| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | ML4
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| The molecular basis of mucolipidosis type IV.
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| Slaugenhaupt SA.
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| Curr Mol Med 2(5):445-50. Review. 2002
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| 10 | 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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| 11 | 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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| 12 | 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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| 13 | 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
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| 14 | ML4
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| Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.
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| Slaugenhaupt SA, et al.
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| Am J Hum Genet 65(3):773-8 1999
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| 15 | ML4
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| Constitutive achlorhydria in mucolipidosis type IV.
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| Schiffmann R, et al.
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| Proc Natl Acad Sci U S A 95(3):1207-12 1998
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| 16 | ML4
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| Mucolipidosis type IV: clinical spectrum and natural history.
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| Amir N, et al.
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| Pediatrics 79(6):953-9 1987
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