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Search results 1 to 100 out of 139 for Mcoln1

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0.045s
Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: chimpanzee
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Publication
First Author: Cheng X
Year: 2014
Journal: Nat Med
Title: The intracellular Ca²⁺ channel MCOLN1 is required for sarcolemma repair to prevent muscular dystrophy.
Volume: 20
Issue: 10
Pages: 1187-92
Publication
First Author: Chacon J
Year: 2019
Journal: Mol Brain
Title: ZnT3 expression levels are down-regulated in the brain of Mcoln1 knockout mice.
Volume: 12
Issue: 1
Pages: 24
Publication  
First Author: Falardeau JL
Year: 2002
Journal: BMC Genomics
Title: Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans.
Volume: 3
Pages: 3
Publication
First Author: Griffin CS
Year: 2020
Journal: Proc Natl Acad Sci U S A
Title: The intracellular Ca2+ release channel TRPML1 regulates lower urinary tract smooth muscle contractility.
Volume: 117
Issue: 48
Pages: 30775-30786
Publication  
First Author: Mepyans M
Year: 2020
Journal: Dis Model Mech
Title: Early evidence of delayed oligodendrocyte maturation in the mouse model of mucolipidosis type IV.
Volume: 13
Issue: 7
Publication
First Author: Grishchuk Y
Year: 2016
Journal: Am J Pathol
Title: Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV.
Volume: 186
Issue: 1
Pages: 199-209
Publication
First Author: Grishchuk Y
Year: 2015
Journal: Dis Model Mech
Title: Impaired myelination and reduced brain ferric iron in the mouse model of mucolipidosis IV.
Volume: 8
Issue: 12
Pages: 1591-601
Publication
First Author: Weinstock LD
Year: 2018
Journal: Hum Mol Genet
Title: Fingolimod phosphate inhibits astrocyte inflammatory activity in mucolipidosis IV.
Volume: 27
Issue: 15
Pages: 2725-2738
Publication
First Author: Wang Z
Year: 2019
Journal: Biol Reprod
Title: Association of luteal cell degeneration and progesterone deficiency with lysosomal storage disorder mucolipidosis type IV in Mcoln1-/- mouse model†.
Volume: 101
Issue: 4
Pages: 782-790
Publication
First Author: Venugopal B
Year: 2007
Journal: Am J Hum Genet
Title: Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV.
Volume: 81
Issue: 5
Pages: 1070-83
Publication
First Author: Li X
Year: 2015
Journal: Int Immunol
Title: Mucolipin 1 positively regulates TLR7 responses in dendritic cells by facilitating RNA transportation to lysosomes.
Volume: 27
Issue: 2
Pages: 83-94
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
Publication
First Author: Chen Q
Year: 2017
Journal: Nature
Title: Structure of mammalian endolysosomal TRPML1 channel in nanodiscs.
Volume: 550
Issue: 7676
Pages: 415-418
Publication
First Author: Zhang L
Year: 2017
Journal: Cell Physiol Biochem
Title: TRPML1 Participates in the Progression of Alzheimer's Disease by Regulating the PPARγ/AMPK/Mtor Signalling Pathway.
Volume: 43
Issue: 6
Pages: 2446-2456
Publication
First Author: Gómez NM
Year: 2018
Journal: FASEB J
Title: Robust lysosomal calcium signaling through channel TRPML1 is impaired by lysosomal lipid accumulation.
Volume: 32
Issue: 2
Pages: 782-794
Publication
First Author: Walker MT
Year: 2016
Journal: Hum Mol Genet
Title: Suppression of the motor deficit in a mucolipidosis type IV mouse model by bone marrow transplantation.
Volume: 25
Issue: 13
Pages: 2752-2761
Publication
First Author: Curcio-Morelli C
Year: 2010
Journal: Neurobiol Dis
Title: Macroautophagy is defective in mucolipin-1-deficient mouse neurons.
Volume: 40
Issue: 2
Pages: 370-7
Publication  
First Author: Sangster M
Year: 2023
Journal: Front Mol Neurosci
Title: Brain cell type specific proteomics approach to discover pathological mechanisms in the childhood CNS disorder mucolipidosis type IV.
Volume: 16
Pages: 1215425
Publication  
First Author: Thakore P
Year: 2020
Journal: Sci Signal
Title: TRPML1 channels initiate Ca2+ sparks in vascular smooth muscle cells.
Volume: 13
Issue: 637
Publication  
First Author: Boudewyn LC
Year: 2017
Journal: Neurobiol Dis
Title: N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.
Volume: 105
Pages: 257-270
Publication
First Author: Miller A
Year: 2015
Journal: Traffic
Title: Mucolipidosis type IV protein TRPML1-dependent lysosome formation.
Volume: 16
Issue: 3
Pages: 284-97
Publication
First Author: Chandra M
Year: 2011
Journal: Gastroenterology
Title: A role for the Ca2+ channel TRPML1 in gastric acid secretion, based on analysis of knockout mice.
Volume: 140
Issue: 3
Pages: 857-67
Publication
First Author: Dong XP
Year: 2009
Journal: J Biol Chem
Title: Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis.
