Citations for
1MCOLN1, MCOLN2, MCOLN3
The mucolipin-2 (TRPML2) ion channel: a tissue-specific protein crucial to normal cell function.
Cuajungco MP, Silva J, Habibi A, Valadez JA.
Pflugers Arch 468(2):177-92. doi: 10.1007/s00424-015-1732-2. Epub 2015 Sep 4. 2016
2MCOLN1, MCOLN2, MCOLN3
Novel Role of TRPML2 in the Regulation of the Innate Immune Response.
Sun L, Hua Y, Vergarajauregui S, Diab HI, Puertollano R.
J Immunol 195(10):4922-32. doi: 10.4049/jimmunol.1500163. Epub 2015 Oct 2. 2015
3MCOLN1, PPP3CA, TFEB
Lysosomal calcium signalling regulates autophagy through calcineurin and ​TFEB.
Medina DL, Di Paola S, Peluso I, Armani A, De Stefani D, Venditti R, Montefusco S, Scotto-Rosato A, Prezioso C, Forrester A, Settembre C, Wang W, Gao Q, Xu H, Sandri M, Rizzuto R, De Matteis MA, Ballabio A.
Nat Cell Biol 17(3):288-99. 2015
4MCOLN1, TLR7, TLR9, UNC93B1
Mucolipin 1 positively regulates TLR7 responses in dendritic cells by facilitating RNA transportation to lysosomes.
Li X, Saitoh S, Shibata T, Tanimura N, Fukui R, Miyake K.
Int Immunol 27(2):83-94. doi: 10.1093/intimm/dxu086. Epub 2014 Sep 19. 2015
5MCOLN1
Loss of TRPML1 promotes production of reactive oxygen species: is oxidative damage a factor in mucolipidosis type IV?
Coblentz J, St Croix C, Kiselyov K.
Biochem J 457(2):361-8. doi: 10.1042/BJ20130647. 2014
6MCOLN1, MCOLN3
Mucolipin co-deficiency causes accelerated endolysosomal vacuolation of enterocytes and failure-to-thrive from birth to weaning.
Remis NN, Wiwatpanit T, Castiglioni AJ, Flores EN, Cantú JA, García-Añoveros J.
PLoS Genet 10(12):e1004833. doi: 10.1371/journal.pgen.1004833. eCollection 2014 Dec. 2014
7MCOLN1, ML4
A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.
AlBakheet A, Qari A, Colak D, Rasheed A, Kaya N, Al-Sayed M.
Gene 526(2):464-6. doi: 10.1016/j.gene.2013.04.076. Epub 2013 May 15. 2013
8MCOLN1, SLC30A4
Zinc-dependent lysosomal enlargement in TRPML1-deficient cells involves MTF-1 transcription factor and ZnT4 (Slc30a4) transporter.
Kukic I, Lee JK, Coblentz J, Kelleher SL, Kiselyov K.
Biochem J 451(2):155-63. doi: 10.1042/BJ20121506. 2013
9MCOLN1
Intracellular two-phase Ca2+ release and apoptosis controlled by TRP-ML1 channel activity in coronary arterial myocytes.
Xu M, Li X, Walsh SW, Zhang Y, Abais JM, Boini KM, Li PL.
Am J Physiol Cell Physiol 304(5):C458-66. doi: 10.1152/ajpcell.00342.2012. Epub 2013 Jan 2. 2013
10CTSB, LAMP1, MCOLN1, TRPML
Loss of lysosomal ion channel transient receptor potential channel mucolipin-1 (TRPML1) leads to cathepsin B-dependent apoptosis.
Colletti GA, Miedel MT, Quinn J, Andharia N, Weisz OA, Kiselyov K.
J Biol Chem 287(11):8082-91. doi: 10.1074/jbc.M111.285536. Epub 2012 Jan 18. 2012
11MCOLN1
Role of TRPML and two-pore channels in endolysosomal cation homeostasis.
Grimm C, Hassan S, Wahl-Schott C, Biel M.
J Pharmacol Exp Ther 342(2):236-44. doi: 10.1124/jpet.112.192880. Epub 2012 Apr 19. 2012
12MCOLN1
Role of protein kinase d in Golgi exit and lysosomal targeting of the transmembrane protein, Mcoln1.
Marks DL, Holicky EL, Wheatley CL, Frumkin A, Bach G, Pagano RE.
Traffic 13(4):565-75. doi: 10.1111/j.1600-0854.2012.01331.x. Epub 2012 Feb 16. 2012
13MCOLN1
The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain.
LaPlante JM, Falardeau JL, Brown EM, Slaugenhaupt SA, Vassilev PM.
Exp Cell Res 317(6):691-705. Epub 2011 Jan 20. 2011
14MCOLN1, TPCN1
Transient receptor potential mucolipin 1 (TRPML1) and two-pore channels are functionally independent organellar ion channels.
Yamaguchi S, Jha A, Li Q, Soyombo AA, Dickinson GD, Churamani D, Brailoiu E, Patel S, Muallem S.
J Biol Chem 286(26):22934-42. doi: 10.1074/jbc.M110.210930. Epub 2011 May 3. 2011
15MCOLN1, MCOLN2, MCOLN3
Mucolipins: Intracellular TRPML1-3 channels.
Cheng X, Shen D, Samie M, Xu H.
FEBS Lett 584(10):2013-21. Epub 2010 Jan 13. Review.PMID: 20074572 2010
16MCOLN1, ML4
Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel.
