{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:53:07Z","timestamp":1790679187123,"version":"4.1.0"},"reference-count":50,"publisher":"Public Library of Science (PLoS)","issue":"11","license":[{"start":{"date-parts":[[2013,11,21]],"date-time":"2013-11-21T00:00:00Z","timestamp":1384992000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0080142","type":"journal-article","created":{"date-parts":[[2013,11,21]],"date-time":"2013-11-21T22:33:44Z","timestamp":1385073224000},"page":"e80142","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":17,"title":["Amyloidosis, Synucleinopathy, and Prion Encephalopathy in a Neuropathic Lysosomal Storage Disease: The CNS-Biomarker Potential of Peripheral Blood"],"prefix":"10.1371","volume":"8","author":[{"given":"Bartholomew J.","family":"Naughton","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. Jason","family":"Duncan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darren","family":"Murrey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tierra","family":"Ware","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron","family":"Meadows","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas M.","family":"McCarty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiyan","family":"Fu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2013,11,21]]},"reference":[{"key":"ref1","unstructured":"Neufeld EF, Muenzer J (2001) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic &amp; molecular basis of inherited disease. 8th ed. New York; St Louis; San Francisco: McGraw-Hill. 3421\u20133452."},{"key":"ref2","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1002\/humu.1189","article-title":"Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications","volume":"18","author":"G Yogalingam","year":"2001","journal-title":"Hum Mutat"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"14505","DOI":"10.1073\/pnas.96.25.14505","article-title":"Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase","volume":"96","author":"HH Li","year":"1999","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/cne.20355","article-title":"Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders","volume":"480","author":"R McGlynn","year":"2004","journal-title":"J Comp Neurol"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"e35787","DOI":"10.1371\/journal.pone.0035787","article-title":"Neuropathology in mouse models of mucopolysaccharidosis type I, IIIA and IIIB","volume":"7","author":"FL Wilkinson","year":"2012","journal-title":"PLoS One"},{"key":"ref6","first-page":"30","article-title":"Attenuated plasticity in neurons and astrocytes in the mouse model of Sanfilippo syndrome type B. J Neurosci Res","volume":"69","author":"HH Li","year":"2002"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"1902","DOI":"10.1073\/pnas.252784899","article-title":"Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB","volume":"100","author":"K Ohmi","year":"2003","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref8","first-page":"599","article-title":"Neuropathological study and chemico-pathological correlation in sibling cases of Sanfilippo syndrome type B. Brain Dev","volume":"7","author":"K Tamagawa","year":"1985"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1002\/jnr.21134","article-title":"Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB","volume":"85","author":"GR Villani","year":"2007","journal-title":"J Neurosci Res"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1002\/jnr.21912","article-title":"Innate and adaptive immune activation in the brain of MPS IIIB mouse model","volume":"87","author":"J DiRosario","year":"2009","journal-title":"J Neurosci Res"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.brainres.2009.03.071","article-title":"Mucopolysaccharidosis IIIB: oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis","volume":"1279","author":"GR Villani","year":"2009","journal-title":"Brain Res"},{"key":"ref12","first-page":"393","article-title":"Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B. Mol Genet Metab","volume":"90","author":"S Ryazantsev","year":"2007"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1093\/hmg\/ddm289","article-title":"A block of autophagy in lysosomal storage disorders","volume":"17","author":"C Settembre","year":"2008","journal-title":"Hum Mol Genet"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1097\/00005072-199908000-00004","article-title":"Accumulation of intracellular amyloid-beta peptide (A beta 1\u201340) in mucopolysaccharidosis brains","volume":"58","author":"SD Ginsberg","year":"1999","journal-title":"J Neuropathol Exp Neurol"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1002\/mds.24029","article-title":"Genetic and pathological links between Parkinson\u2019s disease and the lysosomal disorder Sanfilippo syndrome","volume":"27","author":"SE