{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T19:05:22Z","timestamp":1793127922564,"version":"4.5.0"},"reference-count":65,"publisher":"Oxford University Press (OUP)","issue":"24","funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 NS076054 and R37 NS096241"],"award-info":[{"award-number":["R01 NS076054 and R37 NS096241"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["P30 [NS081774]"],"award-info":[{"award-number":["P30 [NS081774]"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008308","name":"Comprehensive Cancer Center","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008308","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,12,15]]},"DOI":"10.1093\/hmg\/ddx364","type":"journal-article","created":{"date-parts":[[2017,9,22]],"date-time":"2017-09-22T19:12:32Z","timestamp":1506107552000},"page":"4861-4872","source":"Crossref","is-referenced-by-count":141,"title":["Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients"],"prefix":"10.1093","volume":"26","author":[{"given":"Clarissa","family":"Valdez","sequence":"first","affiliation":[{"name":"The Ken & Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvette C","family":"Wong","sequence":"additional","affiliation":[{"name":"The Ken & Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Schwake","sequence":"additional","affiliation":[{"name":"The Ken & Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guojun","family":"Bu","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zbigniew K","family":"Wszolek","sequence":"additional","affiliation":[{"name":"Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitri","family":"Krainc","sequence":"additional","affiliation":[{"name":"The Ken & Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2017,9,25]]},"reference":[{"key":"key\n\t\t\t\t20180314012243_ddx364-B1","doi-asserted-by":"crossref","first-page":"130","DOI":"10.3109\/09540261.2013.776523","article-title":"The epidemiology of frontotemporal dementia","volume":"25","author":"Onyike","year":"2013","journal-title":"Int. Rev. Psychiatry"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B2","doi-asserted-by":"crossref","first-page":"88","DOI":"10.2174\/1745017901309010088","article-title":"Epidemiology of early-onset dementia: a review of the literature","volume":"9","author":"Vieira","year":"2013","journal-title":"Clin. Pract. Epidemiol. Ment. Health"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B3","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1001\/archneur.56.7.817","article-title":"Inheritance of frontotemporal dementia","volume":"56","author":"Chow","year":"1999","journal-title":"Arch. Neurol"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B4","doi-asserted-by":"crossref","first-page":"2456","DOI":"10.1093\/brain\/awr179","article-title":"Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia","volume":"134","author":"Rascovsky","year":"2011","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B5","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1001\/jamaneurol.2013.3956","article-title":"Development and validation of pedigree classification criteria for frontotemporal lobar degeneration","volume":"70","author":"Wood","year":"2013","journal-title":"JAMA Neurol"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B6","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1212\/WNL.0b013e3181bf997a","article-title":"The heritability and genetics of frontotemporal lobar degeneration","volume":"73","author":"Rohrer","year":"2009","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B7","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1016\/j.jalz.2008.09.001","article-title":"Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family","volume":"4","author":"Chiang","year":"2008","journal-title":"Alzheimers Dement"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B8","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/humu.20681","article-title":"Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia","volume":"29","author":"Mukherjee","year":"2008","journal-title":"Hum. Mut"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B9","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1038\/nature05016","article-title":"Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17","volume":"442","author":"Baker","year":"2006","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B10","doi-asserted-by":"crossref","first-page":"1168","DOI":"10.1002\/mds.22065","article-title":"Progranulin gene mutation with an unusual clinical and neuropathologic presentation","volume":"23","author":"Wider","year":"2008","journal-title":"Mov. Disord"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B11","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.tins.2014.04.003","article-title":"Progranulin in neurodegenerative disease","volume":"37","author":"Petkau","year":"2014","journal-title":"Trends Neurosci"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B12","doi-asserted-by":"crossref","first-page":"2988","DOI":"10.1093\/hmg\/ddl241","article-title":"Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration","volume":"15","author":"Gass","year":"2006","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B13","doi-asserted-by":"crossref","first-page":"3931","DOI":"10.1002\/cne.22430","article-title":"Progranulin expression in the developing and adult murine brain","volume":"518","author":"Petkau","year":"2010","journal-title":"J. Comp. Neurol"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B14","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1084\/jem.20091568","article-title":"Exaggerated inflammation, impaired host defense, and neuropathology in progranulin-deficient mice","volume":"207","author":"Yin","year":"2010","journal-title":"J. Exp. Med"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B15","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1126\/science.1199214","article-title":"The