An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA

Mucopolysaccharidosis IIIA (MPS IIIA, Sanfilippo syndrome type A), a paediatric neurological lysosomal storage disease, is caused by impaired function of the enzyme N-sulfoglucosamine sulfohydrolase (SGSH) resulting in impaired catabolism of heparan sulfate glycosaminoglycan (HS GAG) and its accumul...

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Détails bibliographiques
Publié dans:Int J Mol Sci
Auteurs principaux: Douek, Alon M., Amiri Khabooshan, Mitra, Henry, Jason, Stamatis, Sebastian-Alexander, Kreuder, Florian, Ramm, Georg, Änkö, Minna-Liisa, Wlodkowic, Donald, Kaslin, Jan
Format: Artigo
Langue:Inglês
Publié: MDPI 2021
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8197930/
https://ncbi.nlm.nih.gov/pubmed/34073041
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22115948
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