT-hyperactivated cancers untested
    • competition between Ser343 and other regulatory inputs in vivo unknown
  17. 2025 High

    Extended the channel's iron output to inflammatory control, showing Fe2+ release activates PHD enzymes that repress NF-κB and suppress IL-1β transcription in macrophages.

    Evidence Agonist/antagonist and KO macrophages with Fe2+/PHD/NF-κB readouts and an in vivo colitis model

    PMID:39856099

    Open questions at the time
    • direct PHD substrate engagement by cytosolic Fe2+ not structurally shown
    • balance between pro- and anti-inflammatory iron effects in different cells unclear

Open questions

Synthesis pass · forward-looking unresolved questions
  • How the diverse, sometimes opposing outputs of a single channel (Ca2+, Fe2+, Zn2+, H+ flux promoting versus inhibiting autophagosome-lysosome fusion) are integrated, prioritized, and spatially partitioned in native lysosomes remains unresolved.
  • conflicting reports on whether activation promotes or blocks autophagic flux
  • no unified model linking ion-species selection to specific downstream cascade
  • physiological vs pharmacological activation regimes not reconciled

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005215 transporter activity 4 GO:0008289 lipid binding 2 GO:0140299 molecular sensor activity 1
Localization
GO:0005764 lysosome 5 GO:0005768 endosome 3 GO:0005783 endoplasmic reticulum 2 GO:0005886 plasma membrane 2
Pathway
R-HSA-9612973 Autophagy 4 R-HSA-1430728 Metabolism 3 R-HSA-162582 Signal Transduction 3 R-HSA-168256 Immune System 3 R-HSA-5653656 Vesicle-mediated transport 3
Partners
ARL8BLAMTOR1MCURYR2STIM1TMEM163TPC2VDAC1
Complex memberships
TRPML1-RyR2 ER/SR-lysosome complexTRPML1/TRPML2/TRPML3 heteromultimer

Evidence

Reading pass · 38 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2008 TRPML1 functions as a Fe2+-permeable channel in late endosomes and lysosomes, mediating iron release into the cytosol. ML4 disease mutations impair Fe2+ permeation at varying degrees correlating with disease severity. Loss of TRPML1 reduces cytosolic Fe2+ and increases intralysosomal Fe2+ accumulation. Radiolabelled iron uptake assays, cytosolic and intralysosomal iron monitoring, direct patch-clamping of late endosomal/lysosomal membrane, comparison of TRPML1-/- vs. control human fibroblasts Nature High 18794901
2005 TRP-ML1 can function as a H+ channel and its loss leads to lysosomal over-acidification in MLIV patient cells, reducing acidic lipase activity. Expression of TRP-ML1 rescues lipid hydrolysis, and dissipation of lysosomal pH reverses storage phenotype. Lysosomal pH measurement in TRP-ML1-/- patient cells, lipase activity assay with multiple substrates, cell fractionation, rescue by TRP-ML1 expression and pH-dissipating drugs The Journal of biological chemistry High 16361256
2005 TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage by cathepsin B at Arg200-Pro201; cleavage inhibits channel activity. N- and C-terminal fragments are co-immunoprecipitated. The R200H disease mutation alters this cleavage pattern. Electrophysiology (whole-lysosome/planar patch-clamp), co-immunoprecipitation, N-terminal sequencing of purified C-terminal fragment, cathepsin B inhibitor treatment, CatB-/- cell expression The Journal of biological chemistry High 16257972
2006 TRPML1 forms homo- and heteromultimers with TRPML2 and TRPML3. TRPML1 and TRPML2 homomultimers are lysosomal, while TRPML3 homomultimers are in the ER. The presence of TRPML1 or TRPML2 specifically dictates lysosomal localization of TRPML3, but not vice versa. Co-immunoprecipitation, subcellular localization by fluorescence microscopy, co-expression studies with lysosomal targeting-disrupted mutants The Journal of biological chemistry Medium 16606612
2009 Proline scanning mutagenesis revealed gain-of-function constitutive activating mutations in the S5 transmembrane domain of TRPML1 (e.g., V432P). TRPML1 is an inwardly rectifying, proton-impermeable, Ca2+ and Fe2+/Mn2+ permeable channel; constitutive Ca2+ release from lysosomes promotes lysosomal exocytosis and surface expression of LAMP-1. Systematic proline-substitution mutagenesis, whole-cell and lysosomal patch-clamp electrophysiology, LAMP-1 surface staining The Journal of biological chemistry High 19638346
