{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T02:01:02Z","timestamp":1791165662298,"version":"4.1.0"},"reference-count":108,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2011,8,1]],"date-time":"2011-08-01T00:00:00Z","timestamp":1312156800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Trends in Neurosciences"],"published-print":{"date-parts":[[2011,8]]},"DOI":"10.1016\/j.tins.2011.05.006","type":"journal-article","created":{"date-parts":[[2011,7,5]],"date-time":"2011-07-05T02:30:12Z","timestamp":1309833012000},"page":"401-410","source":"Crossref","is-referenced-by-count":220,"title":["Clarifying lysosomal storage diseases"],"prefix":"10.1016","volume":"34","author":[{"given":"Mark L.","family":"Schultz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Tecedor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly L.","family":"Davidson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.tins.2011.05.006_bib0005","doi-asserted-by":"crossref","first-page":"20423","DOI":"10.1074\/jbc.R110.134452","article-title":"Common and uncommon pathogenic cascades in lysosomal storage diseases","volume":"285","author":"Vitner","year":"2010","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tins.2011.05.006_bib0010","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1007\/s10545-010-9075-9","article-title":"Pathophysiology of neuropathic lysosomal storage disorders","volume":"33","author":"Bellettato","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.tins.2011.05.006_bib0015","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1016\/j.bbamcr.2008.12.001","article-title":"Lysosomal disorders: from storage to cellular damage","volume":"1793","author":"Ballabio","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.tins.2011.05.006_bib0020","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.molmed.2009.01.001","article-title":"Calcium signaling and neurodegenerative diseases","volume":"15","author":"Bezprozvanny","year":"2009","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.tins.2011.05.006_bib0025","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1086\/318809","article-title":"A phase 1\/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies","volume":"68","author":"Eng","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.tins.2011.05.006_bib0030","doi-asserted-by":"crossref","first-page":"9321","DOI":"10.1523\/JNEUROSCI.2936-05.2005","article-title":"Functional correction of CNS phenotypes in a lysosomal storage disease model using adeno-associated virus type 4 vectors","volume":"25","author":"Liu","year":"2005","journal-title":"J. Neurosci."},{"key":"10.1016\/j.tins.2011.05.006_bib0035","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1126\/science.1174447","article-title":"A gene network regulating lysosomal biogenesis and function","volume":"325","author":"Sardiello","year":"2009","journal-title":"Science"},{"key":"10.1016\/j.tins.2011.05.006_bib0040","doi-asserted-by":"crossref","first-page":"1420","DOI":"10.1042\/BST0381420","article-title":"Lysosomal membrane proteins: life between acid and neutral conditions","volume":"38","author":"Saftig","year":"2010","journal-title":"Biochem. Soc. Trans."},{"key":"10.1016\/j.tins.2011.05.006_bib0045","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1038\/nrm2745","article-title":"Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function","volume":"10","author":"Saftig","year":"2009","journal-title":"Nat. Rev. Mol. Cell. Biol."},{"key":"10.1016\/j.tins.2011.05.006_bib0050","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/j.cell.2007.10.018","article-title":"LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase","volume":"131","author":"Reczek","year":"2007","journal-title":"Cell"},{"key":"10.1016\/j.tins.2011.05.006_bib0055","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1093\/hmg\/ddp523","article-title":"Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase","volume":"19","author":"Blanz","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2011.05.006_bib0060","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1016\/j.cell.2010.05.008","article-title":"Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations","volume":"141","author":"Lee","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.tins.2011.05.006_bib0065","series-title":"Fabry Disease: Perspectives from 5 Years of FOS","article-title":"Biomarkers in lysosomal storage diseases","author":"Cox","year":"2006"},{"key":"10.1016\/j.tins.2011.05.006_bib0070","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/BF00711619","article-title":"Increased urine concentration of subunit c of mitochondrial ATP synthase in neuronal ceroid lipofuscinoses patients","volume":"17","author":"Wisniewski","year":"1994","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.tins.2011.05.006_bib0075","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1016\/S1071-9091(96)80031-3","article-title":"The neuronal ceroid-lipofuscinoses","volume":"3","author":"Goebel","year":"1996","journal-title":"Semin. Pediatr. Neurol."