Slaugenhaupt SA - Search Results

1

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. LaPlante JM, et al. Among authors: slaugenhaupt sa. FEBS Lett. 2002 Dec 4;532(1-2):183-7. doi: 10.1016/s0014-5793(02)03670-0. FEBS Lett. 2002. PMID: 12459486 Free article.

2

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. LaPlante JM, et al. Among authors: slaugenhaupt sa. Biochem Biophys Res Commun. 2004 Oct 1;322(4):1384-91. doi: 10.1016/j.bbrc.2004.08.045. Biochem Biophys Res Commun. 2004. PMID: 15336987

3

Lysosomal exocytosis is impaired in mucolipidosis type IV.

LaPlante JM, Sun M, Falardeau J, Dai D, Brown EM, Slaugenhaupt SA, Vassilev PM. LaPlante JM, et al. Among authors: slaugenhaupt sa. Mol Genet Metab. 2006 Dec;89(4):339-48. doi: 10.1016/j.ymgme.2006.05.016. Epub 2006 Aug 17. Mol Genet Metab. 2006. PMID: 16914343

4

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. LaPlante JM, et al. Among authors: slaugenhaupt sa. Exp Cell Res. 2011 Apr 1;317(6):691-705. doi: 10.1016/j.yexcr.2011.01.008. Epub 2011 Jan 20. Exp Cell Res. 2011. PMID: 21256127 Free PMC article.

5

Chaperone-mediated autophagy is defective in mucolipidosis type IV.

Venugopal B, Mesires NT, Kennedy JC, Curcio-Morelli C, Laplante JM, Dice JF, Slaugenhaupt SA. Venugopal B, et al. Among authors: slaugenhaupt sa. J Cell Physiol. 2009 May;219(2):344-53. doi: 10.1002/jcp.21676. J Cell Physiol. 2009. PMID: 19117012

6

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS Jr, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA. Sun M, et al. Among authors: slaugenhaupt sa. Hum Mol Genet. 2000 Oct 12;9(17):2471-8. doi: 10.1093/hmg/9.17.2471. Hum Mol Genet. 2000. PMID: 11030752

7

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. Acierno JS Jr, et al. Among authors: slaugenhaupt sa. Genomics. 2001 Apr 15;73(2):203-10. doi: 10.1006/geno.2001.6526. Genomics. 2001. PMID: 11318610

8

Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans.

Falardeau JL, Kennedy JC, Acierno JS Jr, Sun M, Stahl S, Goldin E, Slaugenhaupt SA. Falardeau JL, et al. Among authors: slaugenhaupt sa. BMC Genomics. 2002;3:3. doi: 10.1186/1471-2164-3-3. Epub 2002 Feb 5. BMC Genomics. 2002. PMID: 11897010 Free PMC article.

9

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. Altarescu G, et al. Among authors: slaugenhaupt sa. Neurology. 2002 Aug 13;59(3):306-13. doi: 10.1212/wnl.59.3.306. Neurology. 2002. PMID: 12182165

10

The molecular basis of mucolipidosis type IV.

Slaugenhaupt SA. Slaugenhaupt SA. Curr Mol Med. 2002 Aug;2(5):445-50. doi: 10.2174/1566524023362276. Curr Mol Med. 2002. PMID: 12125810 Review.

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