| 1 | MCOLN1, TMEM163
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| The mucolipin-1 (TRPML1) ion channel, transmembrane-163 (TMEM163) protein, and lysosomal zinc handling
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| Cuajungco MP, Kiselyov K.
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| Front Biosci (Landmark Ed). Mar 1;22(8):1330-1343. doi: 10.2741/4546. 2017
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| 2 | MCOLN1, MCOLN2, MCOLN3
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| The mucolipin-2 (TRPML2) ion channel: a tissue-specific protein crucial to normal cell function.
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| Cuajungco MP, Silva J, Habibi A, Valadez JA.
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| Pflugers Arch 468(2):177-92. doi: 10.1007/s00424-015-1732-2. Epub 2015 Sep 4.
2016
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| 3 | MCOLN1, MCOLN2, MCOLN3
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| Novel Role of TRPML2 in the Regulation of the Innate Immune Response.
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| Sun L, Hua Y, Vergarajauregui S, Diab HI, Puertollano R.
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| J Immunol 195(10):4922-32. doi: 10.4049/jimmunol.1500163. Epub 2015 Oct 2.
2015
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| 4 | MCOLN1, PPP3CA, TFEB
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| Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB.
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| 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.
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| Nat Cell Biol 17(3):288-99.
2015
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| 5 | MCOLN1, TLR7, TLR9, UNC93B1
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| Mucolipin 1 positively regulates TLR7 responses in dendritic cells by facilitating RNA transportation to lysosomes.
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| Li X, Saitoh S, Shibata T, Tanimura N, Fukui R, Miyake K.
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| Int Immunol 27(2):83-94. doi: 10.1093/intimm/dxu086. Epub 2014 Sep 19.
2015
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| 6 | MCOLN1
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| Loss of TRPML1 promotes production of reactive oxygen species: is oxidative damage a factor in mucolipidosis type IV?
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| Coblentz J, St Croix C, Kiselyov K.
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| Biochem J 457(2):361-8. doi: 10.1042/BJ20130647. 2014
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| 7 | MCOLN1, MCOLN3
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| Mucolipin co-deficiency causes accelerated endolysosomal vacuolation of enterocytes and failure-to-thrive from birth to weaning.
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| Remis NN, Wiwatpanit T, Castiglioni AJ, Flores EN, Cantú JA, García-Añoveros J.
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| PLoS Genet 10(12):e1004833. doi: 10.1371/journal.pgen.1004833. eCollection 2014 Dec.
2014
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| 8 | MCOLN1, TMEM163
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| Cellular zinc levels are modulated by TRPML1-TMEM163 interaction
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| Cuajungco MP, Basilio LC, Silva J, Hart T, Tringali J, Chen CC, Biel M, Grimm C.
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| Traffic. Nov;15(11):1247-65. doi: 10.1111/tra.12205. Epub 2014 Sep 2. 2014
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| 9 | MCOLN1, ML4
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| A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.
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| AlBakheet A, Qari A, Colak D, Rasheed A, Kaya N, Al-Sayed M.
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| Gene 526(2):464-6. doi: 10.1016/j.gene.2013.04.076. Epub 2013 May 15.
2013
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| 10 | MCOLN1, SLC30A4
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| Zinc-dependent lysosomal enlargement in TRPML1-deficient cells involves MTF-1 transcription factor and ZnT4 (Slc30a4) transporter.
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| Kukic I, Lee JK, Coblentz J, Kelleher SL, Kiselyov K.
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| Biochem J 451(2):155-63. doi: 10.1042/BJ20121506.
2013
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| 11 | MCOLN1
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| Intracellular two-phase Ca2+ release and apoptosis controlled by TRP-ML1 channel activity in coronary arterial myocytes.
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| Xu M, Li X, Walsh SW, Zhang Y, Abais JM, Boini KM, Li PL.
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| Am J Physiol Cell Physiol 304(5):C458-66. doi: 10.1152/ajpcell.00342.2012. Epub 2013 Jan 2.
