261 related articles for article (PubMed ID: 26907177)
1. 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]
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. Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
Yogalingam G; Hopwood JJ
Hum Mutat; 2001 Oct; 18(4):264-81. PubMed ID: 11668611
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. Disease modeling for Mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells.
Huang W; Cheng YS; Yang S; Swaroop M; Xu M; Huang W; Zheng W
Exp Cell Res; 2021 Oct; 407(1):112785. PubMed ID: 34411609
[TBL] [Abstract][Full Text] [Related]
8. Accelerated clinical disease and pathology in mucopolysaccharidosis type IIIB and GalNAc transferase double knockout mice.
Mohammed EE; Snella EM; Rutz-Mendicino MM; Echevarria FD; Awedikian R; Whitley EM; Ellinwood NM
Mol Genet Metab; 2012 Sep; 107(1-2):129-35. PubMed ID: 22867887
[TBL] [Abstract][Full Text] [Related]
9. Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB.
Kan SH; Aoyagi-Scharber M; Le SQ; Vincelette J; Ohmi K; Bullens S; Wendt DJ; Christianson TM; Tiger PM; Brown JR; Lawrence R; Yip BK; Holtzinger J; Bagri A; Crippen-Harmon D; Vondrak KN; Chen Z; Hague CM; Woloszynek JC; Cheung DS; Webster KA; Adintori EG; Lo MJ; Wong W; Fitzpatrick PA; LeBowitz JH; Crawford BE; Bunting S; Dickson PI; Neufeld EF
Proc Natl Acad Sci U S A; 2014 Oct; 111(41):14870-5. PubMed ID: 25267636
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. 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]
12. Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome.
Kan SH; Elsharkawi I; Le SQ; Prill H; Mangini L; Cooper JD; Lawrence R; Sands MS; Crawford BE; Dickson PI
Mol Genet Metab; 2021 Jun; 133(2):185-192. PubMed ID: 33839004
[TBL] [Abstract][Full Text] [Related]
13. An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene.
Huang W; Xu M; Li R; Baskfield A; Kouznetsova J; Beers J; Zou J; Liu C; Zheng W
Stem Cell Res; 2019 May; 37():101427. PubMed ID: 30933722
[TBL] [Abstract][Full Text] [Related]
14. Murine cellular model of mucopolysaccharidosis, type IIIB (MPS IIIB) - A preliminary study with particular emphasis on the non-oxidative l-cysteine metabolism.
Kaczor-Kamińska M; Stalińska K; Kamiński K; Pisarek A; Maziarz U; Feldman A; Wróbel M
Biochimie; 2020 Jul; 174():84-94. PubMed ID: 32335228
[TBL] [Abstract][Full Text] [Related]
15. 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]
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. A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.
Truxal KV; Fu H; McCarty DM; McNally KA; Kunkler KL; Zumberge NA; Martin L; Aylward SC; Alfano LN; Berry KM; Lowes LP; Corridore M; McKee C; McBride KL; Flanigan KM
Mol Genet Metab; 2016 Nov; 119(3):239-248. PubMed ID: 27590925
[TBL] [Abstract][Full Text] [Related]
18. Near-Complete Correction of Profound Metabolomic Impairments Corresponding to Functional Benefit in MPS IIIB Mice after IV rAAV9-hNAGLU Gene Delivery.
Fu H; Meadows AS; Ware T; Mohney RP; McCarty DM
Mol Ther; 2017 Mar; 25(3):792-802. PubMed ID: 28143737
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. The Murine Model of Mucopolysaccharidosis IIIB Develops Cardiopathies over Time Leading to Heart Failure.
Schiattarella GG; Cerulo G; De Pasquale V; Cocchiaro P; Paciello O; Avallone L; Belfiore MP; Iacobellis F; Di Napoli D; Magliulo F; Perrino C; Trimarco B; Esposito G; Di Natale P; Pavone LM
PLoS One; 2015; 10(7):e0131662. PubMed ID: 26147524
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