2011 TRPML1 co-immunoprecipitates with TPC2 and shows near-complete colocalization with TPC2 on endolysosomes, but electrophysiology shows TPC1/TPC2 do not affect TRPML1 channel activity, and TRPML1 does not mediate NAADP-evoked Ca2+ signals — TRPML1 and TPCs are physically associated but functionally independent organellar ion channels. Co-immunoprecipitation, colocalization microscopy, whole-cell and whole-lysosome patch-clamp electrophysiology, Ca2+ imaging in TRP-ML1-/- cells The Journal of biological chemistry High 21540176
2011 CUP-5, the C. elegans ortholog of TRPML1, localizes to lysosomes and is required for proteolytic degradation in autolysosomes; cup-5 mutations cause accumulation of autophagy substrates in enlarged late endosomal/lysosomal vacuoles, and reduced autophagy activity partially suppresses cup-5 mutant defects. Genetic epistasis analysis, fluorescence microscopy with organelle markers, immunoprecipitation, genetic suppressor analysis in C. elegans Autophagy Medium 21997367
2016 ROS directly and specifically activate lysosomal TRPML1 channels, inducing lysosomal Ca2+ release. This Ca2+ release triggers calcineurin-dependent TFEB nuclear translocation, autophagy induction, and lysosome biogenesis. Genetic inactivation or pharmacological inhibition of TRPML1 blocks clearance of damaged mitochondria and removal of excess ROS. GCaMP3-ML1 Ca2+ imaging, pharmacological ROS manipulation, TRPML1 genetic knockout and inhibition, TFEB nuclear translocation assay, autophagy flux assays, mitochondrial damage assays Nature communications High 27357649
2017 Cryo-EM structure of mouse TRPML1 in nanodiscs reveals that PtdIns(3,5)P2 binds to the N-terminus distal from the pore; an S2-S3 helix-turn-helix extension couples ligand binding to pore opening; the selectivity filter contains multiple ion-binding sites; conserved acidic residues form a luminal Ca2+-blocking site conferring pH and Ca2+ modulation; a luminal linker domain canopy creates a negative electrostatic trap for divalent cations. Single-particle cryo-EM structure determination, mutagenesis combined with electrophysiology Nature High 29019981
2017 Cryo-EM structures of full-length human TRPML1 in apo (closed, pH 7.0) and agonist-bound (open, pH 6.0) states reveal that channel opening involves dilation of the lower gate and movement of pore helix 1; the agonist binds a hydrophobic cavity formed by S5, S6, and pore helix 1, distinct from TRPV1 agonist sites. Single-particle cryo-EM at 3.72 Å (closed) and 3.49 Å (open) resolution, structural comparison Nature High 29019983
2018 Cryo-EM structures of human TRPML1 with PtdIns(3,5)P2 and PtdIns(4,5)P2 reveal a unique lipid-binding site on extended helices S1, S2, and S3. PtdIns(3,5)P2 induces Y355 to form a π-cation interaction with R403, moving the S4-S5 linker to allosterically activate the channel. PtdIns(4,5)P2 binds the same site but inhibits channel activity. Cryo-EM structure determination at pH 5.0 with bound lipids and ML-SA1, electrophysiological characterization Nature communications High 30305615
2022 Cryo-EM structures of mouse TRPML1 in apo-closed, PI(3,5)P2-bound closed, and PI(3,5)P2/temsirolimus(rapamycin analog)-bound open states reveal that PI(3,5)P2 and rapamycin bind distinct sites and work cooperatively; the structures elucidate the allosteric mechanism for synergistic channel activation. Cryo-EM structure determination in multiple states, electrophysiology Proceedings of the National Academy of Sciences of the United States of America High 35131932
2021 Cryo-EM structure of human TRPML1 with antagonist ML-SI3 at 2.9 Å shows ML-SI3 binds the same hydrophobic cavity (S5, S6, PH1) as agonist ML-SA1; electrophysiology confirms ML-SI3 competes with ML-SA1 but does not inhibit PI(3,5)P2-dependent activation. Cryo-EM structure determination, whole-lysosome patch-clamp electrophysiology Structure High 34171299
2015 TRPML1 is a PtdIns(3,5)P2-gated lysosomal Ca2+ channel required for phagosome-lysosome fusion. Silencing TRPML1 causes lysosomes to dock but not fuse with phagosomes, impairing bactericidal capacity. PIKfyve generates PtdIns(3,5)P2 to activate TRPML1, raising cytosolic Ca2+ during phagocytosis; forced Ca2+ release rescues fusion in TRPML1-silenced cells. TRPML1 siRNA knockdown, phagocytosis assay with lysosomal marker acquisition, isolated phagosome analysis by electron microscopy, Ca2+ imaging, ionomycin rescue Traffic High 26010303
2015 TOR kinase directly phosphorylates TRPML1, inactivating its channel activity and suppressing autophagy. Mutation of the TOR phosphorylation sites to unphosphorylatable residues blocks TOR regulation of TRPML1. In vitro kinase assay, phosphorylation site mutagenesis, channel activity recordings, autophagy flux assays The Biochemical journal Medium 26195823
