Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive
ORGANISM(S): Mus Musculus (mouse)
TISSUE(S): Brain
DISEASE(S): Mucopolysaccharidosis Type Iiib
SUBMITTER: Michele Costanzo
LAB HEAD: Michele Costanzo
PROVIDER: PXD017363 | Pride | 2020-02-26
REPOSITORIES: Pride
De Pasquale Valeria V Costanzo Michele M Siciliano Rosa Anna RA Mazzeo Maria Fiorella MF Pistorio Valeria V Bianchi Laura L Marchese Emanuela E Ruoppolo Margherita M Pavone Luigi Michele LM Caterino Marianna M
Biomolecules 20200226 3
Mucopolysaccharidosis IIIB (MPS IIIB) is an inherited metabolic disease due to deficiency of α-N-Acetylglucosaminidase (NAGLU) enzyme with subsequent storage of undegraded heparan sulfate (HS). The main clinical manifestations of the disease are profound intellectual disability and neurodegeneration. A label-free quantitative proteomic approach was applied to compare the proteome profile of brains from MPS IIIB and control mice to identify altered neuropathological pathways of MPS IIIB. Proteins ...[more]