},{"key":"10.1016\/j.tins.2011.05.006_bib0080","doi-asserted-by":"crossref","first-page":"2984","DOI":"10.2353\/ajpath.2010.100447","article-title":"Storage vesicles in neurons are related to Golgi complex alterations in mucopolysaccharidosis IIIB","volume":"177","author":"Vitry","year":"2010","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.tins.2011.05.006_bib0085","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1093\/hmg\/ddh067","article-title":"Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel","volume":"13","author":"Raychowdhury","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2011.05.006_bib0090","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1038\/8861","article-title":"Action of BTN1, the yeast orthologue of the gene mutated in Batten disease","volume":"22","author":"Pearce","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.tins.2011.05.006_bib0095","doi-asserted-by":"crossref","first-page":"e17619","DOI":"10.1371\/journal.pone.0017619","article-title":"Genome-wide analysis reveals the vacuolar pH\u2013stat of Saccharomyces cerevisiae","volume":"6","author":"Brett","year":"2011","journal-title":"PLoS ONE"},{"key":"10.1016\/j.tins.2011.05.006_bib0100","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1074\/jbc.M708058200","article-title":"V-ATPase V0 sector subunit a1 in neurons is a target of calmodulin","volume":"283","author":"Zhang","year":"2008","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tins.2011.05.006_bib0105","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1083\/jcb.201003062","article-title":"A dual function of V0-ATPase a1 provides an endolysosomal degradation mechanism in Drosophila melanogaster photoreceptors","volume":"189","author":"Williamson","year":"2010","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.tins.2011.05.006_bib0110","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.ceb.2008.03.015","article-title":"The V-type H1-ATPase in vesicular trafficking: targeting, regulation and function","volume":"20","author":"Marshansky","year":"2008","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.tins.2011.05.006_bib0115","doi-asserted-by":"crossref","first-page":"3661","DOI":"10.1242\/jcs.00687","article-title":"Controversies in synaptic vesicle exocytosis","volume":"116","author":"Weimer","year":"2003","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.tins.2011.05.006_bib0120","doi-asserted-by":"crossref","first-page":"666","DOI":"10.4161\/auto.7.6.15812","article-title":"V-ATPase engagement in autophagic processes","volume":"7","author":"Mijaljica","year":"2011","journal-title":"Autophagy"},{"key":"10.1016\/j.tins.2011.05.006_bib0125","doi-asserted-by":"crossref","first-page":"3542","DOI":"10.1242\/jcs.034298","article-title":"Inhibitors of the V0 subunit of the vacuolar H1-ATPase prevent segregation of lysosomal- and secretory-pathway proteins","volume":"122","author":"Sobota","year":"2009","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.tins.2011.05.006_bib0130","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1016\/j.neuron.2010.11.035","article-title":"Vesicular ATPase inserted into the plasma membrane of motor terminals by exocytosis alkalinizes cytosolic pH and facilitates endocytosis","volume":"68","author":"Zhang","year":"2010","journal-title":"Neuron"},{"key":"10.1016\/j.tins.2011.05.006_bib0135","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.cell.2005.03.012","article-title":"The v-ATPase V0 subunit a1 is required for a late step in synaptic vesicle exocytosis in Drosophila","volume":"121","author":"Hiesinger","year":"2005","journal-title":"Cell"},{"key":"10.1016\/j.tins.2011.05.006_bib0140","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1038\/sj.mp.4002077","article-title":"Amyloid precursor protein and amyloid beta-peptide bind to ATP synthase and regulate its activity at the surface of neural cells","volume":"13","author":"Schmidt","year":"2008","journal-title":"Mol. Psychiatry"},{"key":"10.1016\/j.tins.2011.05.006_bib0145","first-page":"81","article-title":"Neuronal cell surface ATP synthase mediates synthesis of extracellular ATP and regulation of intracellular pH","volume":"35","author":"Xing","year":"2011","journal-title":"Cell Biol. Int."