Winder-Rhodes","year":"2012","journal-title":"Mov Disord"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"8332","DOI":"10.1073\/pnas.0903223106","article-title":"Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy","volume":"106","author":"K Ohmi","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref17","first-page":"e27461","article-title":"Defects in the medial entorhinal cortex and dentate gyrus in the mouse model of Sanfilippo syndrome type B. PLoS One","volume":"6","author":"K Ohmi","year":"2011"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1007\/s00401-007-0325-3","article-title":"Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: analysis of human brain tissue","volume":"115","author":"K Hamano","year":"2008","journal-title":"Acta Neuropathol"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/0887-8994(96)00083-5","article-title":"Sanfilippo syndrome type C: a clinicopathological autopsy study of a long-term survivor","volume":"14","author":"M Kurihara","year":"1996","journal-title":"Pediatr Neurol"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.1016\/j.cell.2012.02.040","article-title":"Alzheimer mechanisms and therapeutic strategies","volume":"148","author":"Y Huang","year":"2012","journal-title":"Cell"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1159\/000283480","article-title":"Neuroinflammation - an early event in both the history and pathogenesis of Alzheimer\u2019s disease","volume":"7","author":"P Eikelenboom","year":"2010","journal-title":"Neurodegener Dis"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1055\/s-0031-1299782","article-title":"Genetics of Parkinson\u2019s disease","volume":"31","author":"KR Kumar","year":"2011","journal-title":"Semin Neurol"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"200","DOI":"10.2174\/138161212799040574","article-title":"Current opinions and perspectives on the role of immune system in the pathogenesis of Parkinson\u2019s disease","volume":"18","author":"MA Panaro","year":"2012","journal-title":"Curr Pharm Des"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"e45992","DOI":"10.1371\/journal.pone.0045992","article-title":"Peripheral Nervous System Neuropathology and Progressive Sensory Impairments in a Mouse Model of Mucopolysaccharidosis IIIB","volume":"7","author":"H Fu","year":"2012","journal-title":"PLoS One"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"v49","DOI":"10.1093\/rheumatology\/ker396","article-title":"Therapy for the mucopolysaccharidoses","volume":"50","author":"V Valayannopoulos","year":"2011","journal-title":"Rheumatology (Oxford)"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1089\/hum.2012.140","article-title":"Gene therapy approaches for lysosomal storage disease: next-generation treatment","volume":"23","author":"BJ Byrne","year":"2012","journal-title":"Hum Gene Ther"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1007\/978-1-61779-370-7_18","article-title":"rAAV human trial experience","volume":"807","author":"KA High","year":"2011","journal-title":"Methods Mol Biol"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1038\/mt.2011.34","article-title":"Correction of neurological disease of mucopolysaccharidosis IIIB in adult mice by rAAV9 trans-blood-brain barrier gene delivery","volume":"19","author":"H Fu","year":"2011","journal-title":"Mol Ther"},{"key":"ref29","doi-asserted-by":"crossref","unstructured":"Ruzo A, Marco S, Garcia M, Villacampa P, Ribera A, <etal>et al<\/etal>.. (2012) Correction of Pathological Accumulation of Glycosaminoglycans in Central Nervous System and Peripheral Tissues of MPSIIIA Mice Through Systemic AAV9 Gene Transfer. Hum Gene Ther.","DOI":"10.1089\/hum.2012.029"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1038\/mt.2009.71","article-title":"Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons","volume":"17","author":"S Duque","year":"2009","journal-title":"Mol Ther"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/nbt.1515","article-title":"Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes","volume":"27","author":"KD Foust","year":"2009","journal-title":"Nat Biotechnol"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/nbt.1610","article-title":"Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN","volume":"28","author":"KD Foust","year":"2010","journal-title":"Nat Biotechnol"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/j.ymgme.2008.05.001","article-title":"Heparin cofactor II-thrombin complex: a biomarker of MPS disease","volume":"94","author":"DR Randall","year":"2008","journal-title":"Mol Genet Metab"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.ymgme.2008.12.002","article-title":"Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry","volume":"96","author":"CE Beesley","year":"2009","journal-title":"Mol Genet