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Items: 1 to 20 of 179

1.

Varied mechanisms underlie the free sialic acid storage disorders.

Wreden CC, Wlizla M, Reimer RJ.

J Biol Chem. 2005 Jan 14;280(2):1408-16. Epub 2004 Oct 29.

2.

Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin.

Aula N, Jalanko A, Aula P, Peltonen L.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):99-107.

PMID:
12359136
3.

Molecular pathogenesis of sialic acid storage diseases: insight gained from four missense mutations and a putative polymorphism of human sialin.

Ruivo R, Sharifi A, Boubekeur S, Morin P, Anne C, Debacker C, Graziano JC, Sagné C, Gasnier B.

Biol Cell. 2008 Sep;100(9):551-9. doi: 10.1042/BC20070166.

PMID:
18399798
4.

Prenatal diagnosis of free sialic acid storage disorders (SASD).

Aula N, Aula P.

Prenat Diagn. 2006 Aug;26(8):655-8.

PMID:
16715535
5.

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.

Kleta R, Aughton DJ, Rivkin MJ, Huizing M, Strovel E, Anikster Y, Orvisky E, Natowicz M, Krasnewich D, Gahl WA.

Am J Med Genet A. 2003 Jul 1;120A(1):28-33.

PMID:
12794688
6.

Functional characterization of vesicular excitatory amino acid transport by human sialin.

Miyaji T, Omote H, Moriyama Y.

J Neurochem. 2011 Oct;119(1):1-5. doi: 10.1111/j.1471-4159.2011.07388.x. Epub 2011 Aug 22.

7.

Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.

Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA.

Mol Genet Metab. 2004 Jun;82(2):137-43.

PMID:
15172001
8.

Sialin expression in the CNS implicates extralysosomal function in neurons.

Aula N, Kopra O, Jalanko A, Peltonen L.

Neurobiol Dis. 2004 Mar;15(2):251-61.

PMID:
15006695
9.

A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.

Landau D, Cohen D, Shalev H, Pinsk V, Yerushalmi B, Zeigler M, Birk OS.

Mol Genet Metab. 2004 Jun;82(2):167-72.

PMID:
15172005
10.

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.

Martin RA, Slaugh R, Natowicz M, Pearlman K, Orvisky E, Krasnewich D, Kleta R, Huizing M, Gahl WA.

Am J Med Genet A. 2003 Jul 1;120A(1):23-7.

PMID:
12794687
11.

Functional characterization of wild-type and mutant human sialin.

Morin P, Sagné C, Gasnier B.

EMBO J. 2004 Nov 24;23(23):4560-70. Epub 2004 Oct 28.

12.

Salla disease and ISSD--what does the future hold?

Strehle EM.

Mol Genet Metab. 2004 Jun;82(2):99-100. No abstract available.

PMID:
15171996
13.

Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.

Biancheri R, Rossi A, Verbeek HA, Schot R, Corsolini F, Assereto S, Mancini GM, Verheijen FW, Minetti C, Filocamo M.

Neurogenetics. 2005 Dec;6(4):195-9. Epub 2005 Sep 17.

PMID:
16170568
14.

Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes.

Courville P, Quick M, Reimer RJ.

J Biol Chem. 2010 Jun 18;285(25):19316-23. doi: 10.1074/jbc.M110.130716. Epub 2010 Apr 27.

15.

Molecular physiology and pathophysiology of lysosomal membrane transporters.

Sagné C, Gasnier B.

J Inherit Metab Dis. 2008 Apr;31(2):258-66. doi: 10.1007/s10545-008-0879-9. Epub 2008 Apr 15. Review.

PMID:
18425435
16.

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.

Aula N, Salomäki P, Timonen R, Verheijen F, Mancini G, Månsson JE, Aula P, Peltonen L.

Am J Hum Genet. 2000 Oct;67(4):832-40. Epub 2000 Aug 17.

17.

A vesicular transporter that mediates aspartate and glutamate neurotransmission.

Miyaji T, Omote H, Moriyama Y.

Biol Pharm Bull. 2010;33(11):1783-5.

18.

Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane.

Qin L, Liu X, Sun Q, Fan Z, Xia D, Ding G, Ong HL, Adams D, Gahl WA, Zheng C, Qi S, Jin L, Zhang C, Gu L, He J, Deng D, Ambudkar IS, Wang S.

Proc Natl Acad Sci U S A. 2012 Aug 14;109(33):13434-9. doi: 10.1073/pnas.1116633109. Epub 2012 Jul 9.

19.

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM.

Nat Genet. 1999 Dec;23(4):462-5.

PMID:
10581036
20.

Sialic acid storage disease and related disorders.

Strehle EM.

Genet Test. 2003 Summer;7(2):113-21. Review.

PMID:
12885332
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