BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

227 related articles for article (PubMed ID: 25859010)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.
    Ouesleti S; Coutinho MF; Ribeiro I; Miled A; Mosbahi DS; Alves S
    World J Pediatr; 2017 Aug; 13(4):374-380. PubMed ID: 28101780
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Expanding the phenotypic and genotypic spectrum of patients with
    da Palma MM; Marra M; Igelman AD; Ku CA; Burr A; Andersen K; Everett LA; Porto FBO; Sallum JMF; Yang P; Pennesi ME
    Ophthalmic Genet; 2024 Apr; 45(2):167-174. PubMed ID: 37592806
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC.
    Marcó S; Pujol A; Roca C; Motas S; Ribera A; Garcia M; Molas M; Villacampa P; Melia CS; Sánchez V; Sánchez X; Bertolin J; Ruberte J; Haurigot V; Bosch F
    Dis Model Mech; 2016 Sep; 9(9):999-1013. PubMed ID: 27491071
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.