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Article

A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation.

Scientific reports - 15 May 2023

Mashima Ryuichi, Ohira Mari, Okuyama Torayuki, Onodera Masafumi, Takada Shuji

Abstract excerpt

Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder characterized by an accumulation of glycosaminoglycans (GAGs), including heparan sulfate, in the body. Major manifestations involve the central nerve system (CNS), skeletal deformation, and visceral manifestations. About 30% of MPS II is linked with an attenuated type of disease subtype with visceral involvement. In contrast, 70% of MPS II is...

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Identifiers

PMID: 37188686
DOI: 10.1038/s41598-023-34541-w
PMCID: PMC10185571

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