2018 Starvation activates MCOLN1 by relieving MTORC1's inhibition of the channel; activated MCOLN1 in turn facilitates MTORC1 reactivation through a calmodulin-dependent mechanism, constituting a negative feedback loop that prevents excessive MTORC1 inhibition during prolonged starvation. Pharmacological activation/inhibition of MCOLN1 and MTORC1, calmodulin inhibition, Ca2+ chelation, MTORC1 activity assays (S6K phosphorylation), MCOLN1 knockdown/knockout Autophagy Medium 29460684
2019 TRPML1 activation induces autophagosome biogenesis through a TFEB-independent pathway requiring CaMKKβ and AMPK, which activate ULK1 and VPS34 complexes and generate PI3P. MLIV patient cells show reduced PI3P-binding protein recruitment to phagophores. PI3P generation assay, phagophore recruitment of PI3P-binding proteins, CaMKKβ/AMPK inhibition, ULK1/VPS34 complex activation assays, TFEB knockout, patient cell analysis Nature communications High 31822666
2014 TRPML1 mutant isoforms (F465L, F408Δ) show strongly reduced activation by PtdIns(3,5)P2 but can be activated by synthetic ligands. F465L renders TRPML1 pH-insensitive; F408Δ impacts synthetic ligand binding. Small-molecule activators rescue trafficking defects and lysosomal zinc accumulation in MLIV patient fibroblasts. Whole-lysosome planar patch-clamp, pharmacological activation with synthetic ligands, trafficking assay, zinc accumulation assay in patient fibroblasts Nature communications High 25119295
2010 TRPML1-deficient cells and Mcoln1-/- mouse brain show elevated chelatable zinc levels. siRNA knockdown of TRPML1 causes lysosomal zinc accumulation; TRPML1 loss delays zinc leak from lysosomes to cytoplasm and is associated with elevated MTF-1-dependent transcription. ZnT4 knockdown ameliorates the lysosomal enlargement phenotype in TRPML1-KD cells exposed to zinc. siRNA knockdown, fluorometric zinc quantification, ICP-MS of brain tissue, lysosomal zinc staining, MTF-1 and ZnT4 co-knockdown The Biochemical journal / The Journal of biological chemistry Medium 20864526 23368743
2014 TMEM163 protein (a putative zinc transporter) is a novel interacting partner for TRPML1, confirmed by yeast two-hybrid, co-immunoprecipitation, mass spectrometry, and colocalization microscopy. Interaction requires part of TMEM163's N-terminus. Co-expression of TMEM163 does not alter TRPML1 channel activity, but TRPML1 co-expression reduces TMEM163 at the plasma membrane. Yeast two-hybrid, co-immunoprecipitation, mass spectrometry, confocal colocalization, subcellular localization analysis Traffic Medium 25130899
2020 Mitochondria-lysosome contact sites facilitate Ca2+ transfer from lysosomes to mitochondria through TRPML1 lysosomal Ca2+ efflux. This transfer is mediated by tethering at contact sites and requires VDAC1 (outer mitochondrial membrane) and MCU (inner mitochondrial membrane). MLIV patient fibroblasts show altered contact dynamics and defective contact-dependent mitochondrial Ca2+ uptake. High spatial/temporal resolution live-cell microscopy, TRPML1 agonist stimulation, VDAC1/MCU inhibition, MLIV patient fibroblast analysis, contact site dynamics quantification Proceedings of the National Academy of Sciences of the United States of America High 32703809
2017 TRPML1-mediated lysosomal Ca2+ release activates calmodulin (CaM) to promote lysosome fission, reducing lysosomal size. TRPML1 activation suppresses enlarged vacuoles induced by vacuolin-1 or P2X4; effects are abolished by Ca2+ chelation or CaM inhibition. Pharmacological TRPML1 activation, Ca2+ chelation, CaM inhibition, lysosome size quantification by fluorescence microscopy The Journal of biological chemistry Medium 28360104
2010 Loss of TRPML1 in Trpml1-/- mice causes impaired gastric acid secretion associated with dynamic palmitoylation and dephosphorylation of Trpml1 in parietal cells upon histamine stimulation, mislocalization of the gastric proton pump, and enlarged/dysfunctional secretory canaliculi. TRPML1 is required for tubulovesicle formation and trafficking in parietal cells. Gene-targeted Trpml1-/- mouse model, gastric acid secretion measurement, biochemical analysis of palmitoylation/phosphorylation, immunohistochemistry, electron microscopy of parietal cells Gastroenterology High 21111738