},{"key":"10.1016\/j.tins.2011.05.006_bib0150","doi-asserted-by":"crossref","first-page":"10273","DOI":"10.1074\/jbc.M510625200","article-title":"Saccharomyces cerevisiae lacking Btn1p modulate vacuolar ATPase activity to regulate pH imbalance in the vacuole","volume":"281","author":"Padilla-Lopez","year":"2006","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tins.2011.05.006_bib0155","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1038\/ncb2204","article-title":"Lysosomal positioning coordinates cellular nutrient responses","volume":"13","author":"Korolchuk","year":"2011","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.tins.2011.05.006_bib0160","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.cell.2007.12.018","article-title":"Autophagy in the pathogenesis of disease","volume":"132","author":"Levine","year":"2008","journal-title":"Cell"},{"key":"10.1016\/j.tins.2011.05.006_bib0165","doi-asserted-by":"crossref","first-page":"1496","DOI":"10.1016\/j.bbamcr.2009.01.016","article-title":"The cellular pathways of neuronal autophagy and their implication in neurodegenerative diseases","volume":"1793","author":"Yue","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.tins.2011.05.006_bib0170","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1513\/pats.200909-102JS","article-title":"Chaperone-mediated autophagy","volume":"7","author":"Bejarano","year":"2010","journal-title":"Proc. Am. Thorac. Soc."},{"key":"10.1016\/j.tins.2011.05.006_bib0175","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1038\/nature04724","article-title":"Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice","volume":"441","author":"Hara","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.tins.2011.05.006_bib0180","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/nature04723","article-title":"Loss of autophagy in the central nervous system causes neurodegeneration in mice","volume":"441","author":"Komatsu","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.tins.2011.05.006_bib0185","doi-asserted-by":"crossref","first-page":"20483","DOI":"10.1074\/jbc.M602180200","article-title":"Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis","volume":"281","author":"Cao","year":"2006","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tins.2011.05.006_bib0190","doi-asserted-by":"crossref","first-page":"318","DOI":"10.4161\/auto.2984","article-title":"Autophagy and lysosomes in Pompe disease","volume":"2","author":"Fukuda","year":"2006","journal-title":"Autophagy"},{"key":"10.1016\/j.tins.2011.05.006_bib0195","doi-asserted-by":"crossref","first-page":"39041","DOI":"10.1074\/jbc.M607982200","article-title":"Mitochondrial aberrations in mucolipidosis Type IV","volume":"281","author":"Jennings","year":"2006","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tins.2011.05.006_bib0200","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1093\/hmg\/ddm100","article-title":"Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects","volume":"16","author":"Pacheco","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2011.05.006_bib0205","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":"Settembre","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2011.05.006_bib0210","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1016\/j.cell.2008.09.041","article-title":"Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells","volume":"135","author":"Venkatachalam","year":"2008","journal-title":"Cell"},{"key":"10.1016\/j.tins.2011.05.006_bib0215","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1016\/j.nbd.2010.06.010","article-title":"Macroautophagy is defective in mucolipin-1-deficient mouse neurons","volume":"40","author":"Curcio-Morelli","year":"2010","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.tins.2011.05.006_bib0220","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.ymthe.2006.08.009","article-title":"Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease","volume":"14","author":"Fukuda","year":"2006","journal-title":"Mol. Ther."},{"key":"10.1016\/j.tins.2011.05.006_bib0225","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.4161\/auto.6.8.13378","article-title":"Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder: murine Pompe disease","volume":"6","author":"Raben","year":"2010","journal-title":"Autophagy"},{"key":"10.1016\/j.tins.2011.05.006_bib0230","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1111\/j.1471-4159.2010.07158.x","article-title":"Lithium rescues the impaired autophagy process in CbCln3(Deltaex7\/8\/Deltaex7\/8) cerebellar cells and reduces neuronal vulnerability to cell death via IMPase inhibition","volume":"116","author":"Chang","year":"2011","journal-title":"J. Neurochem."