193 related articles for article (PubMed ID: 20650889)
1. 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]
2. 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]
3. Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate.
Choi Y; Tuzikov AB; Ovchinnikova TV; Bovin NV; Pshezhetsky AV
JIMD Rep; 2015 Oct; 28():11-8. PubMed ID: 26493749
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Structure of the human heparan-α-glucosaminide
Navratna V; Kumar A; Rana JK; Mosalaganti S
bioRxiv; 2024 Jun; ():. PubMed ID: 37961489
[TBL] [Abstract][Full Text] [Related]
6. Structural and mechanistic insights into a lysosomal membrane enzyme HGSNAT involved in Sanfilippo syndrome.
Zhao B; Cao Z; Zheng Y; Nguyen P; Bowen A; Edwards RH; Stroud RM; Zhou Y; Van Lookeren Campagne M; Li F
Nat Commun; 2024 Jun; 15(1):5388. PubMed ID: 38918376
[TBL] [Abstract][Full Text] [Related]
7. Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C.
Pshezhetsky AV
Rare Dis; 2015; 3(1):e1049793. PubMed ID: 26459666
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Lysosomal N-acetyltransferase interacts with ALIX and is detected in extracellular vesicles.
Fedele AO; Isenmann S; Kamei M; Snel MF; Trim PJ; Proud CG; Hopwood JJ
Biochim Biophys Acta Mol Cell Res; 2018 Jul; 1865(10):1451-1464. PubMed ID: 29981367
[TBL] [Abstract][Full Text] [Related]
10. Genetic evidence for transmembrane acetylation by lysosomes.
Bame KJ; Rome LH
Science; 1986 Sep; 233(4768):1087-9. PubMed ID: 3090688
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. 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]
15. HGSNAT enzyme deficiency results in accumulation of heparan sulfate in podocytes and basement membranes.
Nagel L; Oliveira R; Pshezhetsky AV; Morales CR
Histol Histopathol; 2019 Dec; 34(12):1377-1385. PubMed ID: 31157913
[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. 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]
18. 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]
19. 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]
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]
