189 related articles for article (PubMed ID: 23301227)
1. 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]
2. 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]
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. 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]
5. A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB.
Kim YE; Park HD; Jang MA; Ki CS; Lee SY; Kim JW; Cho SY; Jin DK
Ann Lab Med; 2013 May; 33(3):221-4. PubMed ID: 23667853
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
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. 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]
13. Glycosaminoglycans and mucopolysaccharidosis type III.
Jakobkiewicz-Banecka J; Gabig-Ciminska M; Kloska A; Malinowska M; Piotrowska E; Banecka-Majkutewicz Z; Banecki B; Wegrzyn A; Wegrzyn G
Front Biosci (Landmark Ed); 2016 Jun; 21(7):1393-409. PubMed ID: 27100513
[TBL] [Abstract][Full Text] [Related]
14. Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C).
Hu H; Hübner C; Lukacs Z; Musante L; Gill E; Wienker TF; Ropers HH; Knierim E; Schuelke M
Eur J Hum Genet; 2017 Feb; 25(2):253-256. PubMed ID: 27827379
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Lysosomal storage of heparan sulfate causes mitochondrial defects, altered autophagy, and neuronal death in the mouse model of mucopolysaccharidosis III type C.
Pshezhetsky AV
Autophagy; 2016 Jun; 12(6):1059-60. PubMed ID: 25998837
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 20825431
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 17033958
[TBL] [Abstract][Full Text] [Related]
19. Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
Martins C; de Medeiros PFV; Leistner-Segal S; Dridi L; Elcioglu N; Wood J; Behnam M; Noyan B; Lacerda L; Geraghty MT; Labuda D; Giugliani R; Pshezhetsky AV
Hum Mutat; 2019 Aug; 40(8):1084-1100. PubMed ID: 31228227
[TBL] [Abstract][Full Text] [Related]
20. Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC.
Pan X; Caillon A; Fan S; Khan S; Tomatsu S; Pshezhetsky AV
Cells; 2024 May; 13(10):. PubMed ID: 38786099
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
