Zobrazeno 1 - 10
of 82
pro vyhledávání: '"MPS IIIB"'
Publikováno v:
Folia Medica, Vol 65, Iss 1, Pp 161-165 (2023)
Mucopolysaccharidosis type IIIB (MPS IIIB), also known as Sanfilippo syndrome type B, is a metabolic disease caused by mutations in both alleles of the NAGLU gene encoding for the enzyme α-N-acetylglucosaminidase. A malfunction of this enzyme causes
Externí odkaz:
https://doaj.org/article/889739d893ad41a7a283ab963bcfefa1
Autor:
Jason Pinkstaff, Emma McCullagh, Anita Grover, Andrew C. Melton, Anu Cherukuri, Jill CM Wait, Annalisa Nguyen, Mark T. Butt, Jami L. Trombley, Randall P. Reed, Eric.L. Adams, Robert B. Boyd, Sundeep Chandra, Joshua Henshaw, Charles A. O’Neill, Eric Zanelli, Joseph Kovalchin
Publikováno v:
Toxicology Reports, Vol 10, Iss , Pp 357-366 (2023)
Mucopolysaccharidosis Type IIIB (MPS IIIB) is an ultrarare, fatal pediatric disease with no approved therapy. It is caused by mutations in the gene encoding for lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). Tralesinidase alfa (TA) is a fusi
Externí odkaz:
https://doaj.org/article/cfbd12d153c245b5adea0f11f64be6c8
Akademický článek
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Autor:
Marie-Lise Gougeon, Béatrice Poirier-Beaudouin, Jérome Ausseil, Michel Zérah, Cécile Artaud, Jean-Michel Heard, Kumaran Deiva, Marc Tardieu
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Mucopolysaccharidosis type IIIB syndrome (Sanfilippo disease) is a rare autosomic recessif disorder caused by mutations in the α-N-acetylglucosaminidase (NAGLU) gene coding for a lysosomal enzyme, leading to neurodegeneration and progressive deterio
Externí odkaz:
https://doaj.org/article/a77948f9fa2f41ada8f3d223aac4708b
Autor:
Liliana Fernández-Hernández, Miriam Erandi Reyna-Fabián, Miguel Angel Alcántara-Ortigoza, Carmen Aláez-Verson, Luis L. Flores-Lagunes, Karol Carrillo-Sánchez, Ariadna González-del Angel
Publikováno v:
Diagnostics, Vol 12, Iss 5, p 1268 (2022)
We present an unusual Mexican patient affected with mucopolysaccharidosis type IIIB (MPS IIIB; also called Sanfilippo B syndrome, MIM #252920) bearing clinical features that have not previously been described for MPS IIIB (growth arrest, hypogonadotr
Externí odkaz:
https://doaj.org/article/011ebabe127c49e6a17c1ce9cfbc0fe9
Autor:
Mika Aoyagi-Scharber, Danielle Crippen-Harmon, Roger Lawrence, Jon Vincelette, Gouri Yogalingam, Heather Prill, Bryan K. Yip, Brian Baridon, Catherine Vitelli, Amanda Lee, Olivia Gorostiza, Evan G. Adintori, Wesley C. Minto, Jeremy L. Van Vleet, Bridget Yates, Sara Rigney, Terri M. Christianson, Pascale M.N. Tiger, Melanie J. Lo, John Holtzinger, Paul A. Fitzpatrick, Jonathan H. LeBowitz, Sherry Bullens, Brett E. Crawford, Stuart Bunting
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 6, Iss C, Pp 43-53 (2017)
Sanfilippo syndrome type B (mucopolysaccharidosis IIIB), caused by inherited deficiency of α-N-acetylglucosaminidase (NAGLU), required for lysosomal degradation of heparan sulfate (HS), is a pediatric neurodegenerative disorder with no approved trea
Externí odkaz:
https://doaj.org/article/391415b4d80b4db49263e27fbcc2640a
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 6, Iss C, Pp 48-54 (2016)
Sanfilippo syndrome type B (MPS IIIB) is a lysosomal storage disease caused by a deficiency of N-acetyl-glucosaminidase (NAGLU) activity. Since early therapeutic intervention is likely to yield the most efficacious results, we sought to determine the
Externí odkaz:
https://doaj.org/article/7d57b1e6317342269b168bb4d89d8064
Akademický článek
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Autor:
Qiang Yang, Xueyan Zhao, Yuyun Xing, Chao Jiang, Kai Jiang, Pan Xu, Weiwei Liu, Jun Ren, Lusheng Huang
Publikováno v:
Biology Open, Vol 7, Iss 10 (2018)
Mucopolysaccharidosis type IIIB (MPS IIIB) is a rare genetic disorder caused by loss-of-function mutations in the NAGLU gene. Pigs are an ideal large animal model for human diseases; however, a porcine model of MPS IIIB has not been reported. We have
Externí odkaz:
https://doaj.org/article/2c0a8ac1fee947bc92b6db55131798d1
Akademický článek
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