{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:06:09Z","timestamp":1791216369564,"version":"4.1.0"},"reference-count":44,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2008,7,1]],"date-time":"2008-07-01T00:00:00Z","timestamp":1214870400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,7,1]],"date-time":"2008-07-01T00:00:00Z","timestamp":1214870400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2008,7]]},"DOI":"10.1016\/j.nmd.2008.04.010","type":"journal-article","created":{"date-parts":[[2008,5,28]],"date-time":"2008-05-28T13:52:57Z","timestamp":1211982777000},"page":"521-529","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":139,"title":["Lysosomal myopathies: An excessive build-up in autophagosomes is too much to handle"],"prefix":"10.1016","volume":"18","author":[{"given":"May Christine","family":"Malicdan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoru","family":"Noguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikuya","family":"Nonaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Saftig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2008.04.010_bib1","series-title":"Molecular biology of the cell","author":"Alberts","year":"2002"},{"key":"10.1016\/j.nmd.2008.04.010_bib2","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/BF03402040","article-title":"The molecular mechanism of autophagy","volume":"9","author":"Wang","year":"2003","journal-title":"Mol Med"},{"issue":"Suppl. 2","key":"10.1016\/j.nmd.2008.04.010_bib3","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1038\/sj.cdd.4401765","article-title":"Autophagy: molecular machinery for self-eating","volume":"12","author":"Yorimitsu","year":"2005","journal-title":"Cell Death Differ"},{"key":"10.1016\/j.nmd.2008.04.010_bib4","doi-asserted-by":"crossref","first-page":"2861","DOI":"10.1101\/gad.1599207","article-title":"Autophagy: process and function","volume":"21","author":"Mizushima","year":"2007","journal-title":"Genes Dev"},{"key":"10.1016\/j.nmd.2008.04.010_bib5","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1091\/mbc.e03-09-0704","article-title":"In vivo analysis of autophagy in response to nutrient starvation using transgenic mice expressing a fluorescent autophagosome marker","volume":"15","author":"Mizushima","year":"2004","journal-title":"Mol Biol Cell"},{"key":"10.1016\/j.nmd.2008.04.010_bib6","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1212\/01.WNL.0000069605.00498.BD","article-title":"A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement","volume":"61","author":"Kaneda","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2008.04.010_bib7","first-page":"80","article-title":"Molecular pathomechanism of distal myopathy with rimmed vacuoles","volume":"24","author":"Nishino","year":"2005","journal-title":"Acta Myol"},{"key":"10.1016\/j.nmd.2008.04.010_bib8","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/0022-510X(81)90067-8","article-title":"Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation","volume":"51","author":"Nonaka","year":"1981","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.nmd.2008.04.010_bib9","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1126\/science.1099993","article-title":"Autophagy in health and disease: a double-edged sword","volume":"306","author":"Shintani","year":"2004","journal-title":"Science"},{"key":"10.1016\/j.nmd.2008.04.010_bib10","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1212\/01.wnl.0000178979.19887.f5","article-title":"A new congenital form of X-linked autophagic vacuolar myopathy","volume":"65","author":"Yan","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2008.04.010_bib11","doi-asserted-by":"crossref","first-page":"396","DOI":"10.4161\/auto.4270","article-title":"Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy","volume":"3","author":"Malicdan","year":"2007","journal-title":"Autophagy"},{"key":"10.1016\/j.nmd.2008.04.010_bib12","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.spen.2006.06.004","article-title":"Autophagic vacuolar myopathy","volume":"13","author":"Nishino","year":"2006","journal-title":"Semin Pediatr Neurol"},{"key":"10.1016\/j.nmd.2008.04.010_bib13","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1093\/jnen\/64.6.513","article-title":"Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies","volume":"64","author":"Sugie","year":"2005","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1016\/j.nmd.2008.04.010_bib14","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1212\/WNL.31.1.51","article-title":"Lysosomal glycogen storage disease with normal acidic maltase","volume":"31","author":"Danon","year":"1981","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2008.04.010_bib15","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1038\/35022604","article-title":"Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)","volume":"406","author":"Nishino","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2008.04.010_bib16","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1007\/s11910-003-0040-y","article-title":"Autophagic vacuolar myopathies","volume":"3","author":"Nishino","year":"2003","journal-title":"Curr Neurol Neurosci Rep"},{"key":"10.1016\/j.nmd.2008.04.010_bib17","doi-asserted-by":"crossref","first-page":"1773","DOI":"10.1212\/WNL.58.12.1773","article-title":"Clinicopathological features of genetically confirmed Danon disease","volume":"58","author":"Sugie","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2008.04.010_bib18","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1038\/35022595","article-title":"Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice","volume":"406","author":"Tanaka","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2008.04.010_bib19","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1016\/j.ophtha.2006.02.030","article-title":"Ophthalmic manifestations of Danon disease","volume":"113","author":"Prall","year":"2006","journal-title":"Ophthalmology"},{"key":"10.1016\/j.nmd.2008.04.010_bib20","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1001\/archopht.125.2.231","article-title":"Retinopathy in Danon disease","volume":"125","author":"Schorderet","year":"2007","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.nmd.2008.04.010_bib21","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/S0962-8924(03)00005-9","article-title":"At the acidic edge: emerging functions for lysosomal membrane proteins","volume":"13","author":"Eskelinen","year":"2003","journal-title":"Trends Cell Biol"},{"key":"10.1016\/j.nmd.2008.04.010_bib22","doi-asserted-by":"crossref","first-page":"295","DOI":"10.4161\/auto.4144","article-title":"Chaperone-mediated