},{"key":"10.1016\/j.tins.2011.05.006_bib0235","doi-asserted-by":"crossref","first-page":"e182","DOI":"10.1371\/journal.pmed.0040182","article-title":"Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model","volume":"4","author":"Watase","year":"2007","journal-title":"PLoS Med."},{"key":"10.1016\/j.tins.2011.05.006_bib0240","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1097\/FBP.0b013e32833da5da","article-title":"Intracellular pathways underlying the effects of lithium","volume":"21","author":"Pasquali","year":"2010","journal-title":"Behav. Pharmacol."},{"key":"10.1016\/j.tins.2011.05.006_bib0245","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.ymgme.2006.05.016","article-title":"Lysosomal exocytosis is impaired in mucolipidosis type IV","volume":"89","author":"LaPlante","year":"2006","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.tins.2011.05.006_bib0250","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1016\/j.neuroscience.2010.02.033","article-title":"Defects of synaptic vesicle turnover at excitatory and inhibitory synapses in Niemann-Pick C1-deficient neurons","volume":"167","author":"Xu","year":"2010","journal-title":"Neuroscience"},{"key":"10.1016\/j.tins.2011.05.006_bib0255","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.devcel.2008.05.005","article-title":"Neuraminidase 1 is a negative regulator of lysosomal exocytosis","volume":"15","author":"Yogalingam","year":"2008","journal-title":"Dev. Cell"},{"key":"10.1016\/j.tins.2011.05.006_bib0260","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1091\/mbc.E08-05-0456","article-title":"Roles of BLOC-1 and adaptor protein-3 complexes in cargo sorting to synaptic vesicles","volume":"20","author":"Newell-Litwa","year":"2009","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.tins.2011.05.006_bib0265","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1042\/BST0380529","article-title":"Presynaptic roles of intracellular Ca(21) stores in signalling and exocytosis","volume":"38","author":"Nizami","year":"2010","journal-title":"Biochem. Soc. Trans."},{"key":"10.1016\/j.tins.2011.05.006_bib0270","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/978-3-540-74805-2_5","article-title":"Core proteins of the secretory machinery","author":"Lang","year":"2008","journal-title":"Handb. Exp. Pharmacol."},{"key":"10.1016\/j.tins.2011.05.006_bib0275","doi-asserted-by":"crossref","first-page":"20471","DOI":"10.1074\/jbc.M400798200","article-title":"Identification of SNAREs involved in synaptotagmin VII-regulated lysosomal exocytosis","volume":"279","author":"Rao","year":"2004","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tins.2011.05.006_bib0280","doi-asserted-by":"crossref","first-page":"3607","DOI":"10.1038\/emboj.2010.237","article-title":"Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders","volume":"29","author":"Fraldi","year":"2010","journal-title":"EMBO J."},{"key":"10.1016\/j.tins.2011.05.006_bib0285","doi-asserted-by":"crossref","first-page":"4500","DOI":"10.1091\/mbc.E04-05-0432","article-title":"Elevated endosomal cholesterol levels in Niemann-Pick cells inhibit rab4 and perturb membrane recycling","volume":"15","author":"Choudhury","year":"2004","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.tins.2011.05.006_bib0290","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1111\/j.1471-4159.2010.06626.x","article-title":"TRP channels of intracellular membranes","volume":"113","author":"Dong","year":"2010","journal-title":"J. Neurochem."},{"key":"10.1016\/j.tins.2011.05.006_bib0295","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/S0014-5793(02)03670-0","article-title":"Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway","volume":"532","author":"LaPlante","year":"2002","journal-title":"FEBS Lett."},{"key":"10.1016\/j.tins.2011.05.006_bib0300","doi-asserted-by":"crossref","first-page":"32040","DOI":"10.1074\/jbc.M109.037184","article-title":"Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis","volume":"284","author":"Dong","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tins.2011.05.006_bib0305","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1038\/nm1210-1370","article-title":"Neurodegeneration and the neurovascular unit","volume":"16","author":"Zlokovic","year":"2010","journal-title":"Nat. Med."},{"key":"10.1016\/j.tins.2011.05.006_bib0310","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1038\/nm.2025","article-title":"Molecular signatures of disease brain endothelia provide new sites for CNS-directed enzyme therapy","volume":"15","author":"Chen","year":"2009","journal-title":"Nat. Med."},{"key":"10.1016\/j.tins.2011.05.006_bib0315","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1016\/j.ymthe.2006.01.006","article-title":"Gene therapy for lysosomal storage diseases","volume":"13","author":"Sands","year":"2006","journal-title":"Mol. Ther."