Results 41 to 50 of about 2,839 (212)

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. [PDF]

, 2020
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme.
Couce, Maria L., Otero, Francisco J., Piechnik, Matthew, Sawamoto, Kazuki, Suzuki, Yasuyuki, Tomatsu, Shunji, Álvarez González, José Víctor   +6 more
core   +2 more sources

Preparation and purification of Flavobacterium heparinum chondroitinases AC and B by hydrophobic interaction chromatography [PDF]

, 1999
Flavobacterium heparinum is a soil bacterium that produces several mucopolysaccharidases such as heparinase, heparitinases I and II, and chondroitinases AC, B, C and ABC. The purpose of the present study was to optimize the preparation of F.
Aguiar, Jair Adriano Kopke, Michelacci, Yara Maria   +1 more
core   +1 more source

Expression of five iduronate-2-sulfatase site-directed mutations

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2000
Five point mutations (R88H, R88P, T118I, 959delT, R468Q) previously identified in the iduronate-2-sulfatase (IDS) gene of Italian Hunter patients were expressed in COS cells to evaluate their functional consequence on enzyme activity, processing and intracellular localization.
VILLANI G. R, DANIELE, Aurora, BALZANO N, DI NATALE P.   +3 more
openaire   +3 more sources

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)

Molecular Genetics and Metabolism Reports, 2014
Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28.
H. Amartino, R. Ceci, F. Masllorens, A. Gal, C. Arberas, L. Bay, R. Ilari, J. Dipierri, N. Specola, A. Cabrera, P. Rozenfeld   +10 more
doaj   +1 more source

The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients

BMC Medical Genetics, 2020
Background Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accumulation of sulfated ...
L Chkioua, O Grissa, N Leban, M Gribaa, H Boudabous, H Ben Turkia, S Ferchichi, N Tebib, S Laradi   +8 more
doaj   +1 more source

Heparin and Heparan Sulfate: Analyzing Structure and Microheterogeneity [chapter] [PDF]

, 2012
available in PMC 2013 August 28The structural microheterogeneity of heparin and heparan sulfate is one of the major reasons for the multifunctionality exhibited by this class of molecules. In a physiological context, these molecules primarily exert their
A Bisio, A Canales, AJ Rhomberg, B Casu, B Casu, B Kuberan, B Kuberan, D Beccati, D Shukla, D Wardrop, DR Ferro, EA Yates, G Venkataraman, H Liu, I Capila, J Henriksen, J Liu, JJ Wolff, JR Myette, JR Myette, JR Myette, K Sugahara, L Chi, M Guerrini, M Guerrini, M Guerrini, M Guerrini, M Guerrini, M Salmivirta, NK Karamanos, OM Saad, OM Saad, OM Saad, P Juhasz, PN Sanderson, R Liu, R Raman, R Rej, RD Rosenberg, RJ Linhardt, RJ Linhardt, RJ Linhardt, S Ernst, S Faham, SE Guimond, T Toida, U Lindahl, U Lindahl, U Lindahl, X Shi   +49 more
core   +1 more source

Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting

JIMD Reports, 2021
Mucopolysaccharidosis type II (MPS II) is a multi‐systemic disorder arising due to pathogenic variants in the gene located on chromosome Xq28 encoding the lysosomal enzyme, iduronate 2‐sulfatase (IDS).
Maria Fuller, David Ketteridge
doaj   +1 more source

A case report of a patient with mucopolysaccharidosis type II

Revista Médica del Hospital General de México, 2017
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an inborn error of metabolism due to lysosomal accumulation, with a recessive inheritance pattern linked to the X chromosome.
M.R. Rivera Vega, H. García Vidaña, G. Pacheco Cuéllar, S.A. Cuevas-Covarrubias   +3 more
doaj   +1 more source

Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated with Mucopolysaccharidosis Type II Occurrence in Humans

Diagnostics, 2020
Mucopolysaccharidosis type II (MPS II) is an X-linked disorder resulting from a deficiency in iduronate 2-sulfatase (IDS), which is reported to be caused by gene mutations in the iduronate 2-sulfatase (IDS) gene.
Cheng-Yung Lin, Hsiang-Yu Lin, Chih-Kuang Chuang, Po-Hsiang Zhang, Ru-Yi Tu, Shuan-Pei Lin, Huai-Jen Tsai   +6 more
doaj   +1 more source

Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years [PDF]

, 2014
BACKGROUND: Hunter Syndrome is an X-linked lysosomal storage disorder due to the deficit of iduronate 2-sulfatase, an enzyme catalysing the degradation of the glycosaminoglycans (GAG) dermatan- and heparan-sulfate.
Agata Fiumara, Alessandra Zanetti, Andrea Borgo, Angelica Rampazzo, Anna Chiara Frigo, Antonia Pascarella, Daniela Concolino, Elena Procopio, Francesca D’Avanzo, Maurizio Scarpa, Nicoletta Gasparotto, Rosella Tomanin, Rossella Parini   +12 more
core   +1 more source