2013
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| 12 | CTSB, LAMP1, MCOLN1, TRPML
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| Loss of lysosomal ion channel transient receptor potential channel mucolipin-1 (TRPML1) leads to cathepsin B-dependent apoptosis.
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| Colletti GA, Miedel MT, Quinn J, Andharia N, Weisz OA, Kiselyov K.
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| J Biol Chem 287(11):8082-91. doi: 10.1074/jbc.M111.285536. Epub 2012 Jan 18. 2012
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| 13 | MCOLN1
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| Role of TRPML and two-pore channels in endolysosomal cation homeostasis.
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| Grimm C, Hassan S, Wahl-Schott C, Biel M.
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| J Pharmacol Exp Ther 342(2):236-44. doi: 10.1124/jpet.112.192880. Epub 2012 Apr 19.
2012
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| 14 | MCOLN1
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| Role of protein kinase d in Golgi exit and lysosomal targeting of the transmembrane protein, Mcoln1.
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| Marks DL, Holicky EL, Wheatley CL, Frumkin A, Bach G, Pagano RE.
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| Traffic 13(4):565-75. doi: 10.1111/j.1600-0854.2012.01331.x. Epub 2012 Feb 16.
2012
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| 15 | MCOLN1
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| The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain.
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| LaPlante JM, Falardeau JL, Brown EM, Slaugenhaupt SA, Vassilev PM.
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| Exp Cell Res 317(6):691-705. Epub 2011 Jan 20.
2011
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| 16 | MCOLN1, TPCN1
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| Transient receptor potential mucolipin 1 (TRPML1) and two-pore channels are functionally independent organellar ion channels.
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| Yamaguchi S, Jha A, Li Q, Soyombo AA, Dickinson GD, Churamani D, Brailoiu E, Patel S, Muallem S.
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| J Biol Chem 286(26):22934-42. doi: 10.1074/jbc.M110.210930. Epub 2011 May 3.
2011
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| 17 | MCOLN1, MCOLN2, MCOLN3
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| Mucolipins: Intracellular TRPML1-3 channels.
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| Cheng X, Shen D, Samie M, Xu H.
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| FEBS Lett 584(10):2013-21. Epub 2010 Jan 13. Review.PMID: 20074572 2010
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| 18 | MCOLN1, ML4
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| Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel.
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| Eichelsdoerfer JL, Evans JA, Slaugenhaupt SA, Cuajungco MP.
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| J Biol Chem 285(45):34304-8. Epub 2010 Sep 23.
2010
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| 19 | MCOLN1, MCOLN2, MCOLN3
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| A potentially dynamic lysosomal role for the endogenous TRPML proteins.
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| Zeevi DA, Frumkin A, Offen-Glasner V, Kogot-Levin A, Bach G.
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| J Pathol 219(2):153-162. [Epub ahead of print]
2009
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| 20 | MCOLN1
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| Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis.
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| Dong XP, Wang X, Shen D, Chen S, Liu M, Wang Y, Mills E, Cheng X, Delling M, Xu H.
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| J Biol Chem 284(46):32040-52. Epub 2009 Jul 28.
2009
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| 21 | MCOLN1, PDCD6
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| Identification of the penta-EF-hand protein ALG-2 as a Ca2+-dependent interactor of mucolipin-1.
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| Vergarajauregui S, Martina JA, Puertollano R.
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| J Biol Chem 284(52):36357-66. Epub 2009 Oct 28.PMID: 19864416 2009
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| 22 | MCOLN1, ML4
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| Isolated ocular disease is associated with decreased mucolipin-1 channel conductance.
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| Goldin E, Caruso RC, Benko W, Kaneski CR, Stahl S, Schiffmann R.
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| Invest Ophthalmol Vis Sci 49(7):3134-42. Epub 2008 Mar 7.
2008
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| 23 | MCOLN1, ML4
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| The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel.
