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Open AccessArticle

Proteomic Analysis of Mucopolysaccharidosis IIIB Mouse Brain

Department of Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, 80131 Naples, Italy
CEINGE-Biotecnologie Avanzate scarl, 80145 Naples, Italy
Institute of Food Sciences, CNR, 83100 Avellino, Italy
Laboratory of Functional Proteomics, Department of Life Sciences, University of Siena, 53100 Siena, Italy
Department of Mental Health and Preventive Medicine, University of Campania Luigi Vanvitelli, 80138 Naples, Italy
Author to whom correspondence should be addressed.
These authors equally contributed to this work.
Biomolecules 2020, 10(3), 355;
Received: 24 November 2019 / Revised: 17 February 2020 / Accepted: 24 February 2020 / Published: 26 February 2020
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 were identified through a bottom up analysis and 130 were significantly under-represented and 74 over-represented in MPS IIIB mouse brains compared to wild type (WT). Multiple bioinformatic analyses allowed to identify three major clusters of the differentially abundant proteins: proteins involved in cytoskeletal regulation, synaptic vesicle trafficking, and energy metabolism. The proteome profile of NAGLU−/− mouse brain could pave the way for further studies aimed at identifying novel therapeutic targets for the MPS IIIB. Data are available via ProteomeXchange with the identifier PXD017363. View Full-Text
Keywords: mucopolysaccharidosis IIIB; quantitative proteomics; NAGLU; lysosomes mucopolysaccharidosis IIIB; quantitative proteomics; NAGLU; lysosomes
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De Pasquale, V.; Costanzo, M.; Siciliano, R.A.; Mazzeo, M.F.; Pistorio, V.; Bianchi, L.; Marchese, E.; Ruoppolo, M.; Pavone, L.M.; Caterino, M. Proteomic Analysis of Mucopolysaccharidosis IIIB Mouse Brain. Biomolecules 2020, 10, 355.

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