| Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome). | 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., Free PMC Article | 06/18/2024 |
| Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy. | Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.
da Palma MM, Marra M, Igelman AD, Ku CA, Burr A, Andersen K, Everett LA, Porto FBO, Sallum JMF, Yang P, Pennesi ME. | 04/4/2024 |
| Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene. | 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. | 07/24/2023 |
| Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family. | Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family.
Long Y, Li S, Dai L, Liu X, Yin X, Ren J, Guo H, Liu Y, Meng X, Li S. | 06/26/2021 |
| A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. | 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., Free PMC Article | 06/5/2021 |
| Study reports molecular analysis defects in the HGSNAT gene in the largest group of mucopolysaccharidosis type IIIC (MPSIIIC) patients studied so far increasing the total number of HGSNAT variants associated with MPSIIIC to 71. Additionally, some of these variants show common ancestor haplotypes; others are several founder mutations. | 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. | 04/4/2020 |
| A homozygous variant in HGSNAT identified in two siblings with Kluver-Bucy syndrome and Mucopolysaccharidosis type IIIC. | 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., Free PMC Article | 07/8/2017 |
| Promoter variants rs4523300 and rs149596192 did not have a measurable impact on HGSNAT enzyme activity in MPS IIIC patients carrying them. | 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. | 02/18/2017 |
| Mutation id HGSNAT is associated with non-syndromic retinitis pigmentosa . | 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., Free PMC Article | 04/30/2016 |
| Identification of novel HGSNAT mutations in Sanfilippo syndrome type C Spanish patients. | 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. | 08/31/2013 |
| Characterization of the biosynthesis, processing and kinetic mechanism of heparin acetyl-CoA:alpha-glucosaminide N-acetyltransferase | Characterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis IIIC.
Fan X, Tkachyova I, Sinha A, Rigat B, Mahuran D., Free PMC Article | 02/4/2012 |
| intralysosomal oligomerization and proteolytic cleavage as two steps crucial for functional activation of HGSNAT. | 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., Free PMC Article | 11/6/2010 |
| Data suggests that mutations may function together to abolish HGSNAT activity. | Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).
Fedele AO, Hopwood JJ. | 10/23/2010 |
| HGSNAT misfolding may have a role in mucopolysaccharidosis III type C | Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
Feldhammer M, Durand S, Pshezhetsky AV., Free PMC Article | 03/15/2010 |
| three patients with mucopolysaccharidosis IIIC harbored two different mutations c.525dupT and c.372-2A-->G (Table 1), both of which were previously unreported | 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. | 01/21/2010 |
| gene encoding the enzyme deficient in mucopolysaccharidosis IIIC was identified as HGSNAT; mutational analyses identified a splice-junction mutation that accounted for three mutant alleles, and a single base-pair insertion accounted for the fourth | 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., Free PMC Article | 01/21/2010 |
| 2.6-cM interval between D8S1051 and D8S1831 and identification of TMEM76, which encodes a 73-kDa protein with predicted multiple transmembrane domains and glycosylation sites, as the gene that causes MPS IIIC when it is mutated | 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., Free PMC Article | 01/21/2010 |
| mutational analysis of HGSNAT in Italian Sanfilippo C syndrome patients resulted in identification of 9 alleles (8 novel)-- 3 splice-site mutations, 3 frameshift deletions resulting in premature stop codons, 1 nonsense mutation & 2 missense mutations | 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. | 01/21/2010 |