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| Dong XP, Cheng X, Mills E, Delling M, Wang F, Kurz T, Xu H.
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| Nature 455(7215):992-6. Epub 2008 Sep 14. 2008
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| 24 | MCOLN1
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| Mucolipin 1 channel activity is regulated by protein kinase A-mediated phosphorylation.
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| Vergarajauregui S, Oberdick R, Kiselyov K, Puertollano R.
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| Biochem J 410(2):417-25.
2008
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| 25 | MCOLN1
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| TRPML and lysosomal function.
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| Zeevi DA, Frumkin A, Bach G.
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| Biochim Biophys Acta 1772(8):851-8. Epub 2007 Jan 19. Review.
2007
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| 26 | MCOLN1, MCOLN2, MCOLN3
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| Mucolipin-2 localizes to the Arf6-associated pathway and regulates recycling of GPI-APs.
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| Karacsonyi C, Miguel AS, Puertollano R.
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| Traffic 8(10):1404-14. Epub 2007 Jul 29.
2007
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| 27 | MCOLN1, ML4
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| Lysosomal exocytosis is impaired in mucolipidosis type IV.
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| LaPlante JM, Sun M, Falardeau J, Dai D, Brown EM, Slaugenhaupt SA, Vassilev PM.
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| Mol Genet Metab 89(4):339-48. Epub 2006 Aug 17. 2006
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| 28 | MCOLN1
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| Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic.
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| Pryor PR, Reimann F, Gribble FM, Luzio JP.
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| Traffic 7(10):1388-98.
2006
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| 29 | MCOLN1, MCOLN2, MCOLN3
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| Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1.
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| Venkatachalam K, Hofmann T, Montell C.
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| J Biol Chem 281(25):17517-27. Epub 2006 Apr 10.
2006
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| 30 | MCOLN1, MCOLN2, MCOLN3, PKD2
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| Cellular and molecular function of mucolipins (TRPML) and polycystin 2 (TRPP2).
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| Qian F, Noben-Trauth K.
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| Pflugers Arch 451(1):277-85. Epub 2005 Jun 22. Review.
2005
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| 31 | MCOLN1, ML4
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| Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.
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| Raychowdhury MK, Gonzalez-Perrett S, Montalbetti N, Timpanaro GA, Chasan B, Goldmann WH, Stahl S, Cooney A, Goldin E, Cantiello HF.
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| Hum Mol Genet 13(6):617-27. Epub 2004 Jan 28. 2004
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| 32 | MCOLN1, ML4
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| Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis.
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| Treusch S, Knuth S, Slaugenhaupt SA, Goldin E, Grant BD, Fares H.
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| Proc Natl Acad Sci U S A 101(13):4483-8. Epub 2004 Mar 15. 2004
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| 33 | MCOLN1, ML4
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| Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV.
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| LaPlante JM, Ye CP, Quinn SJ, Goldin E, Brown EM, Slaugenhaupt SA, Vassilev PM.
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| Biochem Biophys Res Commun 322(4):1384-91. 2004
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| 34 | MCOLN1, ML4
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| Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway.
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| LaPlante JM, Falardeau J, Sun M, Kanazirska M, Brown EM, Slaugenhaupt SA, Vassilev PM.
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| FEBS Lett 532(1-2):183-7. 2002
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| 35 | MCOLN1, ML4
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| The neurogenetics of mucolipidosis type IV.
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| 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.
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| Neurology 59(3):306-13. 2002
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| 36 | MCOLN1, ML4
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| Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.
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| 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.
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| Hum Mutat 17(5):397-402. 2001
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| 37 | CAMSAP3, MCOLN1
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| A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.
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| 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.
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| Genomics 73(2):203-10. 2001
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| 38 | MCOLN1, ML4, PNPLA6
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| Identification of the gene causing mucolipidosis type IV.
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| Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G.
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| Nat Genet 26(1):118-23. 2000
|