Ontology highlight
ABSTRACT:
SUBMITTER: Parker H
PROVIDER: S-EPMC7059006 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Parker Helen H Ellison Stuart M SM Holley Rebecca J RJ O'Leary Claire C Liao Aiyin A Asadi Jalal J Glover Emily E Ghosh Arunabha A Jones Simon S Wilkinson Fiona L FL Brough David D Pinteaux Emmanuel E Boutin Hervé H Bigger Brian W BW
EMBO molecular medicine 20200214 3
Mucopolysaccharidosis IIIA is a neuronopathic lysosomal storage disease, characterised by heparan sulphate and other substrates accumulating in the brain. Patients develop behavioural disturbances and cognitive decline, a possible consequence of neuroinflammation and abnormal substrate accumulation. Interleukin (IL)-1β and interleukin-1 receptor antagonist (IL-1Ra) expression were significantly increased in both murine models and human MPSIII patients. We identified pathogenic mechanisms of infl ...[more]