114 related articles for article (PubMed ID: 27452122)
1. HGSNAT has a TATA-less promoter with multiple starts of transcription.
Richtrova E; Mrazova LS; Musalkova D; Luksan O; Stolnaya L; Minks J; Lukas J; Dvorakova L; Jirsa M; Hrebicek M
Gene; 2016 Oct; 592(1):36-42. PubMed ID: 27452122
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 20583299
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 19479962
[TBL] [Abstract][Full Text] [Related]
4. Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Haer-Wigman L; Newman H; Leibu R; Bax NM; Baris HN; Rizel L; Banin E; Massarweh A; Roosing S; Lefeber DJ; Zonneveld-Vrieling MN; Isakov O; Shomron N; Sharon D; Den Hollander AI; Hoyng CB; Cremers FP; Ben-Yosef T
Hum Mol Genet; 2015 Jul; 24(13):3742-51. PubMed ID: 25859010
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 17397050
[TBL] [Abstract][Full Text] [Related]
6. Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.
Liang Y; Gao X; Lu D; Zhang H; Zhang
Metab Brain Dis; 2023 Aug; 38(6):2013-2023. PubMed ID: 37014526
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 23301227
[TBL] [Abstract][Full Text] [Related]
8. Histological characterization of retinal degeneration in mucopolysaccharidosis type IIIC.
Ludwig J; Sawant OB; Wood J; Singamsetty S; Pan X; Bonilha VL; Rao S; Pshezhetsky AV
Exp Eye Res; 2023 Apr; 229():109433. PubMed ID: 36858249
[TBL] [Abstract][Full Text] [Related]
9. Characterization of the human intestinal CD98 promoter and its regulation by interferon-gamma.
Yan Y; Dalmasso G; Sitaraman S; Merlin D
Am J Physiol Gastrointest Liver Physiol; 2007 Feb; 292(2):G535-45. PubMed ID: 17023546
[TBL] [Abstract][Full Text] [Related]
10. 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; 285(41):31233-42. PubMed ID: 20650889
[TBL] [Abstract][Full Text] [Related]
11. Drosophila melanogaster models of MPS IIIC (Hgsnat-deficiency) highlight the role of glia in disease presentation.
Hewson L; Choo A; Webber DL; Trim PJ; Snel MF; Fedele AO; Hopwood JJ; Hemsley KM; O'Keefe LV
J Inherit Metab Dis; 2024 Mar; 47(2):340-354. PubMed ID: 38238109
[TBL] [Abstract][Full Text] [Related]
12. Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
Feldhammer M; Durand S; Pshezhetsky AV
PLoS One; 2009 Oct; 4(10):e7434. PubMed ID: 19823584
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 18024218
[TBL] [Abstract][Full Text] [Related]
14. NF-κB, Sp1 and NF-Y as transcriptional regulators of human SND1 gene.
Armengol S; Arretxe E; Rodríguez L; Ochoa B; Chico Y; Martínez MJ
Biochimie; 2013 Apr; 95(4):735-42. PubMed ID: 23160072
[TBL] [Abstract][Full Text] [Related]
15. Characterization of the human Activin-A receptor type II-like kinase 1 (ACVRL1) promoter and its regulation by Sp1.
Garrido-Martin EM; Blanco FJ; Fernandez-L A; Langa C; Vary CP; Lee UE; Friedman SL; Botella LM; Bernabeu C
BMC Mol Biol; 2010 Jun; 11():51. PubMed ID: 20587022
[TBL] [Abstract][Full Text] [Related]
16. Sp1 and AP2 enhance promoter activity of the mouse GM3-synthase gene.
Xia T; Zeng G; Gao L; Yu RK
Gene; 2005 May; 351():109-18. PubMed ID: 15890474
[TBL] [Abstract][Full Text] [Related]
17. A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff ER; Daich Varela M; Robson AG; Pierpoint K; Ba-Abbad R; Nutan S; Zein WM; Ullah E; Huryn LA; Tuupanen S; Mahroo OA; Michaelides M; Burke D; Harvey K; Arno G; Hufnagel RB; Webster AR
Am J Med Genet C Semin Med Genet; 2020 Sep; 184(3):631-643. PubMed ID: 32770643
[TBL] [Abstract][Full Text] [Related]
18. Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
Zhao H; Wang L; Zhang M; Wang H; Zhang S; Wu J; Tang Y
J Cell Mol Med; 2024 Apr; 28(8):e18307. PubMed ID: 38613342
[TBL] [Abstract][Full Text] [Related]
19. Counter regulation of ECRG4 gene expression by hypermethylation-dependent inhibition and the Sp1 transcription factor-dependent stimulation of the c2orf40 promoter.
Dang X; Zeng X; Coimbra R; Eliceiri BP; Baird A
Gene; 2017 Dec; 636():103-111. PubMed ID: 28870864
[TBL] [Abstract][Full Text] [Related]
20. Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT.
Pan X; Taherzadeh M; Bose P; Heon-Roberts R; Nguyen ALA; Xu T; Pará C; Yamanaka Y; Priestman DA; Platt FM; Khan S; Fnu N; Tomatsu S; Morales CR; Pshezhetsky AV
J Exp Med; 2022 Aug; 219(8):. PubMed ID: 35704026
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
