{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T14:28:58Z","timestamp":1778941738383,"version":"3.51.4"},"reference-count":89,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2017,1]]},"DOI":"10.1016\/j.ymgme.2016.11.388","type":"journal-article","created":{"date-parts":[[2016,11,29]],"date-time":"2016-11-29T07:46:03Z","timestamp":1480405563000},"page":"38-46","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Ten plus one challenges in diseases of the lysosomal system"],"prefix":"10.1016","volume":"120","author":[{"given":"Gregory A.","family":"Grabowski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chester","family":"Whitley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2016.11.388_bb0005","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1016\/S0021-9258(19)77341-4","article-title":"The enzymatic synthesis of sphingosine. II. Further studies on the mechanism of the reaction","volume":"233","author":"Brady","year":"1958","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0010","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/S0021-9258(19)68020-8","article-title":"The enzymatic synthesis of sphingosine","volume":"233","author":"Brady","year":"1958","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0015","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1016\/S0021-9258(19)77338-4","article-title":"The incorporation of galactose into galactolipides","volume":"233","author":"Burton","year":"1958","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0020","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1212\/WNL.8.Suppl_1.84","article-title":"Studies on the biosynthesis of galactolipids","volume":"8","author":"Burton","year":"1958","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0025","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1126\/science.162.3853.570","article-title":"Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts","volume":"162","author":"Fratantoni","year":"1968","journal-title":"Science"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0030","first-page":"120","article-title":"Intravenous injection of purified hexoaminidase A into a patient with Tay-Sachs disease","volume":"9","author":"Johnson","year":"1973","journal-title":"Birth Defects Orig. Artic. Ser."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0035","doi-asserted-by":"crossref","first-page":"1464","DOI":"10.1056\/NEJM199105233242104","article-title":"Replacement therapy for inherited enzyme deficiency\u2013macrophage-targeted glucocerebrosidase for Gaucher's disease","volume":"324","author":"Barton","year":"1991","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0040","unstructured":"D. Hilbert, Mathematische Probleme, Archiv der Mathematik und Physik, 3dsr 1 (1901) 44\u201363, 213\u2013237."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0045","first-page":"437","article-title":"Mathematical problems, lecture delivered before the international congress of mathematicians at Paris in 1900","volume":"8","author":"Newson","year":"1902","journal-title":"Bull. Am. Math. Soc."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0050","doi-asserted-by":"crossref","first-page":"73","DOI":"10.15252\/emmm.201505966","article-title":"The awesome lysosome","volume":"8","author":"Ballabio","year":"2016","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0055","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.ceb.2015.04.014","article-title":"Beyond indigestion: emerging roles for lysosome-based signaling in human disease","volume":"35","author":"Ferguson","year":"2015","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0060","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1242\/jcs.125773","article-title":"Regulation of mTORC1 and its impact on gene expression at a glance","volume":"126","author":"Laplante","year":"2013","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0065","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature13476","article-title":"Sphingolipid lysosomal storage disorders","volume":"510","author":"Platt","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0070","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1016\/j.tcb.2014.06.006","article-title":"Lysosome: regulator of lipid degradation pathways","volume":"24","author":"Settembre","year":"2014","journal-title":"Trends Cell Biol."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0075","doi-asserted-by":"crossref","first-page":"6519","DOI":"10.1073\/pnas.0700907104","article-title":"Sterol-regulated transport of SREBPs from endoplasmic reticulum to Golgi: Insig renders sorting signal in Scap inaccessible to COPII proteins","volume":"104","author":"Sun","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0080","doi-asserted-by":"crossref","first-page":"6511","DOI":"10.1073\/pnas.0700899104","article-title":"Sterol-regulated transport of SREBPs from endoplasmic reticulum to Golgi: oxysterols block transport by binding to Insig","volume":"104","author":"Radhakrishnan","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0085","doi-asserted-by":"crossref","first-page":"8487","DOI":"10.1016\/S0021-9258(19)40786-2","article-title":"Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein. Observations in cultured fibroblasts from a patient with cholesteryl ester storage disease","volume":"250","author":"Goldstein","year":"1975","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0090","doi-asserted-by":"crossref","first-page":"3852","DOI":"10.1093\/hmg\/ddr306","article-title":"Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways","volume":"20","author":"Palmieri","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0095","doi-asserted-by":"crossref","first-page":"4021","DOI":"10.4161\/cc.8.24.10263","article-title":"Lysosomal enhancement: a CLEAR answer to cellular degradative needs","volume":"8","author":"Sardiello","year":"2009","journal-title":"Cell Cycle"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0100","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1038\/nature18014","article-title":"AMPK-SKP2-CARM1 signalling cascade in transcriptional regulation of autophagy","volume":"534","author":"Shin","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0105","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/j.bbalip.2016.01.006","article-title":"Autophagy, lipophagy and lysosomal lipid storage disorders","volume":"1861","author":"Ward","year":"2016","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0110","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1083\/jcb.201607005","article-title":"The