},{"issue":"Suppl.","key":"10.1016\/j.tins.2011.05.006_bib0320","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1111\/j.1651-2227.2008.00660.x","article-title":"CNS-directed gene therapy for lysosomal storage diseases","volume":"97","author":"Sands","year":"2008","journal-title":"Acta Paediatr."},{"key":"10.1016\/j.tins.2011.05.006_bib0325","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1016\/j.bbadis.2010.05.006","article-title":"Niemann-Pick type C cells show cholesterol dependent decrease of APP expression at the cell surface and its increased processing through the beta-secretase pathway","volume":"1802","author":"Malnar","year":"2010","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.tins.2011.05.006_bib0330","doi-asserted-by":"crossref","first-page":"1837","DOI":"10.1523\/JNEUROSCI.2954-10.2011","article-title":"Sphingolipid storage affects autophagic metabolism of the amyloid precursor protein and promotes Abeta generation","volume":"31","author":"Tamboli","year":"2011","journal-title":"J. Neurosci."},{"key":"10.1016\/j.tins.2011.05.006_bib0335","doi-asserted-by":"crossref","first-page":"9424","DOI":"10.1073\/pnas.0914725107","article-title":"Deletion of PIK3C3\/Vps34 in sensory neurons causes rapid neurodegeneration by disrupting the endosomal but not the autophagic pathway","volume":"107","author":"Zhou","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.tins.2011.05.006_bib0340","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.cell.2008.10.029","article-title":"Application of a translational profiling approach for the comparative analysis of CNS cell types","volume":"135","author":"Doyle","year":"2008","journal-title":"Cell"},{"key":"10.1016\/j.tins.2011.05.006_bib0345","doi-asserted-by":"crossref","first-page":"2697","DOI":"10.2165\/00003495-200767180-00005","article-title":"Treatment of lysosomal storage disorders: progress with enzyme replacement therapy","volume":"67","author":"Rohrbach","year":"2007","journal-title":"Drugs"},{"key":"10.1016\/j.tins.2011.05.006_bib0350","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1002\/emmm.200900036","article-title":"Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics","volume":"1","author":"Parenti","year":"2009","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.tins.2011.05.006_bib0355","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1038\/nrg2988","article-title":"Therapeutic in vivo gene transfer for genetic disease using AAV: progress and challenges","volume":"12","author":"Mingozzi","year":"2011","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.tins.2011.05.006_bib0360","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1038\/nrg2985","article-title":"Ex vivo gene transfer and correction for cell-based therapies","volume":"12","author":"Naldini","year":"2011","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.tins.2011.05.006_bib0365","doi-asserted-by":"crossref","first-page":"5431","DOI":"10.1073\/pnas.92.12.5431","article-title":"Translational termination efficiency in mammals is influenced by the base following the stop codon","volume":"92","author":"McCaughan","year":"1995","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.tins.2011.05.006_bib0370","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1093\/hmg\/10.3.291","article-title":"Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation","volume":"10","author":"Keeling","year":"2001","journal-title":"Hum. Mol. Genet."},{"issue":"Suppl. A","key":"10.1016\/j.tins.2011.05.006_bib0375","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1053\/ejpn.2000.0436","article-title":"Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis","volume":"5","author":"Sleat","year":"2001","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"10.1016\/j.tins.2011.05.006_bib0380","doi-asserted-by":"crossref","first-page":"3735","DOI":"10.1016\/j.bmc.2010.03.060","article-title":"Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations","volume":"18","author":"Nudelman","year":"2010","journal-title":"Bioorg. Med. Chem."