2017 LAMTOR1, a subunit of the Ragulator complex, directly interacts with TRPML1 through its N-terminal domain and tonically inhibits TRPML1 channel activity independently of mTORC1. Disrupting LAMTOR1-TRPML1 binding increases TRPML1-mediated Ca2+ release, facilitates dynein-powered dendritic lysosomal trafficking, and alters synaptic plasticity and memory via calcineurin-dependent GluA1 dephosphorylation. Co-immunoprecipitation, LAMTOR1 deletion in hippocampal neurons, TRPML1 Ca2+ imaging, lysosomal trafficking assays, electrophysiology for synaptic plasticity, behavioral tests The EMBO journal High 35099830
2012 Acute siRNA-mediated loss of TRPML1 causes lysosomal cathepsin B (CatB) leak into the cytoplasm, leading to apoptosis that is prevented by CatB inhibition. Bax inhibition prevents apoptosis but not cytosolic CatB release, placing TRPML1 upstream of CatB release and Bax-dependent apoptosis. siRNA knockdown of TRPML1, cathepsin B localization/activity assay, apoptosis assay, CatB inhibitor and Bax inhibitor treatment The Journal of biological chemistry Medium 22262857
2019 TRPML1 maintains oncogenic HRAS in signaling-competent nanoclusters at the plasma membrane by mediating cholesterol de-esterification and transport from endolysosomes. TRPML1 inhibition disrupts cholesterol distribution, reduces HRAS nanoclustering and plasma membrane abundance, and attenuates ERK phosphorylation and cell proliferation selectively in HRAS-mutant cancer cells. MCOLN1 knockdown, TRPML1 pharmacological inhibition, cholesterol distribution assay, HRAS nanoclustering analysis, ERK phosphorylation, cell proliferation assays in HRAS mutant vs. wild-type cells EMBO reports Medium 30787043
2019 TRPML1 mediates lysosomal Ca2+ release that controls lysosome-multivesicular body (MVB) interaction and exosome release in podocytes. Acid ceramidase (AC)-generated sphingosine activates TRPML1-mediated Ca2+ release; AC inhibition or TRPML1 blockade suppresses lysosome-MVB interaction, increasing exosome release. GCaMP3 Ca2+ imaging, Port-a-Patch planar patch-clamp, pharmacological manipulation of sphingolipid pathway, structured illumination microscopy, nanoparticle tracking analysis American journal of physiology. Cell physiology Medium 31268777
2020 TRPML1 channels in late endosomes/lysosomes form stable nanoscale complexes with type 2 ryanodine receptors (RyR2) on the sarcoplasmic reticulum in vascular smooth muscle cells. TRPML1-mediated lysosomal Ca2+ release initiates Ca2+ sparks through RyR2 activation; loss of TRPML1 abolishes Ca2+ sparks, impairs Ca2+-activated K+ channel activity, causes vasoconstriction, and results in spontaneous hypertension in Mcoln1-/- mice. Superresolution nanoscale microscopy, TRPML1 KO mouse, live-cell confocal imaging, ex vivo pressure myography, radiotelemetry blood pressure measurement, Ca2+ spark imaging Science signaling High 32576680 33199609
2021 TRPML1 activation inhibits autophagic flux by mediating lysosomal zinc release into the cytosol, which blocks the interaction between STX17 on autophagosomes and VAMP8 on lysosomes, thereby disrupting autophagosome-lysosome fusion. Co-immunoprecipitation of STX17 and VAMP8, lysosomal zinc measurement, TRPML1 agonist treatment, SNARE interaction assay, autophagy flux assay Autophagy Medium 33890549
2017 TRPML1 co-immunoprecipitates with ER Ca2+ sensor STIM1 in motor neurons and co-localizes with LAMP1 and ER. STIM1 is required for TRPML1-mediated Ca2+ release; in STIM1-deficient neurons, ML-SA1 and PI(3,5)P2 fail to induce lysosomal Ca2+ release. SERCA inhibition increases TRPML1-mediated Ca2+ efflux, indicating ER-lysosome Ca2+ interplay. Co-immunoprecipitation, GCaMP3-ML1 Ca2+ imaging, STIM1 knockdown, pharmacological (thapsigargin, ML-SA1), colocalization microscopy Scientific reports / FASEB journal Medium 31341250 33484198
2011 In the C. elegans model, NAADP activates TRP-ML1 channel activity in reconstituted lysosomal preparations from wild-type but not TRPML1-/- cells; NAADP-induced Ca2+ release and enhanced endosome-lysosome interaction are abolished in TRPML1-/- cells and restored by TRPML1 gene rescue. Lysosomal channel reconstitution, Ca2+ fluorescence imaging, confocal microscopy of endosome-lysosome dynamics, TRPML1 gene rescue in knockout cells American journal of physiology. Cell physiology Medium 21613607
2018 TLR3 stimulation triggers lysosomal ATP release from astrocytes and RPE cells through TRPML1-mediated Ca2+ signaling; TRPML1 activation (ML-SA1) alone is sufficient to release lysosomal ATP and acid phosphatase; ATP release is abolished in TRPML1-/- cells and reduced by TBK-1 blockade. TRPML1-/- cells, ML-SA1 pharmacological activation, ATP release assay, lysosomal enzyme release assay, Ca2+ imaging Scientific reports Medium 29636491
