Results 41 to 50 of about 2,595 (198)

The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: item reduction and further validation [PDF]

, 2014
The adsorption of blood proteins, serum albumin (BSA), immunoglobulin G (IgG) and fibrinogen (FGN), onto model SiO2 planar surfaces coated with poly-l-lysine/heparin multilayers (PLL/HEP) has been investigated by means of ellipsometry and quartz crystal ...
Ingela Wiklund, Mireia Raluy-Callado, Wen-Hung Chen, Joseph Muenzer, Juanzhi Fang, David Whiteman   +5 more
core   +2 more sources

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

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

Diagnosing mucopolysaccharidosis IVA [PDF]

, 2013
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of
A Fujimoto, A James, A Megarbane, A Ohashi, A Tylki-Szymanska, AI Arbisser, AL Beaudet, AM Montano, AN Doman, Andrea Schenone, C Prat, CA Pennock, CB Whitley, CB Whitley, CG Summers, Christian J. Hendriksz, Chunli Yu, D Krakow, David Ketteridge, DH Cohn, DW Hollister, E Baker, E Wessler, EF Neufeld, G Gray, G Kohn, G Nishimura, GR Fraser, H Groebe, H Northover, H Zhao, Heather J. Church, HV Dyggve, J Glossl, J Glossl, J Muenzer, J Nelson, J Singh, J Spranger, JE Wraith, JE Wraith, Jerry N. Thompson, JG Jong de, JG Jong de, JJ Hopwood, JN Isenberg, JP Hintze, K Longdon, K Nakamura, K Ullrich, Karen Tylee, Katie Harvey, LA Martell, LS Levin, M Aldenhoven, M Beck, M Burin, M Masuno, M Piraud, M Shohat, Maira Graeff Burin, Marzia Pasquali, Michael Beck, Michael Fietz, MP Whyte, MV Camelier, Nicole Miller, OP Diggelen van, Otto P. van Diggelen, P Harmatz, Paul Harmatz, R Hata, R Humbel, R Lawrence, R Matalon, Roberto Giugliani, S Catarzi, S Chaisomchit, S Fukuda, S Gosele, S Pajares, S Tomatsu, S Tomatsu, S Tomatsu, S Tomatsu, S Tomatsu, Sara M. Hawley, SB Frazier, T Dierks, T Khaliq, T Oguma, T Wood, T Yutaka, TA Duffey, Timothy C. Wood, TJ Lehman, V El Ghouzzi, VA McKusick, Vânia D’Almeida, W Holzgreve, WJ Kleijer, Wuh-Liang Hwu, Y Miyamoto, Y Nakashima, Yin-Hsiu Chien, Zoltan Lukacs, ZS Gucev   +106 more
core   +4 more sources

Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) gene

Stem Cell Research, 2022
Mucopolysaccharidosis type II (Hunter Syndrome) is a rare X-linked inherited lysosomal storage disorder presenting a wide genetic heterogeneity. It is due to pathogenic variants in the IDS gene, causing the deficit of the lysosomal hydrolase iduronate 2 ...
Alessia Casamassa, Alessandra Zanetti, Daniela Ferrari, Ivan Lombardi, Gaia Galluzzi, Francesca D'Avanzo, Gabriella Cipressa, Alessia Bertozzi, Isabella Torrente, Angelo Luigi Vescovi, Rosella Tomanin, Jessica Rosati   +11 more
doaj   +1 more source

In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs [PDF]

, 2017
The transfer of genomic information into the primary RNA sequence can be altered by RNA editing. We have previously shown that genomic variants can be RNA-edited to wild-type. The presence of distinct “edited” iduronate 2-sulfatase (IDS) mRNA transcripts
Amico, Giulia, Bruschi, Maurizio, Candiano, Giovanni, Cooper, David Neil, Corsolini, Fabio, Dardis, Andrea, Del Zotto, Genny, Filocamo, Mirella, Lualdi, Susanna, Pedemonte, Nicoletta, Tomati, Valeria, Zegarra-Moran, Olga   +11 more
core   +2 more sources

In vitro correction of iduronate-2-sulfatase deficiency by adenovirus-mediated gene transfer [PDF]

Gene Therapy, 1997
Hunter syndrome is a lethal lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase and characterized by severe skeletal and neurological symptoms. Only symptomatic treatments are available and, although bone marrow transplantation has been suggested, no encouraging results have been obtained so far.
DIFRANCESCO C, CRACCO C, TOMANIN R, PICCI L, VENTURA L, ZACCHELLO, FRANCO, DINATALE P, ANSON DS, HOPWOOD JJ, GRAHAM FL, SCARPA, MAURIZIO   +10 more
openaire   +3 more sources

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

Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II

Molecular Genetics and Metabolism Reports, 2023
Mucopolysaccharidosis type II (MPS II, OMIM 309900) is an X-linked disorder caused by a deficiency of lysosomal enzyme iduronate-2-sulfatase (IDS). The clinical manifestations of MPS II involve cognitive decline, bone deformity, and visceral disorders ...
Narutoshi Yamazaki, Mari Ohira, Shuji Takada, Akira Ohtake, Masafumi Onodera, Mahito Nakanishi, Torayuki Okuyama, Ryuichi Mashima   +7 more
doaj   +1 more source

"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline [PDF]

, 2014
Background In developing countries, many cases with rare neurological diseases remain undiagnosed due to limited diagnostic experience. We encountered a case in China where two siblings both began to develop idiopathic progressive cognitive decline ...
Anding Xu, Bingxiao Li, Gholson J Lyon, Kai Wang, Lingling Shi, Tianyun Liu, Xueying Ling, Yonglan Huang   +7 more
core   +1 more source