Eichelsdoerfer JL, Evans JA, Slaugenhaupt SA, Cuajungco MP.
J Biol Chem 285(45):34304-8. Epub 2010 Sep 23. 2010
17MCOLN1, MCOLN2, MCOLN3
A potentially dynamic lysosomal role for the endogenous TRPML proteins.
Zeevi DA, Frumkin A, Offen-Glasner V, Kogot-Levin A, Bach G.
J Pathol 219(2):153-162. [Epub ahead of print] 2009
18MCOLN1
Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis.
Dong XP, Wang X, Shen D, Chen S, Liu M, Wang Y, Mills E, Cheng X, Delling M, Xu H.
J Biol Chem 284(46):32040-52. Epub 2009 Jul 28. 2009
19MCOLN1, PDCD6
Identification of the penta-EF-hand protein ALG-2 as a Ca2+-dependent interactor of mucolipin-1.
Vergarajauregui S, Martina JA, Puertollano R.
J Biol Chem 284(52):36357-66. Epub 2009 Oct 28.PMID: 19864416 2009
20MCOLN1, ML4
Isolated ocular disease is associated with decreased mucolipin-1 channel conductance.
Goldin E, Caruso RC, Benko W, Kaneski CR, Stahl S, Schiffmann R.
Invest Ophthalmol Vis Sci 49(7):3134-42. Epub 2008 Mar 7. 2008
21MCOLN1, ML4
The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel.
Dong XP, Cheng X, Mills E, Delling M, Wang F, Kurz T, Xu H.
Nature 455(7215):992-6. Epub 2008 Sep 14. 2008
22MCOLN1
Mucolipin 1 channel activity is regulated by protein kinase A-mediated phosphorylation.
Vergarajauregui S, Oberdick R, Kiselyov K, Puertollano R.
Biochem J 410(2):417-25. 2008
23MCOLN1
TRPML and lysosomal function.
Zeevi DA, Frumkin A, Bach G.
Biochim Biophys Acta 1772(8):851-8. Epub 2007 Jan 19. Review. 2007
24MCOLN1, MCOLN2, MCOLN3
Mucolipin-2 localizes to the Arf6-associated pathway and regulates recycling of GPI-APs.
Karacsonyi C, Miguel AS, Puertollano R.
Traffic 8(10):1404-14. Epub 2007 Jul 29. 2007
25MCOLN1, ML4
Lysosomal exocytosis is impaired in mucolipidosis type IV.
LaPlante JM, Sun M, Falardeau J, Dai D, Brown EM, Slaugenhaupt SA, Vassilev PM.
Mol Genet Metab 89(4):339-48. Epub 2006 Aug 17. 2006
26MCOLN1
Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic.
Pryor PR, Reimann F, Gribble FM, Luzio JP.
Traffic 7(10):1388-98. 2006
27MCOLN1, MCOLN2, MCOLN3
Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1.
Venkatachalam K, Hofmann T, Montell C.
J Biol Chem 281(25):17517-27. Epub 2006 Apr 10. 2006
28MCOLN1, MCOLN2, MCOLN3, PKD2
Cellular and molecular function of mucolipins (TRPML) and polycystin 2 (TRPP2).
Qian F, Noben-Trauth K.
Pflugers Arch 451(1):277-85. Epub 2005 Jun 22. Review. 2005
29MCOLN1, ML4
Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.
Raychowdhury MK, Gonzalez-Perrett S, Montalbetti N, Timpanaro GA, Chasan B, Goldmann WH, Stahl S, Cooney A, Goldin E, Cantiello HF.
Hum Mol Genet 13(6):617-27. Epub 2004 Jan 28. 2004
30MCOLN1, ML4
Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis.
Treusch S, Knuth S, Slaugenhaupt SA, Goldin E, Grant BD, Fares H.
Proc Natl Acad Sci U S A 101(13):4483-8. Epub 2004 Mar 15. 2004
31MCOLN1, ML4
Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV.
LaPlante JM, Ye CP, Quinn SJ, Goldin E, Brown EM, Slaugenhaupt SA, Vassilev PM.
Biochem Biophys Res Commun 322(4):1384-91. 2004
32MCOLN1, ML4
Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway.
LaPlante JM, Falardeau J, Sun M, Kanazirska M, Brown EM, Slaugenhaupt SA, Vassilev PM.
FEBS Lett 532(1-2):183-7. 2002
33MCOLN1, ML4
The neurogenetics of mucolipidosis type IV.
Altarescu G, Sun M, Moore DF, Smith JA, Wiggs EA, Solomon BI, Patronas NJ, Frei KP, Gupta S, Kaneski CR, Quarrell OW, Slaugenhaupt SA, Goldin E, Schiffmann R.
Neurology 59(3):306-13. 2002
34MCOLN1, ML4
Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.
Bargal R, Avidan N, Olender T, Ben Asher E, Zeigler M, Raas-Rothschild A, Frumkin A, Ben-Yoseph O, Friedlender Y, Lancet D, Bach G.
Hum Mutat 17(5):397-402. 2001
35CAMSAP3, MCOLN1
A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.
Acierno JS Jr, Kennedy JC, Falardeau JL, Leyne M, Bromley MC, Colman MW, Sun M, Bove C, Ashworth LK, Chadwick LH, Schiripo T, Ma S, Goldin E, Schiffmann R, Slaugenhaupt SA.
Genomics 73(2):203-10. 2001
36MCOLN1, ML4, PNPLA6
Identification of the gene causing mucolipidosis type IV.
Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G.
Nat Genet 26(1):118-23. 2000