Citations for
1MCOLN1, 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
2MCOLN1, 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
3MCOLN1, 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
4MCOLN1, 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
5MCOLN1, 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
6MCOLN1, 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
7MCOLN1, 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
8MCOLN1, 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
9ML4
The molecular basis of mucolipidosis type IV.
Slaugenhaupt SA.
Curr Mol Med 2(5):445-50. Review. 2002
10MCOLN1, 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
11MCOLN1, 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
12MCOLN1, 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
13MCOLN1, 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
14ML4
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.
Slaugenhaupt SA, et al.
Am J Hum Genet 65(3):773-8 1999
15ML4
Constitutive achlorhydria in mucolipidosis type IV.
Schiffmann R, et al.
Proc Natl Acad Sci U S A 95(3):1207-12 1998
16ML4
Mucolipidosis type IV: clinical spectrum and natural history.
Amir N, et al.
Pediatrics 79(6):953-9 1987