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Results: 1 to 20 of 104

1.

Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).

Fedele AO, Hopwood JJ.

Hum Mutat. 2010 Jul;31(7):E1574-86. doi: 10.1002/humu.21286.

PMID:
20583299
[PubMed - indexed for MEDLINE]
2.

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

Feldhammer M, Durand S, Mrázová L, Boucher RM, Laframboise R, Steinfeld R, Wraith JE, Michelakakis H, van Diggelen OP, Hrebícek M, Kmoch S, Pshezhetsky AV.

Hum Mutat. 2009 Jun;30(6):918-25. doi: 10.1002/humu.20986. Review.

PMID:
19479962
[PubMed - indexed for MEDLINE]
3.

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.

Fedele AO, Filocamo M, Di Rocco M, Sersale G, Lübke T, di Natale P, Cosma MP, Ballabio A.

Hum Mutat. 2007 May;28(5):523.

PMID:
17397050
[PubMed - indexed for MEDLINE]
4.

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, Wevers RA, Poorthuis BJ, Pshezhetsky AV, Wijburg FA.

Mol Genet Metab. 2008 Feb;93(2):104-11. Epub 2007 Nov 19.

PMID:
18024218
[PubMed - indexed for MEDLINE]
5.

Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.

Feldhammer M, Durand S, Pshezhetsky AV.

PLoS One. 2009 Oct 13;4(10):e7434. doi: 10.1371/journal.pone.0007434.

PMID:
19823584
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV.

Am J Hum Genet. 2006 Nov;79(5):807-19. Epub 2006 Sep 8.

PMID:
17033958
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC.

Durand S, Feldhammer M, Bonneil E, Thibault P, Pshezhetsky AV.

J Biol Chem. 2010 Oct 8;285(41):31233-42. doi: 10.1074/jbc.M110.141150. Epub 2010 Jul 22.

PMID:
20650889
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.

Huh HJ, Seo JY, Cho SY, Ki CS, Lee SY, Kim JW, Park HD, Jin DK.

Ann Lab Med. 2013 Jan;33(1):75-9. doi: 10.3343/alm.2013.33.1.75. Epub 2012 Dec 17.

PMID:
23301227
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).

Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ.

Am J Hum Genet. 2006 Oct;79(4):738-44. Epub 2006 Aug 23.

PMID:
16960811
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

An acetylated 120-kDa lysosomal transmembrane protein is absent from mucopolysaccharidosis IIIC fibroblasts: a candidate molecule for MPS IIIC.

Ausseil J, Landry K, Seyrantepe V, Trudel S, Mazur A, Lapointe F, Pshezhetsky AV.

Mol Genet Metab. 2006 Jan;87(1):22-31. Epub 2005 Nov 15.

PMID:
16293432
[PubMed - indexed for MEDLINE]
11.

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.

Canals I, Elalaoui SC, Pineda M, Delgadillo V, Szlago M, Jaouad IC, Sefiani A, Chabás A, Coll MJ, Grinberg D, Vilageliu L.

Clin Genet. 2011 Oct;80(4):367-74. doi: 10.1111/j.1399-0004.2010.01525.x. Epub 2010 Aug 2.

PMID:
20825431
[PubMed - indexed for MEDLINE]
12.

Genetic evidence for transmembrane acetylation by lysosomes.

Bame KJ, Rome LH.

Science. 1986 Sep 5;233(4768):1087-9.

PMID:
3090688
[PubMed - indexed for MEDLINE]
13.

Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts.

Klein U, Kresse H, von Figura K.

Proc Natl Acad Sci U S A. 1978 Oct;75(10):5185-9.

PMID:
33384
[PubMed - indexed for MEDLINE]
Free PMC Article
14.
15.

Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.

Ouesleti S, Brunel V, Ben Turkia H, Dranguet H, Miled A, Miladi N, Ben Dridi MF, Lavoinne A, Saugier-Veber P, Bekri S.

Clin Chim Acta. 2011 Nov 20;412(23-24):2326-31. doi: 10.1016/j.cca.2011.08.032. Epub 2011 Sep 2.

PMID:
21910976
[PubMed - indexed for MEDLINE]
16.

Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene.

Coutinho MF, Lacerda L, Prata MJ, Ribeiro H, Lopes L, Ferreira C, Alves S.

Clin Genet. 2008 Aug;74(2):194-5. doi: 10.1111/j.1399-0004.2008.01040.x. Epub 2008 Jun 2. No abstract available.

PMID:
18518886
[PubMed - indexed for MEDLINE]
17.

Immortalisation of a mucopolysaccharidosis type IIIC fibroblast cell line via expression of SV40 T antigen.

Nelson K, Melville EL, Meikle PJ, Anson DS.

Cell Biol Int. 2003;27(7):567-70.

PMID:
12842096
[PubMed - indexed for MEDLINE]
18.

NAGLU mutations underlying Sanfilippo syndrome type B.

Schmidtchen A, Greenberg D, Zhao HG, Li HH, Huang Y, Tieu P, Zhao HZ, Cheng S, Zhao Z, Whitley CB, Di Natale P, Neufeld EF.

Am J Hum Genet. 1998 Jan;62(1):64-9.

PMID:
9443878
[PubMed - indexed for MEDLINE]
Free PMC Article
19.
20.

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

Muschol N, Storch S, Ballhausen D, Beesley C, Westermann JC, Gal A, Ullrich K, Hopwood JJ, Winchester B, Braulke T.

Hum Mutat. 2004 Jun;23(6):559-66.

PMID:
15146460
[PubMed - indexed for MEDLINE]

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