2022 Oxidative stress-induced phosphorylation of JIP4 at T217 by CaMK2G in response to TRPML1-mediated Ca2+ fluxes promotes lysosomal retrograde transport (clustering around MTOC) via a JIP4-TRPML1-ALG2 pathway, enhancing autophagy as a defense mechanism against oxidative cytotoxicity. Phosphorylation site mutagenesis, CaMK2G inhibition, lysosomal positioning assay, JIP4 KO cell analysis, TRPML1 pharmacological manipulation, autophagy flux assay The EMBO journal Medium 36394115
2024 AKT directly phosphorylates TRPML1 at Ser343 and inhibits K552 ubiquitination and proteasomal degradation of TRPML1. Stabilized TRPML1 binds ARL8B to trigger lysosomal exocytosis, reducing intracellular ferrous iron and enhancing membrane repair, thereby conferring ferroptosis resistance in AKT-hyperactivated cancer cells. In vitro AKT kinase assay, phosphosite mutagenesis, ubiquitination assay, co-immunoprecipitation of TRPML1-ARL8B, lysosomal exocytosis assay, ferroptosis assay, in vivo xenograft Science translational medicine High 38424427
2017 Lysosomal adenosine accumulation (caused by ADA deficiency) inhibits TRPML1 channel activity; overexpression of ENT3 (lysosomal adenosine transporter) rescues TRPML1 inhibition. TRPML1 inhibition leads to lysosome enlargement, alkalinization, and dysfunction; TRPML1 activation rescues ADA-deficient B-lymphocyte vulnerability to oxidative stress. ADA knockout, TRPML1 electrophysiology, ENT3 overexpression rescue, lysosomal pH and size measurement, oxidative stress assay The Journal of biological chemistry Medium 28087698
2024 TRPML1-mediated Ca2+ release promotes autophagosome-lysosome fusion and lysosome acidification within 10–20 min of activation, and increases transport of lysosomal SNARE proteins STX7 and VAMP7 via SNARE carrier vesicles. Incoming vesicle fusion is a prerequisite for lysosomal Ca2+ efflux leading to acidification and hydrolase activation; PI(3,5)P2 is proposed as the physiological TRPML1 activator generated by vesicle fusions. Pharmacological TRPML1 activation (ML-SA1), lysosomal pH measurement, autophagosome-lysosome fusion assay, SNARE protein trafficking assay, TRPML1 KO validation The Journal of biological chemistry Medium 39433126
2025 TRPML1, activated secondarily to ROS upon inflammatory stimuli, mediates lysosomal Fe2+ release into the cytosol, activating prolyl hydroxylase domain enzymes (PHDs). PHDs repress NF-κB transcriptional activity, suppressing IL-1β transcription in macrophages as a negative feedback control of inflammation. TRPML1 agonist/antagonist treatment, Fe2+ measurement, PHD activity assay, NF-κB reporter assay, IL-1β ELISA, TRPML1 KO macrophages, in vivo colitis model Nature communications High 39856099
2022 TRPML1 localizes to lysosomes in NK cells; genetic deletion of TRPML1 causes mitochondrial fragmentation with collapsed cristae, loss of mitochondrial membrane potential, increased ROS, reduced ATP production, and Ca2+ overload in mitochondria. TRPML1 loss impedes autophagic flux and increases accumulation of dysfunctional mitochondria. TRPML1 genetic deletion in NK92 cells, organelle-specific Ca2+ probes, mitochondrial morphology analysis, mitochondrial membrane potential measurement, ROS assay, autophagic flux assay Journal of immunology Medium 37737664

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2008 The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel. Nature 482 18794901
2016 MCOLN1 is a ROS sensor in lysosomes that regulates autophagy. Nature communications 469 27357649
2020 Mitochondria-lysosome contacts regulate mitochondrial Ca2+ dynamics via lysosomal TRPML1. Proceedings of the National Academy of Sciences of the United States of America 266 32703809
2010 Mucolipins: Intracellular TRPML1-3 channels. FEBS letters 210 20074572
2005 TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity. The Journal of biological chemistry 201 16361256
2017 Structure of mammalian endolysosomal TRPML1 channel in nanodiscs. Nature 175 29019981
2019 TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKKβ/VPS34 pathway. Nature communications 158 31822666
2014 A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV. Nature communications 138 25119295
2021 Autophagy inhibition mediated by MCOLN1/TRPML1 suppresses cancer metastasis via regulating a ROS-driven TP53/p53 pathway. Autophagy 130 34878954
