{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T14:07:28Z","timestamp":1791986848324,"version":"4.4.0"},"reference-count":195,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2020,1,27]],"date-time":"2020-01-27T00:00:00Z","timestamp":1580083200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["PJT-156345"],"award-info":[{"award-number":["PJT-156345"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"name":"JLK Foundation","award":["Gift"],"award-info":[{"award-number":["Gift"]}]},{"name":"Jonah's Just Begun","award":["Gift"],"award-info":[{"award-number":["Gift"]}]},{"name":"Sanfilippo Children's Research Foundation","award":["Gift"],"award-info":[{"award-number":["Gift"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>The mucopolysaccharidoses (MPS) are a group of diseases caused by the lysosomal accumulation of glycosaminoglycans, due to genetic deficiencies of enzymes involved in their degradation. MPS III or Sanfilippo disease, in particular, is characterized by early-onset severe, progressive neurodegeneration but mild somatic involvement, with patients losing milestones and previously acquired skills as the disease progresses. Despite being the focus of extensive research over the past years, the links between accumulation of the primary molecule, the glycosaminoglycan heparan sulfate, and the neurodegeneration seen in patients have yet to be fully elucidated. This review summarizes the current knowledge on the molecular bases of neurological decline in Sanfilippo disease. It emerges that this deterioration results from the dysregulation of multiple cellular pathways, leading to neuroinflammation, oxidative stress, impaired autophagy and defects in cellular signaling. However, many important questions about the neuropathological mechanisms of the disease remain unanswered, highlighting the need for further research in this area.<\/jats:p>","DOI":"10.3390\/jcm9020344","type":"journal-article","created":{"date-parts":[[2020,1,27]],"date-time":"2020-01-27T11:41:57Z","timestamp":1580125317000},"page":"344","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":69,"title":["Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease"],"prefix":"10.3390","volume":"9","author":[{"given":"Rachel","family":"Heon-Roberts","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, CHU Ste-Justine Research Centre, Montreal, QC H3T 1C5, Canada"},{"name":"Department of Anatomy and Cell Biology, McGill University, Montreal, QC H3A 0C7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie L. A.","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, CHU Ste-Justine Research Centre, Montreal, QC H3T 1C5, Canada"},{"name":"Department of Medicine, University of Montreal, Montreal, QC H3T 1J4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6612-1062","authenticated-orcid":false,"given":"Alexey V.","family":"Pshezhetsky","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, CHU Ste-Justine Research Centre, Montreal, QC H3T 1C5, Canada"},{"name":"Department of Anatomy and Cell Biology, McGill University, Montreal, QC H3A 0C7, Canada"},{"name":"Department of Paediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,1,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/j.tins.2011.05.006","article-title":"Clarifying lysosomal storage diseases","volume":"34","author":"Schultz","year":"2011","journal-title":"Trends Neurosci."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of Lysosomal Storage Disorders","volume":"281","author":"Meikle","year":"1999","journal-title":"JAMA"},{"key":"ref_3","unstructured":"Valle, D., Antonarakis, S., Ballabio, A., Beaudet, A., and Mitchell, G.A. 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