scholarly journals High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB

2017 ◽  
pp. 97-106 ◽  
Author(s):  
O. L. M. Meijer ◽  
P. van den Biggelaar ◽  
R. Ofman ◽  
F. A. Wijburg ◽  
N. van Vlies
Keyword(s):  
Enzyme Activity ◽  
High Throughput ◽  
Mucopolysaccharidosis Type ◽  
Residual Enzyme Activity ◽  
High Throughput Screen ◽  
Type Iiib ◽  
Mucopolysaccharidosis Type Iiib

scholarly journals The neurobehavioral phenotype in mucopolysaccharidosis Type IIIB: An exploratory study

2016 ◽  
Vol 6 ◽  
pp. 41-47 ◽  
Author(s):  
E. Shapiro ◽  
K. King ◽  
A. Ahmed ◽  
K. Rudser ◽  
R. Rumsey ◽  
...  
Keyword(s):  
Exploratory Study ◽  
Mucopolysaccharidosis Type ◽  
Type Iiib ◽  
Mucopolysaccharidosis Type Iiib

Processing and trafficking of N-acetyl-α-glucosaminidase in fibroblasts of patients with mucopolysaccharidosis type IIIB

2017 ◽  
Vol 120 (1-2) ◽  
pp. S95
Author(s):  
Olga L Meijer ◽  
Heleen te Brinke ◽  
Rob Ofman ◽  
Lodewijk IJlst ◽  
Naomi van Vlies ◽  
...  
Keyword(s):  
Mucopolysaccharidosis Type ◽  
Type Iiib ◽  
Mucopolysaccharidosis Type Iiib

Murine cellular model of mucopolysaccharidosis, type IIIB (MPS IIIB) – A preliminary study with particular emphasis on the non-oxidative l-cysteine metabolism

Biochimie ◽  
2020 ◽  
Vol 174 ◽  
pp. 84-94
Author(s):  
Marta Kaczor-Kamińska ◽  
Krystyna Stalińska ◽  
Kamil Kamiński ◽  
Aleksandra Pisarek ◽  
Urszula Maziarz ◽  
...  
Keyword(s):  
Mucopolysaccharidosis Type ◽  
Cellular Model ◽  
Cysteine Metabolism ◽  
Type Iiib ◽  
Preliminary Study ◽  
Mucopolysaccharidosis Type Iiib

Enhanced degradation of synaptophysin by the proteasome in mucopolysaccharidosis type IIIB

2009 ◽  
Vol 41 (1) ◽  
pp. 8-18 ◽  
Author(s):  
Sandrine Vitry ◽  
Jérôme Ausseil ◽  
Michael Hocquemiller ◽  
Stéphanie Bigou ◽  
Renata dos Santos Coura ◽  
...  
Keyword(s):  
Mucopolysaccharidosis Type ◽  
Type Iiib ◽  
Mucopolysaccharidosis Type Iiib ◽  
Enhanced Degradation

Processing of mutant N -acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature

2017 ◽  
Vol 122 (1-2) ◽  
pp. 100-106 ◽  
Author(s):  
O.L.M. Meijer ◽  
H. te Brinke ◽  
R. Ofman ◽  
L. IJlst ◽  
F.A. Wijburg ◽  
...  
Keyword(s):  
Low Temperature ◽  
Mucopolysaccharidosis Type ◽  
Type Iiib ◽  
Mucopolysaccharidosis Type Iiib
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