Results 31 to 40 of about 2,839 (212)

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

Bioinformatic Analysis of the Human Recombinant Iduronate 2-Sulfate Sulfatase [PDF]

The Open Microbiology Journal, 2016
Mucopolysaccharidosis type II is a human recessive disease linked to the X chromosome caused by deficiency of lysosomal enzyme Iduronate 2-Sulfate Sulfatase (IDS), which leads to accumulation of glycosaminoglycans in tissues and organs. The human enzyme has been expressed inEscherichia coliandPichia pastorisin attempt to develop more successful ...
Morales-Álvarez, Edwin D., Rivera-Hoyos, Claudia M., Landázuri, Patricia, Poutou-Piñales, Raúl A., Pedroza-Rodríguez, Aura M.   +4 more
openaire   +2 more sources

Autophagy in the retinal pigment epithelium: a new vision and future challenges

The FEBS Journal, Volume 289, Issue 22, Page 7199-7212, November 2022., 2022
RPE cells have different systems (mitophagy, ER‐phagy, xenophagy, lipophagy, ribophagy, pexophagy, aggrephagy, and LAP) for breaking down and recycling damaged materials, allowing them to reduce ‘waste’ and reuse the ‘raw material’. Autophagosomes and phagosomes work as recycler and they take care of the cellular waste transport to the ‘incinerator ...
Daniela Intartaglia, Giuliana Giamundo, Ivan Conte   +2 more
wiley   +1 more source

A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia

Clinical Case Reports, 2021
Mucopolysaccharidoses (MPSs) are a class of lysosomal storage disorders resulting in progressive disease manifestations and are caused by pathogenic variants in genes coding for enzymes needed to degrade glycosaminoglycans.
Solomie Jebessa Deribessa, Mekdes Endale Bisrat, Zewdu Terefework, Shane C. Quinonez   +3 more
doaj   +1 more source

Multiple sulfatase deficiency with neonatal manifestation. [PDF]

, 2014
Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue ...
Ballabio, A., Bernasconi, S., Braibanti, S., Frattini, D., Gabrielli, O., Galeazzi, T., Garavelli, L., Gargano, G., Gelmini, C., Iori, A., Iughetti, L., Ivanovski, I., Melli, N., Padella, L., Pedori, S., Pepe, S., Rosato, S., Santoro, L., Superti-Furga, A., Wischmeijer, A., Zampini, L.   +20 more
core   +1 more source

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

Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl

BMC Medical Genetics, 2019
Background Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disease occurs almost exclusively in
A. N. Semyachkina, E. Y. Voskoboeva, E. Y. Zakharova, E. A. Nikolaeva, I. V. Kanivets, A. D. Kolotii, G. V. Baydakova, M. N. Kharabadze, R. G. Kuramagomedova, N. V. Melnikova   +9 more
doaj   +1 more source

Sequence of the Human Iduronate 2-Sulfatase (IDS) Gene

Genomics, 1993
Deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS; EC 3.1.6.13) results in the storage of the glycosaminoglycans heparan sulfate and dermatan sulfate, which leads to the lysosomal storage disorder mucopolysaccharidosis type II. Three overlapping genomic clones derived from an X-chromosome-specific library containing the entire IDS gene were
P J, Wilson, C A, Meaney, J J, Hopwood, C P, Morris   +3 more
openaire   +2 more sources

Toxicology Study of Intra-Cisterna Magna Adeno-Associated Virus 9 Expressing Iduronate-2-Sulfatase in Rhesus Macaques

Molecular Therapy: Methods & Clinical Development, 2018
Hunter syndrome is an X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase. The severe form of this progressive, systemic, and neurodegenerative disease results in loss of cognitive skills and early death. Several
Juliette Hordeaux, Christian Hinderer, Tamara Goode, Elizabeth L. Buza, Peter Bell, Roberto Calcedo, Laura K. Richman, James M. Wilson   +7 more
doaj   +1 more source

Enzyme replacement therapies: What is the best option? [PDF]

, 2018
Despite many beneficial outcomes of the conventional enzyme replacement therapy (ERT), several limitations such as the high-cost of the treatment and various inadvertent side effects including the occurrence of an immunological response against the ...
Barar, Jaleh, Khiavi, Mostafa Akbarzadeh, Mousavi, Rahimeh, Rafi, Mohammad, Safary, Azam   +4 more
core   +2 more sources