autophagy","volume":"3","author":"Dice","year":"2007","journal-title":"Autophagy"},{"key":"10.1016\/j.nmd.2008.04.010_bib23","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S0070-2153(05)73007-6","article-title":"Chaperone-mediated autophagy in aging and disease","volume":"73","author":"Massey","year":"2006","journal-title":"Curr Top Dev Biol"},{"key":"10.1016\/j.nmd.2008.04.010_bib24","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1083\/jcb.200311064","article-title":"Localization of the AP-3 adaptor complex defines a novel endosomal exit site for lysosomal membrane protein","volume":"164","author":"Peden","year":"2004","journal-title":"J Cell Biol"},{"key":"10.1016\/j.nmd.2008.04.010_bib25","doi-asserted-by":"crossref","first-page":"3355","DOI":"10.1091\/mbc.e02-02-0114","article-title":"Role of LAMP-2 in lysosome biogenesis and autophagy","volume":"13","author":"Eskelinen","year":"2002","journal-title":"Mol Biol Cell"},{"key":"10.1016\/j.nmd.2008.04.010_bib26","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1007\/s00395-006-0591-6","article-title":"LAMP-2 deficient mice show depressed cardiac contractile function without significant changes in calcium handling","volume":"101","author":"Stypmann","year":"2006","journal-title":"Basic Res Cardiol"},{"key":"10.1016\/j.nmd.2008.04.010_bib27","doi-asserted-by":"crossref","first-page":"12692","DOI":"10.1074\/jbc.274.18.12692","article-title":"Normal lysosomal morphology and function in LAMP-1-deficient mice","volume":"274","author":"Andrejewski","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2008.04.010_bib28","doi-asserted-by":"crossref","first-page":"3132","DOI":"10.1091\/mbc.e04-02-0103","article-title":"Disturbed cholesterol traffic but normal proteolytic function in LAMP-1\/LAMP-2 double-deficient fibroblasts","volume":"15","author":"Eskelinen","year":"2004","journal-title":"Mol Biol Cell"},{"key":"10.1016\/j.nmd.2008.04.010_bib29","doi-asserted-by":"crossref","first-page":"5720","DOI":"10.1093\/emboj\/19.21.5720","article-title":"LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processing","volume":"19","author":"Kabeya","year":"2000","journal-title":"EMBO J"},{"key":"10.1016\/j.nmd.2008.04.010_bib30","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/sj.emboj.7601511","article-title":"LAMP proteins are required for fusion of lysosomes with phagosomes","volume":"26","author":"Huynh","year":"2007","journal-title":"EMBO J"},{"key":"10.1016\/j.nmd.2008.04.010_bib31","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1002\/ana.410230308","article-title":"X-linked myopathy with excessive autophagy: a new hereditary muscle disease","volume":"23","author":"Kalimo","year":"1988","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2008.04.010_bib32","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/ana.410410121","article-title":"X-linked vacuolated myopathy: membrane attack complex deposition on muscle fiber membranes with calcium accumulation on sarcolemma","volume":"41","author":"Louboutin","year":"1997","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2008.04.010_bib33","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1002\/ana.410370514","article-title":"X-linked vacuolated myopathy: complement membrane attack complex on surface membranes of injured muscle fibers","volume":"37","author":"Villanova","year":"1995","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2008.04.010_bib34","doi-asserted-by":"crossref","first-page":"145","DOI":"10.2174\/1566524024605789","article-title":"Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease)","volume":"2","author":"Raben","year":"2002","journal-title":"Curr Mol Med"},{"key":"10.1016\/j.nmd.2008.04.010_bib35","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1212\/WNL.17.6.537","article-title":"Muscular form of glycogenosis, type II (Pompe)","volume":"17","author":"Smith","year":"1967","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2008.04.010_bib36","first-page":"42","article-title":"Glycogen storage disease type II: clinical overview","volume":"26","author":"Di Rocco","year":"2007","journal-title":"Acta Myol"},{"key":"10.1016\/j.nmd.2008.04.010_bib37","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1093\/brain\/awh384","article-title":"Clinical manifestation and natural course of late-onset Pompe\u2019s disease in 54 Dutch patients","volume":"128","author":"Hagemans","year":"2005","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2008.04.010_bib38","series-title":"The metabolic and molecular bases of inherited disease","article-title":"Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency","author":"Hirschhorn","year":"2001"},{"key":"10.1016\/j.nmd.2008.04.010_bib39","first-page":"132","article-title":"Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I\/II clinical trial","volume":"3","author":"Amalfitano","year":"2001","journal-title":"Genet Med"},{"key":"10.1016\/j.nmd.2008.04.010_bib40","first-page":"164","article-title":"Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II","volume":"1637","author":"Hesselink","year":"2003","journal-title":"Biochem Biophys Acta"},{"key":"10.1016\/j.nmd.2008.04.010_bib41","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1093\/hmg\/7.1.53","article-title":"Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease","volume":"7","author":"Bijvoet","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2008.04.010_bib42","doi-asserted-by":"crossref","first-page":"19086","DOI":"10.1074\/jbc.273.30.19086","volume":"273","author":"Raben","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2008.04.010_bib43","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1002\/ana.20807","article-title":"Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease","volume":"59","author":"Fukuda","year":"2006","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2008.04.010_bib44","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"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896608001065?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896608001065?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:56:07Z","timestamp":1760774167000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896608001065"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7]]},"references-count":44,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2008,7]]}},"alternative-id":["S0960896608001065"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2008.04.010","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2008,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Lysosomal myopathies: An excessive build-up in autophagosomes is too much to handle","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2008.04.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2008 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}