129 related articles for article (PubMed ID: 28836185)
1. High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB.
Meijer OLM; van den Biggelaar P; Ofman R; Wijburg FA; van Vlies N
JIMD Rep; 2018; 39():97-106. PubMed ID: 28836185
[TBL] [Abstract][Full Text] [Related]
2. Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature.
Meijer OLM; Te Brinke H; Ofman R; IJlst L; Wijburg FA; van Vlies N
Mol Genet Metab; 2017 Sep; 122(1-2):100-106. PubMed ID: 28751108
[TBL] [Abstract][Full Text] [Related]
3. Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.
Meijer OLM; Welling L; Valstar MJ; Hoefsloot LH; Brüggenwirth HT; van der Ploeg AT; Ruijter GJG; Wagemans T; Wijburg FA; van Vlies N
J Inherit Metab Dis; 2016 May; 39(3):437-445. PubMed ID: 26907177
[TBL] [Abstract][Full Text] [Related]
4. Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient.
Vallejo-Diez S; Fleischer A; Martín-Fernández JM; Sánchez-Gilabert A; Bachiller D
Stem Cell Res; 2018 Dec; 33():180-184. PubMed ID: 30408744
[TBL] [Abstract][Full Text] [Related]
5. [Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)].
Zhang WM; Shi HP; Meng Y; Li BT; Qiu ZQ; Liu JT
Zhonghua Er Ke Za Zhi; 2008 Jun; 46(6):407-10. PubMed ID: 19099774
[TBL] [Abstract][Full Text] [Related]
6. Insulin Receptor Antibody-α-N-Acetylglucosaminidase Fusion Protein Penetrates the Primate Blood-Brain Barrier and Reduces Glycosoaminoglycans in Sanfilippo Type B Fibroblasts.
Boado RJ; Lu JZ; Hui EK; Lin H; Pardridge WM
Mol Pharm; 2016 Apr; 13(4):1385-92. PubMed ID: 26910785
[TBL] [Abstract][Full Text] [Related]
7. Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum.
Cressant A; Desmaris N; Verot L; Bréjot T; Froissart R; Vanier MT; Maire I; Heard JM
J Neurosci; 2004 Nov; 24(45):10229-39. PubMed ID: 15537895
[TBL] [Abstract][Full Text] [Related]
8. Differential Uptake of NAGLU-IGF2 and Unmodified NAGLU in Cellular Models of Sanfilippo Syndrome Type B.
Prill H; Luu A; Yip B; Holtzinger J; Lo MJ; Christianson TM; Yogalingam G; Aoyagi-Scharber M; LeBowitz JH; Crawford BE; Lawrence R
Mol Ther Methods Clin Dev; 2019 Sep; 14():56-63. PubMed ID: 31309128
[TBL] [Abstract][Full Text] [Related]
9. Iminosugar C-Glycosides Work as Pharmacological Chaperones of NAGLU, a Glycosidase Involved in MPS IIIB Rare Disease*.
Zhu S; Jagadeesh Y; Tran AT; Imaeda S; Boraston A; Alonzi DS; Poveda A; Zhang Y; Désiré J; Charollais-Thoenig J; Demotz S; Kato A; Butters TD; Jiménez-Barbero J; Sollogoub M; Blériot Y
Chemistry; 2021 Aug; 27(44):11291-11297. PubMed ID: 34106504
[TBL] [Abstract][Full Text] [Related]
10. Clearance of Heparan Sulfate and Attenuation of CNS Pathology by Intracerebroventricular BMN 250 in Sanfilippo Type B Mice.
Aoyagi-Scharber M; Crippen-Harmon D; Lawrence R; Vincelette J; Yogalingam G; Prill H; Yip BK; Baridon B; Vitelli C; Lee A; Gorostiza O; Adintori EG; Minto WC; Van Vleet JL; Yates B; Rigney S; Christianson TM; Tiger PMN; Lo MJ; Holtzinger J; Fitzpatrick PA; LeBowitz JH; Bullens S; Crawford BE; Bunting S
Mol Ther Methods Clin Dev; 2017 Sep; 6():43-53. PubMed ID: 28664165
[TBL] [Abstract][Full Text] [Related]
11. Disease correction in mucopolysaccharidosis type IIIB mice by intraparenchymal or cisternal delivery of a capsid modified AAV8 codon-optimized NAGLU vector.
