169 related articles for article (PubMed ID: 37407981)
1. Intraparenchymal convection enhanced delivery of AAV in sheep to treat Mucopolysaccharidosis IIIC.
O'Leary C; Forte G; Mitchell NL; Youshani AS; Dyer A; Wellby MP; Russell KN; Murray SJ; Jolinon N; Jones SA; Stacey K; Davis DM; Henckaerts E; Palmer DN; Kamaly-Asl I; Bigger BW
J Transl Med; 2023 Jul; 21(1):437. PubMed ID: 37407981
[TBL] [Abstract][Full Text] [Related]
2. A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency.
Tordo J; O'Leary C; Antunes ASLM; Palomar N; Aldrin-Kirk P; Basche M; Bennett A; D'Souza Z; Gleitz H; Godwin A; Holley RJ; Parker H; Liao AY; Rouse P; Youshani AS; Dridi L; Martins C; Levade T; Stacey KB; Davis DM; Dyer A; Clément N; Björklund T; Ali RR; Agbandje-McKenna M; Rahim AA; Pshezhetsky A; Waddington SN; Linden RM; Bigger BW; Henckaerts E
Brain; 2018 Jul; 141(7):2014-2031. PubMed ID: 29788236
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. An Improved Adeno-Associated Virus Vector for Neurological Correction of the Mouse Model of Mucopolysaccharidosis IIIA.
Gray AL; O'Leary C; Liao A; Agúndez L; Youshani AS; Gleitz HF; Parker H; Taylor JT; Danos O; Hocquemiller M; Palomar N; Linden RM; Henckaerts E; Holley RJ; Bigger BW
Hum Gene Ther; 2019 Sep; 30(9):1052-1066. PubMed ID: 31020862
[TBL] [Abstract][Full Text] [Related]
6.
Marcó S; Haurigot V; Bosch F
Hum Gene Ther; 2019 Oct; 30(10):1211-1221. PubMed ID: 31482754
[TBL] [Abstract][Full Text] [Related]
7. Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes.
Fraldi A; Hemsley K; Crawley A; Lombardi A; Lau A; Sutherland L; Auricchio A; Ballabio A; Hopwood JJ
Hum Mol Genet; 2007 Nov; 16(22):2693-702. PubMed ID: 17725987
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. Heparan Sulfate Binding Promotes Accumulation of Intravitreally Delivered Adeno-associated Viral Vectors at the Retina for Enhanced Transduction but Weakly Influences Tropism.
Woodard KT; Liang KJ; Bennett WC; Samulski RJ
J Virol; 2016 Nov; 90(21):9878-9888. PubMed ID: 27558418
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