2017 Human TRPML1 channel structures in open and closed conformations. Nature 125 29019983
2005 TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage. The Journal of biological chemistry 124 16257972
2006 Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1. The Journal of biological chemistry 123 16606612
2017 TRPML1: The Ca(2+)retaker of the lysosome. Cell calcium 119 28689729
2017 The lysosomal Ca2+ release channel TRPML1 regulates lysosome size by activating calmodulin. The Journal of biological chemistry 103 28360104
2014 Activation of TRPML1 clears intraneuronal Aβ in preclinical models of HIV infection. The Journal of neuroscience : the official journal of the Society for Neuroscience 99 25143627
2009 Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis. The Journal of biological chemistry 95 19638346
2015 The Phosphoinositide-Gated Lysosomal Ca(2+) Channel, TRPML1, Is Required for Phagosome Maturation. Traffic (Copenhagen, Denmark) 89 26010303
2014 TRPML1: an ion channel in the lysosome. Handbook of experimental pharmacology 88 24756723
2011 Transient receptor potential mucolipin 1 (TRPML1) and two-pore channels are functionally independent organellar ion channels. The Journal of biological chemistry 87 21540176
2008 TRP-ML1 functions as a lysosomal NAADP-sensitive Ca2+ release channel in coronary arterial myocytes. Journal of cellular and molecular medicine 84 18754814
2009 Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV. Journal of neuropathology and experimental neurology 81 19151629
2018 Structural basis for PtdInsP2-mediated human TRPML1 regulation. Nature communications 80 30305615
2010 Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel. The Journal of biological chemistry 76 20864526
2019 HRAS-driven cancer cells are vulnerable to TRPML1 inhibition. EMBO reports 73 30787043
2018 A negative feedback regulation of MTORC1 activity by the lysosomal Ca2+ channel MCOLN1 (mucolipin 1) using a CALM (calmodulin)-dependent mechanism. Autophagy 70 29460684
2015 The mucolipidosis IV Ca2+ channel TRPML1 (MCOLN1) is regulated by the TOR kinase. The Biochemical journal 68 26195823
2001 Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. Human mutation 68 11317355
2022 Artemisia Leaf Extract protects against neuron toxicity by TRPML1 activation and promoting autophagy/mitophagy clearance in both in vitro and in vivo models of MPP+/MPTP-induced Parkinson's disease. Phytomedicine : international journal of phytotherapy and phytopharmacology 67 35752074
2021 MCOLN1/TRPML1 finely controls oncogenic autophagy in cancer by mediating zinc influx. Autophagy 66 33890549
2013 Zinc-dependent lysosomal enlargement in TRPML1-deficient cells involves MTF-1 transcription factor and ZnT4 (Slc30a4) transporter. The Biochemical journal 64 23368743
2009 The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1. Pflugers Archiv : European journal of physiology 61 19763610
2021 miR-204 silencing reduces mitochondrial autophagy and ROS production in a murine AD model via the TRPML1-activated STAT3 pathway. Molecular therapy. Nucleic acids 60 34026326
2004 Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. Human mutation 59 15523648
2011 CUP-5, the C. elegans ortholog of the mammalian lysosomal channel protein MLN1/TRPML1, is required for proteolytic degradation in autolysosomes. Autophagy 58 21997367
2024 TRPML1 triggers ferroptosis defense and is a potential therapeutic target in AKT-hyperactivated cancer. Science translational medicine 56 38924427
2017 TRPML1 Participates in the Progression of Alzheimer's Disease by Regulating the PPARγ/AMPK/Mtor Signalling Pathway. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 56 29131026
2019 The activation of Mucolipin TRP channel 1 (TRPML1) protects motor neurons from L-BMAA neurotoxicity by promoting autophagic clearance. Scientific reports 55 31341250
2010 A role for the Ca2+ channel TRPML1 in gastric acid secretion, based on analysis of knockout mice. Gastroenterology 54 21111738
2014 Cellular zinc levels are modulated by TRPML1-TMEM163 interaction. Traffic (Copenhagen, Denmark) 52 25130899
2010 Shutting down secondary reaction pathways: the essential role of the pyrrolyl ligand in improving silica supported d(0)-ML4 alkene metathesis catalysts from DFT calculations. Journal of the American Chemical Society 50 20481452
2022 Structural mechanism of allosteric activation of TRPML1 by PI(3,5)P2 and rapamycin. Proceedings of the National Academy of Sciences of the United States of America 48 35131932