lysosome as a command-and-control center for cellular metabolism","volume":"214","author":"Lim","year":"2016","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0115","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1146\/annurev-cellbio-111315-125125","article-title":"The lysosome as a regulatory hub","volume":"32","author":"Perera","year":"2016","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0120","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1007\/s10545-008-1040-5","article-title":"Pathogenic cascades in lysosomal disease-why so complex?","volume":"32","author":"Walkley","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0125","doi-asserted-by":"crossref","first-page":"417","DOI":"10.3389\/fnins.2015.00417","article-title":"Neuroinflammatory paradigms in lysosomal storage diseases","volume":"9","author":"Bosch","year":"2015","journal-title":"Front. Neurosci."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0130","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aad9823","article-title":"Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses","volume":"8","author":"Kirkegaard","year":"2016","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0135","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1038\/nature08710","article-title":"Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology","volume":"463","author":"Kirkegaard","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0140","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0136633","article-title":"Activation of p38 mitogen-activated protein kinase in Gaucher's disease","volume":"10","author":"Kitatani","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0145","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.10616","article-title":"Intracellular sphingosine releases calcium from lysosomes","volume":"4","author":"Hoglinger","year":"2015","journal-title":"Elife"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0150","doi-asserted-by":"crossref","first-page":"12972","DOI":"10.1074\/jbc.M802790200","article-title":"Involvement of acid \u03b2-glucosidase 1 in the salvage pathway of ceramide formation","volume":"284","author":"Kitatani","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0155","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1038\/ni.3503","article-title":"Interleukin 1\u03b1 and the inflammatory process","volume":"17","author":"Di Paolo","year":"2016","journal-title":"Nat. Immunol."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0160","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/acel.12409","article-title":"Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages","volume":"15","author":"Aflaki","year":"2016","journal-title":"Aging Cell"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0165","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1038\/nrd3800","article-title":"Treating inflammation by blocking interleukin-1 in a broad spectrum of diseases","volume":"11","author":"Dinarello","year":"2012","journal-title":"Nat. Rev. Drug Discov."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0170","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.ymgme.2014.08.011","article-title":"CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11years of therapy: clinical, histopathologic, and biochemical findings","volume":"114","author":"Burrow","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0175","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1038\/nm.1876","article-title":"Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium","volume":"14","author":"Lloyd-Evans","year":"2008","journal-title":"Nat. Med."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0180","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/cne.10522","article-title":"Patterned Purkinje cell degeneration in mouse models of Niemann-Pick type C disease","volume":"456","author":"Sarna","year":"2003","journal-title":"J. Comp. Neurol."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0185","doi-asserted-by":"crossref","first-page":"1873","DOI":"10.1046\/j.0953-816x.2001.01564.x","article-title":"Patterned cerebellar Purkinje cell death in a transgenic mouse model of Niemann Pick type A\/B disease","volume":"13","author":"Sarna","year":"2001","journal-title":"Eur. J. Neurosci."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0190","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1073\/pnas.0912937107","article-title":"Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses","volume":"107","author":"Simonaro","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0195","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":"Li","year":"1999","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0200","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":"Ohmi","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0205","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1016\/j.imbio.2016.06.196","article-title":"Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease","volume":"221","author":"Pandey","year":"2016","journal-title":"Immunobiology"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0210","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1016\/j.jhep.2013.02.014","article-title":"Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease","volume":"58","author":"Bernstein","year":"2013","journal-title":"J. Hepatol."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0215","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1056\/NEJMoa1501365","article-title":"A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency","volume":"373","author":"Burton","year":"2015","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0220","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1097\/MPG.0000000000000935","article-title":"Clinical features of lysosomal acid lipase deficiency","volume":"61","author":"Burton","year":"2015","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0225","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1093\/hmg\/7.9.1347","article-title":"Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage","volume":"7","author":"Du","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0230","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.07999","article-title":"Flux analysis of cholesterol biosynthesis in vivo reveals multiple tissue and cell-type specific pathways","volume":"4","author":"Mitsche","year":"2015","journal-title":"Elife"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0235","series-title":"The Online Metabolic and Molecular Bases of Inherited Diseases","article-title":"Lysosomal acid lipase deficiency: the continuous spectra of disease variants","author":"Grabowski","year":"2016"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0240","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1093\/jb\/mvs105","article-title":"Very long-chain fatty acids: elongation, physiology and related disorders","volume":"152","author":"Kihara","year":"2012","journal-title":"J. Biochem."