Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Ainslie L.K. Roberts"'
Publikováno v:
Molecular Genetics and Metabolism. 101:208-213
MPS IIIA is a lysosomal storage disorder caused by mutations in the sulphamidase gene, resulting in the accumulation of heparan sulphate glycosaminoglycans (HS GAGs). Symptoms predominantly manifest in the CNS and there is no current therapy that eff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccf1b658d9612f17d1942ce14c00c927
https://doi.org/10.1016/j.ymgme.2010.06.008
https://doi.org/10.1016/j.ymgme.2010.06.008
Autor:
Ashley S Wilkinson, Janice M. Fletcher, Belinda J. Thomas, Ainslie L.K. Roberts, Sharon Byers
Publikováno v:
Pediatric Research. 60:309-314
Reduction of an enzyme activity required for the lysosomal degradation of glycosaminoglycan (gag) chains will result in a mucopolysaccharidosis (MPS) disorder. Substrate deprivation therapy (SDT), a potential therapy option for MPS with residual enzy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::295d257e58f3c8d636abcc9bd195c7fb
https://doi.org/10.1203/01.pdr.0000233037.00707.da
https://doi.org/10.1203/01.pdr.0000233037.00707.da
Autor:
Kerry A. Lymn, Ainslie L.K. Roberts, Cuong D. Tran, Gordon S. Howarth, Ross N. Butler, Roger Yazbeck, Wan Chin Liaw, Janice M. Fletcher, Sharon Byers, Simon Moretta, Stamatiki Kritas
Mucopolysaccharidosis type IIIA (MPS IIIA) is a lysosomal storage disorder caused by a deficiency in sulphamidase (NS), a lysosomal enzyme required for the degradation of heparan sulphate glycosaminoglycans (gags). The MPS IIIA mouse is a naturally o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15f42cfd13de329683dd44ba48f2e9ed
https://hdl.handle.net/1959.8/132763
https://hdl.handle.net/1959.8/132763
Publikováno v:
Molecular genetics and metabolism. 92(1-2)
Mucopolysaccharidosis type IIIA (MPS IIIA) is a specific lysosomal storage disorder caused by an enzyme deficiency in sulphamidase, which is required for the degradation of heparan sulphate glycosaminoglycan (gag). This deficiency results in widespre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::402525e2b1dfcb5db7849ec2da0efccc
https://pubmed.ncbi.nlm.nih.gov/17681480
https://pubmed.ncbi.nlm.nih.gov/17681480
Publikováno v:
Molecular Genetics and Metabolism. 114:S58
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6636c58de1df3f60f312e9081ffe4ce4
https://doi.org/10.1016/j.ymgme.2014.12.121
https://doi.org/10.1016/j.ymgme.2014.12.121
Autor:
Donald S. Anson, Belinda J. Thomas, Kylie R. Dunning, Rachel Koldej, Sharon Byers, Peter R. Clements, Ainslie L.K. Roberts, Chantelle McIntyre, Enzo Ranieri
Publikováno v:
Genetic Vaccines and Therapy. 5:1
Mucopolysaccharidosis type IIIA (MPS IIIA) is the most common of the mucopolysaccharidoses. The disease is caused by a deficiency of the lysosomal enzyme sulphamidase and results in the storage of the glycosaminoglycan (GAG), heparan sulphate. MPS II
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1473c33dde9ffe25f99308577a4365bf
https://doi.org/10.1186/1479-0556-5-1
https://doi.org/10.1186/1479-0556-5-1