Article

Cognitive impairment and progressive neuroinflammation in mucopolysaccharidosis IIIA mice expressing the R245H Sgsh variant

2025-12-05

Abstract excerpt

Mucopolysaccharidosis (MPS) type IIIA (Sanfilippo syndrome) is an inherited childhood-onset dementia caused by insufficient SGSH enzymatic activity and subsequent accumulation of partially degraded heparan sulfate glycosaminoglycans. One of the most prevalent mutations is the Arg245His variant, representing up to 58% of mutations in some populations. Whilst other mouse models exist, none exhibit the mutations seen...

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Literature Corpus work: a1a7c5fc-5131-5602-a7fe-44efde14b602
DOI: 10.64898/2025.12.02.691757

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