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0245","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.plipres.2016.04.001","article-title":"Synthesis and degradation pathways, functions, and pathology of ceramides and epidermal acylceramides","volume":"63","author":"Kihara","year":"2016","journal-title":"Prog. Lipid Res."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0250","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.bbalip.2013.08.019","article-title":"Ceramide synthases as potential targets for therapeutic intervention in human diseases","volume":"1841","author":"Park","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0255","doi-asserted-by":"crossref","first-page":"2511","DOI":"10.1016\/j.bbamcr.2013.04.010","article-title":"The complexity of sphingolipid biosynthesis in the endoplasmic reticulum","volume":"1833","author":"Tidhar","year":"2013","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0260","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.plipres.2016.03.006","article-title":"The enigma of ceramide synthase regulation in mammalian cells","volume":"63","author":"Wegner","year":"2016","journal-title":"Prog. Lipid Res."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0265","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.jprot.2014.03.021","article-title":"MALDI imaging mass spectrometry: spatial molecular analysis to enable a new age of discovery","volume":"107","author":"Gessel","year":"2014","journal-title":"J. Proteome"},{"issue":"4","key":"10.1016\/j.ymgme.2016.11.388_bb0270","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1111\/jnc.13840","article-title":"Imaging mass spectrometry reveals loss of polyunsaturated cardiolipins in the cortical contusion, hippocampus, and thalamus after traumatic brain injury","volume":"139","author":"Sparvero","year":"2016","journal-title":"J. Neurochem."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0275","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1369\/0022155415596202","article-title":"Review of matrix-assisted laser desorption ionization-imaging mass spectrometry for lipid biochemical histopathology","volume":"63","author":"Yalcin","year":"2015","journal-title":"J. Histochem. Cytochem."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0280","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1007\/s00401-007-0223-8","article-title":"The neuropathology and clinical phenotype of FTD with progranulin mutations","volume":"114","author":"Mackenzie","year":"2007","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0285","doi-asserted-by":"crossref","first-page":"32298","DOI":"10.1074\/jbc.R112.399170","article-title":"Progranulin: a proteolytically processed protein at the crossroads of inflammation and neurodegeneration","volume":"287","author":"Cenik","year":"2012","journal-title":"J. Biol. Chem."},{"issue":"200","key":"10.1016\/j.ymgme.2016.11.388_bb0290","first-page":"e201","article-title":"Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation","volume":"41","author":"Almeida","year":"2016","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0295","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1001\/jamaneurol.2013.1925","article-title":"A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies","volume":"70","author":"Nalls","year":"2013","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0300","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1056\/NEJMoa0901281","article-title":"Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease","volume":"361","author":"Sidransky","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0305","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.3001417","article-title":"Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease","volume":"2","author":"Porter","year":"2010","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0310","doi-asserted-by":"crossref","first-page":"2324","DOI":"10.1111\/acer.12909","article-title":"Differential sphingolipid and phospholipid profiles in alcohol and nicotine-derived nitrosamine ketone-associated white matter degeneration","volume":"39","author":"Yalcin","year":"2015","journal-title":"Alcohol. Clin. Exp. Res."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0315","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.ymgme.2014.04.006","article-title":"Reversal of advanced disease in lysosomal acid lipase deficient mice: a model for lysosomal acid lipase deficiency disease","volume":"112","author":"Sun","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0320","article-title":"Substrate compositional variation with tissue\/region and Gba1 mutations in mouse models\u2013implications for Gaucher disease","volume":"8","author":"Sun","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0325","doi-asserted-by":"crossref","first-page":"26462","DOI":"10.1074\/jbc.M401447200","article-title":"Rapid evolution of beta-glucuronidase specificity by saturation mutagenesis of an active site loop","volume":"279","author":"Geddie","year":"2004","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0330","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/j.ajhg.2009.09.016","article-title":"Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease","volume":"85","author":"Tajima","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0335","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1086\/498652","article-title":"The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy","volume":"77","author":"Du","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0340","doi-asserted-by":"crossref","first-page":"1646","DOI":"10.1194\/jlr.M700482-JLR200","article-title":"Wolman disease\/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice","volume":"49","author":"Du","year":"2008","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0345","article-title":"Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model","volume":"5","author":"Xu","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0350","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0074912","article-title":"Gaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imiglucerase","volume":"8","author":"Dasgupta","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0355","first-page":"774","article-title":"Multidetector computed tomography (MDCT) for preoperative airway assessment in children with mucopolysaccharidoses","volume":"77","author":"Ingelmo","year":"2011","journal-title":"Minerva Anestesiol."