Rouse CJ; Hawkins K; Kabbej N; Dalugdug J; Kunta A; Kim MJ; Someya S; Herbst Z; Gelb M; Dinelli I; Butterworth E; Falk DJ; Rosenkrantz E; Elmohd H; Khaledi H; Mowafy S; Ashby F; Heldermon CD
Hum Mol Genet; 2023 Jan; 32(3):417-430. PubMed ID: 35997776
[TBL] [Abstract][Full Text] [Related]
12. Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy.
Holley RJ; Ellison SM; Fil D; O'Leary C; McDermott J; Senthivel N; Langford-Smith AWW; Wilkinson FL; D'Souza Z; Parker H; Liao A; Rowlston S; Gleitz HFE; Kan SH; Dickson PI; Bigger BW
Brain; 2018 Jan; 141(1):99-116. PubMed ID: 29186350
[TBL] [Abstract][Full Text] [Related]
13. BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pathogenesis.
Yogalingam G; Luu AR; Prill H; Lo MJ; Yip B; Holtzinger J; Christianson T; Aoyagi-Scharber M; Lawrence R; Crawford BE; LeBowitz JH
PLoS One; 2019; 14(1):e0207836. PubMed ID: 30657762
[TBL] [Abstract][Full Text] [Related]
14. Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene.
Pierzynowska K; Mański A; Limanówka M; Wierzba J; Gaffke L; Anikiej P; Węgrzyn G
Mol Genet Genomic Med; 2020 Sep; 8(9):e1356. PubMed ID: 32578945
[TBL] [Abstract][Full Text] [Related]
15. A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis.
Khorrami M; Mahdavi M; Fakhr F; Kheirollahi M
Iran J Child Neurol; 2019; 13(4):173-183. PubMed ID: 31645877
[TBL] [Abstract][Full Text] [Related]
16. Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.
Li J; Xie H; Jiang Y
BMC Med Genet; 2018 Apr; 19(1):51. PubMed ID: 29606097
[TBL] [Abstract][Full Text] [Related]
17. Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice.
Clarke D; Pearse Y; Kan SH; Le SQ; Sanghez V; Cooper JD; Dickson PI; Iacovino M
Mol Ther Methods Clin Dev; 2018 Sep; 10():113-127. PubMed ID: 30101150
[TBL] [Abstract][Full Text] [Related]
18. Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Montenegro YHA; de Souza CFM; Kubaski F; Trapp FB; Burin MG; Michelin-Tirelli K; Leistner-Segal S; Facchin ACB; Medeiros FS; Giugliani L; Ribeiro EM; Lourenço CM; Cardoso-Dos-Santos AC; Ribeiro MG; Kim CA; Castro MAA; Embiruçu EK; Steiner CE; Moreira MLC; Montano HQ; Baldo G; Giugliani R
Am J Med Genet A; 2022 Mar; 188(3):760-767. PubMed ID: 34806811
[TBL] [Abstract][Full Text] [Related]
19. Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family.
Gun Bilgic D; Gerik Celebi HB; Aydin Gumus A; Bilgic A; Yazici H; Ceylaner S; Yilmaz C; Polat M; Akbal Sahin M; Dereli F; Cam FS
J Clin Neurosci; 2020 Dec; 82(Pt B):214-218. PubMed ID: 33246910
[TBL] [Abstract][Full Text] [Related]
20. A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs.
Ellinwood NM; Wang P; Skeen T; Sharp NJ; Cesta M; Decker S; Edwards NJ; Bublot I; Thompson JN; Bush W; Hardam E; Haskins ME; Giger U
J Inherit Metab Dis; 2003; 26(5):489-504. PubMed ID: 14518829
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