},{"key":"10.1016\/j.tins.2011.05.006_bib0385","doi-asserted-by":"crossref","first-page":"13807","DOI":"10.1073\/pnas.0606218103","article-title":"Pregnane X receptor (PXR) activation: a mechanism for neuroprotection in a mouse model of Niemann-Pick C disease","volume":"103","author":"Langmade","year":"2006","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.tins.2011.05.006_bib0390","doi-asserted-by":"crossref","first-page":"e6951","DOI":"10.1371\/journal.pone.0006951","article-title":"Chronic cyclodextrin treatment of murine Niemann\u2013Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression","volume":"4","author":"Davidson","year":"2009","journal-title":"PLoS ONE"},{"key":"10.1016\/j.tins.2011.05.006_bib0395","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1073\/pnas.0810895106","article-title":"Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-\/- mouse","volume":"106","author":"Liu","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.tins.2011.05.006_bib0400","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1016\/j.cell.2010.02.016","article-title":"Mechanisms underlying inflammation in neurodegeneration","volume":"140","author":"Glass","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.tins.2011.05.006_bib0405","doi-asserted-by":"crossref","first-page":"4506","DOI":"10.1073\/pnas.0700382104","article-title":"Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency","volume":"104","author":"Settembre","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.tins.2011.05.006_bib0410","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.nbd.2005.01.025","article-title":"Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6)","volume":"20","author":"Oswald","year":"2005","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.tins.2011.05.006_bib0415","doi-asserted-by":"crossref","first-page":"8425","DOI":"10.1073\/pnas.0400625101","article-title":"Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice","volume":"101","author":"Wu","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.tins.2011.05.006_bib0420","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1016\/j.chembiol.2005.09.007","article-title":"Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles","volume":"12","author":"Sawkar","year":"2005","journal-title":"Chem. Biol."},{"key":"10.1016\/j.tins.2011.05.006_bib0425","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1038\/4801","article-title":"Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor","volume":"5","author":"Fan","year":"1999","journal-title":"Nat. Med."},{"key":"10.1016\/j.tins.2011.05.006_bib0430","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1007\/s00018-008-7470-2","article-title":"Chemical chaperone therapy for GM1-gangliosidosis","volume":"65","author":"Suzuki","year":"2008","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.tins.2011.05.006_bib0435","doi-asserted-by":"crossref","first-page":"4816","DOI":"10.1021\/bi9002265","article-title":"Effects of pH and iminosugar pharmacological chaperones on lysosomal glycosidase structure and stability","volume":"48","author":"Lieberman","year":"2009","journal-title":"Biochemistry"},{"key":"10.1016\/j.tins.2011.05.006_bib0440","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1038\/nature02998","article-title":"Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death","volume":"431","author":"Arrasate","year":"2004","journal-title":"Nature"},{"key":"10.1016\/j.tins.2011.05.006_bib0445","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.bbamcr.2008.10.016","article-title":"Sorting of lysosomal proteins","volume":"1793","author":"Braulke","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.tins.2011.05.006_bib0450","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1038\/nrm2217","article-title":"Lysosomes: fusion and function","volume":"8","author":"Luzio","year":"2007","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.tins.2011.05.006_bib0455","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/1423-0127-17-26","article-title":"Characterization of Fabry mice treated with recombinant adeno-associated virus 2\/8-mediated gene transfer","volume":"17","author":"Choi","year":"2010","journal-title":"J. Biomed. Sci."},{"key":"10.1016\/j.tins.2011.05.006_bib0460","doi-asserted-by":"crossref","first-page":"e15033","DOI":"10.1371\/journal.pone.0015033","article-title":"Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease","volume":"5","author":"Marshall","year":"2010","journal-title":"PLoS ONE"},{"key":"10.1016\/j.tins.2011.05.006_bib0465","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1634\/stemcells.2008-0844","article-title":"Successful low-risk hematopoietic cell therapy in a mouse model of type 1 Gaucher disease","volume":"27","author":"Enquist","year":"2009","journal-title":"Stem Cells"},{"key":"10.1016\/j.tins.2011.05.006_bib0470","doi-asserted-by":"crossref","first-page":"e13468","DOI":"10.1371\/journal.pone.0013468","article-title":"AAV-mediated gene delivery in adult GM1-gangliosidosis mice corrects lysosomal storage in CNS and improves survival","volume":"5","author":"Baek","year":"2010","journal-title":"PLoS