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Article

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

International journal of molecular sciences - 31 May 2021

Douek Alon M, Amiri Khabooshan Mitra, Henry Jason, Stamatis Sebastian-Alexander, Kreuder Florian, Ramm Georg, Änkö Minna-Liisa, Wlodkowic Donald, Kaslin Jan

Abstract excerpt

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 accumulation in tissues. MPS IIIA represents a significant proportion of childhood dementias. This condition generally...

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PMID: 34073041
DOI: 10.3390/ijms22115948
PMCID: PMC8197930

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