Volume: 284
Issue: 46
Pages: 32040-52
Publication
First Author: Zhang X
Year: 2012
Journal: Proc Natl Acad Sci U S A
Title: Phosphoinositide isoforms determine compartment-specific ion channel activity.
Volume: 109
Issue: 28
Pages: 11384-9
Publication
First Author: Dong XP
Year: 2008
Journal: Nature
Title: The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel.
Volume: 455
Issue: 7215
Pages: 992-6
GXD Expression    
Probe: MGI:2681448
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1876728
Stage: TS28
Assay Id: MGI:2681457
Age: postnatal
Image: 3
Specimen Label: spleen
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:2681449
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1876728
Stage: TS28
Assay Id: MGI:2681459
Age: postnatal
Image: 3
Specimen Label: spleen
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:2681448
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737328
Stage: TS28
Assay Id: MGI:2681457
Age: postnatal
Image: 3
Specimen Label: kidney
Detected: true
Specimen Num: 7
GXD Expression    
Probe: MGI:2681449
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737328
Stage: TS28
Assay Id: MGI:2681459
Age: postnatal
Image: 3
Specimen Label: kidney
Detected: true
Specimen Num: 7
GXD Expression    
Probe: MGI:2681448
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1672828
Stage: TS28
Assay Id: MGI:2681457
Age: postnatal
Image: 3
Specimen Label: lung
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:2681449
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1672828
Stage: TS28
Assay Id: MGI:2681459
Age: postnatal
Image: 3
Specimen Label: lung
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:2681448
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598828
Stage: TS28
Assay Id: MGI:2681457
Age: postnatal
Image: 3
Specimen Label: skeletal muscle
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:2681449
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598828
Stage: TS28
Assay Id: MGI:2681459
Age: postnatal
Image: 3
Specimen Label: skeletal muscle
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:2681448
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:2681457
Age: postnatal
Image: 3
Specimen Label: heart
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:2681449
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:2681459
Age: postnatal
Image: 3
Specimen Label: heart
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:2681448
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603910
Stage: TS10
Assay Id: MGI:2681455
Age: embryonic day 7.0
Image: 3
Specimen Label: 7 day
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:2681448
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603918
Stage: TS18
Assay Id: MGI:2681455
Age: embryonic day 11.0
Image: 3
Specimen Label: 11 day
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:2681448
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603923
Stage: TS23
Assay Id: MGI:2681455
Age: embryonic day 15.0
Image: 3
Specimen Label: 15 day
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:2681448
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603925
Stage: TS25
Assay Id: MGI:2681455
Age: embryonic day 17.0
Image: 3
Specimen Label: 17 day
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:2681448
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:2681457
Age: postnatal
Image: 3
Specimen Label: liver
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:2681449
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:2681459
Age: postnatal
Image: 3
Specimen Label: liver
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:4822021
Assay Type: RT-PCR
Annotation Date: 2010-09-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1759725
Stage: TS25
Assay Id: MGI:4822352
Age: embryonic day 17.0
Specimen Label: E17
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:4822021
Assay Type: RT-PCR
Annotation Date: 2010-09-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1759726
Stage: TS26
Assay Id: MGI:4822352
Age: embryonic day 18.0
Specimen Label: E18
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:4822021
Assay Type: RT-PCR
Annotation Date: 2010-09-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1759727
Stage: TS27
Assay Id: MGI:4822352
Age: postnatal day 0
Specimen Label: P0
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:4822021
Assay Type: RT-PCR
Annotation Date: 2010-09-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1759727
Stage: TS27
Assay Id: MGI:4822352
Age: postnatal day 2
Specimen Label: P2
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:4822021
Assay Type: RT-PCR
Annotation Date: 2010-09-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1759728
Stage: TS28
Assay Id: MGI:4822352
Age: postnatal day 4
Specimen Label: P4
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:4822021
Assay Type: RT-PCR
Annotation Date: 2010-09-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1759728
Stage: TS28
Assay Id: MGI:4822352
Age: postnatal day 6
Specimen Label: P6
Detected: true
Specimen Num: 6
GXD Expression      
Probe: MGI:4822021
Assay Type: RT-PCR
Annotation Date: 2010-09-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1759728
Stage: TS28
Assay Id: MGI:4822352
Age: postnatal day 8
Specimen Label: P8
Detected: true
Specimen Num: 7
GXD Expression    
Probe: MGI:2681448
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1797228
Stage: TS28
Assay Id: MGI:2681457
Age: postnatal
Image: 3
Specimen Label: testes
Detected: true
Specimen Num: 8
GXD Expression    
Probe: MGI:2681449
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1797228
Stage: TS28
Assay Id: MGI:2681459
Age: postnatal
Image: 3
Specimen Label: testes
Detected: true
Specimen Num: 8
GXD Expression    
Probe: MGI:2681448
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:2681457
Age: postnatal
Image: 3
Specimen Label: brain
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:2681449
Assay Type: Northern blot
Annotation Date: 2003-12-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:2681459
Age: postnatal
Image: 3
Specimen Label: brain
Detected: true
Specimen Num: 2
Publication    
First Author: Strausberg R
Year: 2001
Journal: GenBank Submission
Title: Mus musculus, Similar to mucolipin 1, clone MGC:7172 IMAGE:3257440
Pages: BC005651
Publication
First Author: Xu H
Year: 2007
Journal: Proc Natl Acad Sci U S A
Title: Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice.