2018 Endolysosomal Ca2+ Signalling and Cancer Hallmarks: Two-Pore Channels on the Move, TRPML1 Lags Behind! Cancers 47 30591696
2012 Loss of lysosomal ion channel transient receptor potential channel mucolipin-1 (TRPML1) leads to cathepsin B-dependent apoptosis. The Journal of biological chemistry 47 22262857
2023 The synthetic TRPML1 agonist ML-SA1 rescues Alzheimer-related alterations of the endosomal-autophagic-lysosomal system. Journal of cell science 45 36825945
2019 Control of lysosomal TRPML1 channel activity and exosome release by acid ceramidase in mouse podocytes. American journal of physiology. Cell physiology 44 31268777
2019 TRPML1 Promotes Protein Homeostasis in Melanoma Cells by Negatively Regulating MAPK and mTORC1 Signaling. Cell reports 44 31461647
2014 Loss of TRPML1 promotes production of reactive oxygen species: is oxidative damage a factor in mucolipidosis type IV? The Biochemical journal 44 24192042
2011 Reconstitution of lysosomal NAADP-TRP-ML1 signaling pathway and its function in TRP-ML1(-/-) cells. American journal of physiology. Cell physiology 42 21613607
2018 Stimulation of TLR3 triggers release of lysosomal ATP in astrocytes and epithelial cells that requires TRPML1 channels. Scientific reports 41 29636491
2023 Induction of lysosomal exocytosis and biogenesis via TRPML1 activation for the treatment of uranium-induced nephrotoxicity. Nature communications 39 37414766
2018 Robust lysosomal calcium signaling through channel TRPML1 is impaired by lysosomal lipid accumulation. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 39 29030399
2021 Estradiol analogs attenuate autophagy, cell migration and invasion by direct and selective inhibition of TRPML1, independent of estrogen receptors. Scientific reports 38 33859333
2021 Regulation of TRPML1 channel activity and inflammatory exosome release by endogenously produced reactive oxygen species in mouse podocytes. Redox biology 36 34030116
2010 Roles of CUP-5, the Caenorhabditis elegans orthologue of human TRPML1, in lysosome and gut granule biogenesis. BMC cell biology 36 20540742
2022 TRPML1-induced autophagy inhibition triggers mitochondrial mediated apoptosis. Cancer letters 35 35644286
2020 TRPML1 channels initiate Ca2+ sparks in vascular smooth muscle cells. Science signaling 35 32576680
2019 Exosomal release through TRPML1-mediated lysosomal exocytosis is required for adipogenesis. Biochemical and biophysical research communications 35 30711251
2017 Cryo-EM structures of the mammalian endo-lysosomal TRPML1 channel elucidate the combined regulation mechanism. Protein & cell 34 28936784
2015 Mucolipidosis type IV protein TRPML1-dependent lysosome formation. Traffic (Copenhagen, Denmark) 33 25491304
2019 Cyclodextrin triggers MCOLN1-dependent endo-lysosome secretion in Niemann-Pick type C cells. Journal of lipid research 32 30709900
2014 Differential mechanisms of action of the mucolipin synthetic agonist, ML-SA1, on insect TRPML and mammalian TRPML1. Cell calcium 31 25266962
2017 Inhibition of Transient Receptor Potential Channel Mucolipin-1 (TRPML1) by Lysosomal Adenosine Involved in Severe Combined Immunodeficiency Diseases. The Journal of biological chemistry 30 28087698
2023 Blunting ROS/TRPML1 pathway protects AFB1-induced porcine intestinal epithelial cells apoptosis by restoring impaired autophagic flux. Ecotoxicology and environmental safety 29 37086622
2021 Atomic insights into ML-SI3 mediated human TRPML1 inhibition. Structure (London, England : 1993) 28 34171299
2024 MCOLN1/TRPML1 in the lysosome: a promising target for autophagy modulation in diverse diseases. Autophagy 27 38522082
2022 LAMTOR1 inhibition of TRPML1-dependent lysosomal calcium release regulates dendritic lysosome trafficking and hippocampal neuronal function. The EMBO journal 25 35099830
2019 PIKfyve accelerates phagosome acidification through activation of TRPML1 while arrests aberrant vacuolation independent of the Ca2+ channel. Journal of biochemistry 25 30295876
2019 Lycorine Attenuates Autophagy in Osteoclasts via an Axis of mROS/TRPML1/TFEB to Reduce LPS-Induced Bone Loss. Oxidative medicine and cellular longevity 25 31687088
2011 TRPML1. Advances in experimental medicine and biology 25 21290297
2023 LW-213 induces immunogenic tumor cell death via ER stress mediated by lysosomal TRPML1. Cancer letters 24 37806516
2021 Lysosomal calcium is modulated by STIM1/TRPML1 interaction which participates to neuronal survival during ischemic preconditioning. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 24 33484198