Metab"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/nchembio.766","article-title":"Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses","volume":"8","author":"R Lawrence","year":"2012","journal-title":"Nat Chem Biol"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1006\/mthe.2001.0514","article-title":"Neurological correction of lysosomal storage in a mucopolysaccharidosis IIIB mouse model by adeno-associated virus-mediated gene delivery","volume":"5","author":"H Fu","year":"2002","journal-title":"Mol Ther"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1038\/sj.gt.3300938","article-title":"Recombinant adeno-associated virus purification using novel methods improves infectious titer and yield","volume":"6","author":"S Zolotukhin","year":"1999","journal-title":"Gene Ther"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"7323","DOI":"10.1523\/JNEUROSCI.21-18-07323.2001","article-title":"The conjoint importance of the hippocampus and anterior thalamic nuclei for allocentric spatial learning: evidence from a disconnection study in the rat","volume":"21","author":"EC Warburton","year":"2001","journal-title":"J Neurosci"},{"key":"ref39","unstructured":"Thompson JN, Nowakowski RW (1991) Enzymatic diagnosis of selected mucopolysaccharidoses: Hunter, Morquio type A, and Sanfilippo types A, B, C, and D, and procedures for measurement of 35SO4-glycosaminoglycans. In: Hommes FA, editor. Techniques in diagnostic human biochemical genetics - a laboratory manual. New York: Wiley-Liss. 567\u2013586."},{"key":"ref40","first-page":"356","article-title":"Quantification and characterization of glycosaminoglycans at the nanogram level by a combined azure A-silver staining in agarose gels","volume":"356\u201361","author":"CH van de Lest","year":"1994","journal-title":"- Anal Biochem 221"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1038\/sj.gt.3302961","article-title":"Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice","volume":"14","author":"H Fu","year":"2007","journal-title":"Gene Ther"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1093\/clinchem\/35.7.1472","article-title":"Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses","volume":"1472\u20137","author":"JG de Jong","year":"1989","journal-title":"- Clin Chem 35"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/WNR.0b013e32834d2216","article-title":"Specific knockdown of the D2 long dopamine receptor variant","volume":"23","author":"BJ Naughton","year":"2012","journal-title":"Neuroreport"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1186\/1755-8794-4-74","article-title":"Microarray analysis of peripheral blood lymphocytes from ALS patients and the SAFE detection of the KEGG ALS pathway","volume":"4","author":"JL Mougeot","year":"2011","journal-title":"BMC Med Genomics"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1073\/pnas.0610204104","article-title":"Molecular markers of early Parkinson\u2019s disease based on gene expression in blood","volume":"104","author":"CR Scherzer","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1016\/j.pneurobio.2011.09.002","article-title":"Biomarkers of Parkinson\u2019s disease and Dementia with Lewy bodies","volume":"95","author":"C Henchcliffe","year":"2011","journal-title":"Prog Neurobiol"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"172","DOI":"10.4161\/pri.5.3.16894","article-title":"Insoluble cellular prion protein and its association with prion and Alzheimer diseases","volume":"5","author":"WQ Zou","year":"2011","journal-title":"Prion"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1038\/459924a","article-title":"Cell biology: Beyond the prion principle","volume":"459","author":"A Aguzzi","year":"2009","journal-title":"Nature"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2007.06.019","article-title":"Prion proteins: physiological functions and role in neurological disorders","volume":"264","author":"W Hu","year":"2008","journal-title":"J Neurol Sci"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"2057","DOI":"10.1038\/emboj.2011.86","article-title":"The cellular prion protein mediates neurotoxic signalling of beta-sheet-rich conformers independent of prion replication","volume":"30","author":"UK Resenberger","year":"2011","journal-title":"EMBO J"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0080142","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,8,10]],"date-time":"2020-08-10T11:18:50Z","timestamp":1597058330000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0080142"}},"subtitle":[],"editor":[{"given":"Knut","family":"Stieger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2013,11,21]]},"references-count":50,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2013,11,21]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0080142","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,11,21]]}}}