ONE"},{"key":"10.1016\/j.tins.2011.05.006_bib0475","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.ymgme.2008.02.005","article-title":"Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis","volume":"94","author":"Elliot-Smith","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.tins.2011.05.006_bib0480","doi-asserted-by":"crossref","first-page":"10373","DOI":"10.1073\/pnas.0603765103","article-title":"Effective gene therapy in an authentic model of Tay-Sachs-related diseases","volume":"103","author":"Cachon-Gonzalez","year":"2006","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.tins.2011.05.006_bib0485","doi-asserted-by":"crossref","first-page":"9150","DOI":"10.1074\/jbc.M609304200","article-title":"Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis","volume":"282","author":"Maegawa","year":"2007","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tins.2011.05.006_bib0490","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.ymgme.2005.03.007","article-title":"Short-term, high dose enzyme replacement therapy in sialidosis mice","volume":"85","author":"Wang","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.tins.2011.05.006_bib0495","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1038\/mt.2010.265","article-title":"Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes","volume":"19","author":"Ellinwood","year":"2011","journal-title":"Mol. Ther."},{"key":"10.1016\/j.tins.2011.05.006_bib0500","doi-asserted-by":"crossref","first-page":"2693","DOI":"10.1093\/hmg\/ddm223","article-title":"Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes","volume":"16","author":"Fraldi","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.tins.2011.05.006_bib0505","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/j.ymgme.2009.07.013","article-title":"Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs: a proof of principle study","volume":"98","author":"Hemsley","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.tins.2011.05.006_bib0510","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1038\/mt.2010.17","article-title":"Therapeutic efficacy of bone marrow transplant, intracranial AAV-mediated gene therapy, or both in the mouse model of MPS IIIB","volume":"18","author":"Heldermon","year":"2010","journal-title":"Mol. Ther."},{"key":"10.1016\/j.tins.2011.05.006_bib0515","doi-asserted-by":"crossref","first-page":"6560","DOI":"10.1073\/pnas.0711491105","article-title":"Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB","volume":"105","author":"Ficko-Blean","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.tins.2011.05.006_bib0520","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1016\/j.ymgme.2010.08.013","article-title":"Comparison of ventricular and intravenous lentiviral-mediated gene therapy for murine MPS VII","volume":"101","author":"Bielicki","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.tins.2011.05.006_bib0525","doi-asserted-by":"crossref","first-page":"1484","DOI":"10.1089\/hum.2005.16.1484","article-title":"Safety of direct administration of AAV2(CU)hCLN2, a candidate treatment for the central nervous system manifestations of late infantile neuronal ceroid lipofuscinosis, to the brain of rats and nonhuman primates","volume":"16","author":"Hackett","year":"2005","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.tins.2011.05.006_bib0530","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1038\/mt.2008.9","article-title":"Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis","volume":"16","author":"Chang","year":"2008","journal-title":"Mol. Ther."},{"key":"10.1016\/j.tins.2011.05.006_bib0535","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.jneuroim.2010.08.024","article-title":"Immunosuppression alters disease severity in juvenile Batten disease mice","volume":"230","author":"Seehafer","year":"2011","journal-title":"J. Neuroimmunol."},{"key":"10.1016\/j.tins.2011.05.006_bib0540","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1042\/bj0600604","article-title":"Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue","volume":"60","author":"De Duve","year":"1955","journal-title":"Biochem. J."}],"container-title":["Trends in Neurosciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0166223611000889?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0166223611000889?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,6,12]],"date-time":"2019-06-12T14:59:51Z","timestamp":1560351591000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0166223611000889"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,8]]},"references-count":108,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2011,8]]}},"alternative-id":["S0166223611000889"],"URL":"https:\/\/doi.org\/10.1016\/j.tins.2011.05.006","relation":{},"ISSN":["0166-2236"],"issn-type":[{"value":"0166-2236","type":"print"}],"subject":[],"published":{"date-parts":[[2011,8]]}}}