Volume: 104
Issue: 46
Pages: 18321-6
Publication
First Author: Li G
Year: 2023
Journal: Biochim Biophys Acta Mol Cell Res
Title: Impaired autophagic flux and dedifferentiation in podocytes lacking Asah1 gene: Role of lysosomal TRPML1 channel.
Volume: 1870
Issue: 1
Pages: 119386
Publication
First Author: Micsenyi MC
Year: 2009
Journal: J Neuropathol Exp Neurol
Title: Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV.
Volume: 68
Issue: 2
Pages: 125-35
Publication
First Author: Park S
Year: 2016
Journal: EMBO Rep
Title: Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV.
Volume: 17
Issue: 2
Pages: 266-78
Publication
First Author: Cuajungco MP
Year: 2014
Journal: Traffic
Title: Cellular zinc levels are modulated by TRPML1-TMEM163 interaction.
Volume: 15
Issue: 11
Pages: 1247-65
Publication
First Author: Krishna S
Year: 2016
Journal: Dev Cell
Title: PIKfyve Regulates Vacuole Maturation and Nutrient Recovery following Engulfment.
Volume: 38
Issue: 5
Pages: 536-47
Publication
First Author: Sun X
Year: 2020
Journal: Sci Rep
Title: A lysosomal K+ channel regulates large particle phagocytosis by facilitating lysosome Ca2+ release.
Volume: 10
Issue: 1
Pages: 1038
Publication
First Author: Wang X
Year: 2012
Journal: Cell
Title: TPC proteins are phosphoinositide- activated sodium-selective ion channels in endosomes and lysosomes.
Volume: 151
Issue: 2
Pages: 372-83
Publication
First Author: Spix B
Year: 2022
Journal: Nat Commun
Title: Lung emphysema and impaired macrophage elastase clearance in mucolipin 3 deficient mice.
Volume: 13
Issue: 1
Pages: 318
Publication
First Author: Wiwatpanit T
Year: 2018
Journal: J Neurosci
Title: Codeficiency of Lysosomal Mucolipins 3 and 1 in Cochlear Hair Cells Diminishes Outer Hair Cell Longevity and Accelerates Age-Related Hearing Loss.
Volume: 38
Issue: 13
Pages: 3177-3189
Publication    
First Author: Plesch E
Year: 2018
Journal: Elife
Title: Selective agonist of TRPML2 reveals direct role in chemokine release from innate immune cells.
Volume: 7
Publication
First Author: Li X
Year: 2016
Journal: Nat Cell Biol
Title: A molecular mechanism to regulate lysosome motility for lysosome positioning and tubulation.
Volume: 18
Issue: 4
Pages: 404-17
Publication
First Author: Remis NN
Year: 2014
Journal: PLoS Genet
Title: Mucolipin co-deficiency causes accelerated endolysosomal vacuolation of enterocytes and failure-to-thrive from birth to weaning.
Volume: 10
Issue: 12
Pages: e1004833
Publication
First Author: Freeman SA
Year: 2020
Journal: Science
Title: Lipid-gated monovalent ion fluxes regulate endocytic traffic and support immune surveillance.
Volume: 367
Issue: 6475
Pages: 301-305
Publication
First Author: Cougnoux A
Year: 2018
Journal: Hum Mol Genet
Title: Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention.
Volume: 27
Issue: 12
Pages: 2076-2089
Publication
First Author: Cawley NX
Year: 2020
Journal: PLoS One
Title: Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology.
Volume: 15
Issue: 1
Pages: e0227829
Publication
First Author: Davis LC
Year: 2020
Journal: EMBO J
Title: NAADP-regulated two-pore channels drive phagocytosis through endo-lysosomal Ca(2+) nanodomains, calcineurin and dynamin.
Volume: 39
Issue: 14
Pages: e104058
Publication
First Author: Jakobs HH
Year: 2014
Journal: PLoS One
Title: The N-reductive system composed of mitochondrial amidoxime reducing component (mARC), cytochrome b5 (CYB5B) and cytochrome b5 reductase (CYB5R) is regulated by fasting and high fat diet in mice.
Volume: 9
Issue: 8
Pages: e105371
Publication  
First Author: Ramsey IS
Year: 2006
Journal: Annu Rev Physiol
Title: An introduction to TRP channels.
Volume: 68
Pages: 619-47
Publication
First Author: Asai Y
Year: 2010
Journal: J Assoc Res Otolaryngol
Title: A quantitative analysis of the spatiotemporal pattern of transient receptor potential gene expression in the developing mouse cochlea.
Volume: 11
Issue: 1
Pages: 27-37