2017 The mucolipin-1 (TRPML1) ion channel, transmembrane-163 (TMEM163) protein, and lysosomal zinc handling. Frontiers in bioscience (Landmark edition) 24 28199205
2020 The intracellular Ca2+ release channel TRPML1 regulates lower urinary tract smooth muscle contractility. Proceedings of the National Academy of Sciences of the United States of America 23 33199609
2005 The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations. Human mutation 23 16287144
2019 TRPML1-/TFEB-Dependent Regulation of Lysosomal Exocytosis. Methods in molecular biology (Clifton, N.J.) 22 30674023
2019 Downregulated MCOLN1 Attenuates The Progression Of Non-Small-Cell Lung Cancer By Inhibiting Lysosome-Autophagy. Cancer management and research 22 31576167
2022 Oxidative stress-induced phosphorylation of JIP4 regulates lysosomal positioning in coordination with TRPML1 and ALG2. The EMBO journal 21 36394115
2022 Targeting MCOLN1/TRPML1 channels to protect against ischemia-reperfusion injury by restoring the inhibited autophagic flux in cardiomyocytes. Autophagy 20 35491864
2020 Abnormal podocyte TRPML1 channel activity and exosome release in mice with podocyte-specific Asah1 gene deletion. Biochimica et biophysica acta. Molecular and cell biology of lipids 20 33221496
2025 Lysosomes finely control macrophage inflammatory function via regulating the release of lysosomal Fe2+ through TRPML1 channel. Nature communications 19 39856099
2020 Multiple facets of TRPML1 in autophagy. Cell calcium 19 32380434
2022 Doxorubicin Induces Bone Loss by Increasing Autophagy through a Mitochondrial ROS/TRPML1/TFEB Axis in Osteoclasts. Antioxidants (Basel, Switzerland) 18 36009195
2013 Intracellular two-phase Ca2+ release and apoptosis controlled by TRP-ML1 channel activity in coronary arterial myocytes. American journal of physiology. Cell physiology 18 23283937
2021 MCOLN1 gene therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV. Human molecular genetics 17 33822942
2019 TRPML1 and RAS-driven cancers - exploring a link with great therapeutic potential. Channels (Austin, Tex.) 17 31526156
2002 Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans. BMC genomics 17 11897010
2024 Lysosomal TFEB-TRPML1 Axis in Astrocytes Modulates Depressive-like Behaviors. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 16 39264289
2024 Qixian granule inhibits ferroptosis in vascular endothelial cells by modulating TRPML1 in the lysosome to prevent postmenopausal atherosclerosis. Journal of ethnopharmacology 15 38521431
2023 TRPML1-Induced Lysosomal Ca2+ Signals Activate AQP2 Translocation and Water Flux in Renal Collecting Duct Cells. International journal of molecular sciences 15 36675161
2022 Activated Endolysosomal Cation Channel TRPML1 Facilitates Maturation of α-Synuclein-Containing Autophagosomes. Frontiers in cellular neuroscience 15 35875350
2022 Iron-induced cytotoxicity mediated by endolysosomal TRPML1 channels is reverted by TFEB. Cell death & disease 15 36522443
2021 Lysosomal TRPML1 Channel: Implications in Cardiovascular and Kidney Diseases. Advances in experimental medicine and biology 15 35138619
2024 Lysosomal activity depends on TRPML1-mediated Ca2+ release coupled to incoming vesicle fusions. The Journal of biological chemistry 14 39433126
2023 The inhibition of TRPML1/TFEB leads to lysosomal biogenesis disorder, contributes to developmental fluoride neurotoxicity. Ecotoxicology and environmental safety 14 36608573
2013 Systematic screens for proteins that interact with the mucolipidosis type IV protein TRPML1. PloS one 14 23418601
2008 Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation. Brain & development 14 19006653
2023 The Lysosomal Calcium Channel TRPML1 Maintains Mitochondrial Fitness in NK Cells through Interorganelle Cross-Talk. Journal of immunology (Baltimore, Md. : 1950) 13 37737664
2023 Ezrin inhibition alleviates oxidative stress and pyroptosis via regulating TRPML1-calcineurin axis mediated enhancement of autophagy in spinal cord injury. Free radical biology & medicine 13 38142951
2019 Association of luteal cell degeneration and progesterone deficiency with lysosomal storage disorder mucolipidosis type IV in Mcoln1-/- mouse model†. Biology of reproduction 13 31317194
2009 NMR assignments of the DNA binding domain of Ml4 protein from Mesorhizobium loti. Biomolecular NMR assignments 13 20020226

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