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Active site mutant transgene confers tolerance to human β-glucuronidase without affecting the phenotype of MPS VII mice

Mucopolysaccharidosis type VII (MPS VII; Sly syndrome) is an autosomal recessive lysosomal storage disorder due to an inherited deficiency of β-glucuronidase. A naturally occurring mouse model for this disease was discovered at The Jackson Laboratory and shown to be due to homozygosity for a 1-bp de...

Deskribapen osoa

Gorde:
Argitaratua izan da:Proc Natl Acad Sci U S A
Egile Nagusiak: Sly, William S., Vogler, Carole, Grubb, Jeffrey H., Zhou, Mi, Jiang, Jinxing, Zhou, Xiao Yan, Tomatsu, Shunji, Bi, Yanhua, Snella, Elizabeth M.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: National Academy of Sciences 2001
Gaiak:
Biological Sciences
Sarrera elektronikoa:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC30116/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11226217/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.051623698
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