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0360","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/j.ymgme.2014.03.013","article-title":"CT and endoscopic evaluation of larynx and trachea in mucopolysaccharidoses","volume":"112","author":"Morimoto","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0365","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.ymgme.2015.12.002","article-title":"Enzyme replacement for GM1-gangliosidosis: uptake, lysosomal activation, and cellular disease correction using a novel beta-galactosidase:RTB lectin fusion","volume":"117","author":"Condori","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0370","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/mt.2013.267","article-title":"Effective intravenous therapy for neurodegenerative disease with a therapeutic enzyme and a peptide that mediates delivery to the brain","volume":"22","author":"Meng","year":"2014","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0375","doi-asserted-by":"crossref","first-page":"49","DOI":"10.3390\/toxins7010049","article-title":"Ricin trafficking in cells","volume":"7","author":"Spooner","year":"2015","journal-title":"Toxins"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0380","doi-asserted-by":"crossref","first-page":"2164","DOI":"10.1182\/blood-2014-11-608075","article-title":"Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study","volume":"125","author":"Aldenhoven","year":"2015","journal-title":"Blood"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0385","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1007\/s00467-007-0650-8","article-title":"Nephropathic cystinosis: late complications of a multisystemic disease","volume":"23","author":"Nesterova","year":"2008","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0390","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.bcmd.2011.04.005","article-title":"Significant and continuous improvement in bone mineral density among type 1 Gaucher disease patients treated with velaglucerase alfa: 69-month experience, including dose reduction","volume":"47","author":"Elstein","year":"2011","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0395","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1182\/blood-2003-11-3854","article-title":"Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy","volume":"104","author":"Wenstrup","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0400","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1542\/peds.2007-2144","article-title":"Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1","volume":"122","author":"Andersson","year":"2008","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0405","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.bcmd.2010.10.011","article-title":"Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults","volume":"46","author":"Mistry","year":"2011","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0410","doi-asserted-by":"crossref","first-page":"19473","DOI":"10.1073\/pnas.1003308107","article-title":"Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage","volume":"107","author":"Mistry","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0415","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1007\/s10545-010-9072-z","article-title":"Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy","volume":"33","author":"Marshall","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0420","doi-asserted-by":"crossref","first-page":"R65","DOI":"10.1093\/hmg\/ddv457","article-title":"Gene therapy for lysosomal storage disorders: a good start","volume":"25","author":"Biffi","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0425","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1089\/humc.2015.002","article-title":"A review of gene therapy in canine and feline models of lysosomal storage disorders","volume":"26","author":"Bradbury","year":"2015","journal-title":"Hum. Gene Ther. Clin. Dev."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0430","doi-asserted-by":"crossref","DOI":"10.1093\/hmg\/ddw367","article-title":"Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1","author":"Chandler","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0435","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.jconrel.2016.09.011","article-title":"Gene therapy for the CNS using AAVs: the impact of systemic delivery by AAV9","volume":"241","author":"Saraiva","year":"2016","journal-title":"J. Control. Release"},{"key":"10.1016\/j.ymgme.2016.11.388_bb0440","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1517\/17425247.2015.966682","article-title":"Gene therapy for neurologic manifestations of mucopolysaccharidoses","volume":"12","author":"Wolf","year":"2015","journal-title":"Expert Opin. Drug Deliv."},{"key":"10.1016\/j.ymgme.2016.11.388_bb0445","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.coviro.2014.07.008","article-title":"Adeno-associated virus: fit to serve","volume":"8","author":"Zinn","year":"2014","journal-title":"Curr. Opin. Virol."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719216303535?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719216303535?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,7,15]],"date-time":"2022-07-15T09:09:18Z","timestamp":1657876158000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719216303535"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1]]},"references-count":89,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["S1096719216303535"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2016.11.388","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2017,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Ten plus one challenges in diseases of the lysosomal system","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2016.11.388","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}