growth factor progranulin binds to TNF receptors and is therapeutic against inflammatory arthritis in mice","volume":"332","author":"Tang","year":"2011","journal-title":"Science"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B16","doi-asserted-by":"crossref","first-page":"21115.","DOI":"10.1038\/srep21115","article-title":"Progranulin inhibits expression and release of chemokines CXCL9 and CXCL10 in a TNFR1 dependent manner","volume":"6","author":"Mundra","year":"2016","journal-title":"Sci. Rep"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B17","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/nm816","article-title":"Progranulin is a mediator of the wound response","volume":"9","author":"He","year":"2003","journal-title":"Nat. Med"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B18","first-page":"5590","article-title":"Progranulin (PC-cell-derived growth factor\/acrogranin) regulates invasion and cell survival","volume":"62","author":"He","year":"2002","journal-title":"Cancer Res"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B19","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1016\/S0092-8674(02)01141-8","article-title":"Conversion of proepithelin to epithelins: roles of SLPI and elastase in host defense and wound repair","volume":"111","author":"Zhu","year":"2002","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B20","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1083\/jcb.200712039","article-title":"Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival","volume":"181","author":"Van Damme","year":"2008","journal-title":"J. Cell Biol"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B21","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1007\/s13238-010-0067-1","article-title":"Progranulin promotes neurite outgrowth and neuronal differentiation by regulating GSK-3beta","volume":"1","author":"Gao","year":"2010","journal-title":"Protein Cell"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B22","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/j.nbd.2011.10.016","article-title":"Synaptic dysfunction in progranulin-deficient mice","volume":"45","author":"Petkau","year":"2012","journal-title":"Neurobiol. Dis"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B23","doi-asserted-by":"crossref","first-page":"e26454.","DOI":"10.1371\/journal.pone.0026454","article-title":"Progranulin, a glycoprotein deficient in frontotemporal dementia, is a novel substrate of several protein disulfide isomerase family proteins","volume":"6","author":"Almeida","year":"2011","journal-title":"PloS One"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B24","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1016\/j.neuron.2010.09.034","article-title":"Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin","volume":"68","author":"Hu","year":"2010","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B25","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.neuroscience.2013.06.049","article-title":"Increased lysosomal biogenesis in activated microglia and exacerbated neuronal damage after traumatic brain injury in progranulin-deficient mice","volume":"250","author":"Tanaka","year":"2013","journal-title":"Neuroscience"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B26","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1016\/j.ajhg.2012.04.021","article-title":"Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage","volume":"90","author":"Smith","year":"2012","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B27","doi-asserted-by":"crossref","first-page":"200 e201","DOI":"10.1016\/j.neurobiolaging.2016.02.019","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":"key\n\t\t\t\t20180314012243_ddx364-B28","doi-asserted-by":"crossref","first-page":"78.","DOI":"10.1186\/s40478-014-0078-x","article-title":"Possible involvement of lysosomal dysfunction in pathological changes of the brain in aged progranulin-deficient mice","volume":"2","author":"Tanaka","year":"2014","journal-title":"Acta Neuropathol. Commun"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B29","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1002\/path.4043","article-title":"Cellular ageing, increased mortality and FTLD-TDP-associated neuropathology in progranulin knockout mice","volume":"228","author":"Wils","year":"2012","journal-title":"J. Pathol"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B30","doi-asserted-by":"crossref","first-page":"1438","DOI":"10.1093\/brain\/awl107","article-title":"Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis","volume":"129","author":"Siintola","year":"2006","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B31","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1086\/504159","article-title":"Cathepsin D deficiency is associated with a human neurodegenerative disorder","volume":"78","author":"Steinfeld","year":"2006","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B32","doi-asserted-by":"crossref","first-page":"2786","DOI":"10.1093\/emboj\/19.12.2786","article-title":"A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration","volume":"19","author":"Tyynela","year":"2000","journal-title":"EMBO J"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B33","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/0006-8993(81)91281-6","article-title":"Immunocytochemical localization of cathepsin D in rat neural tissue","volume":"216","author":"Whitaker","year":"1981","journal-title":"Brain Res"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B34","doi-asserted-by":"crossref","first-page":"2207","DOI":"10.1111\/j.1471-4159.1992.tb10965.x","article-title":"The distribution of cathepsin D activity in adult and aging human brain regions","volume":"58","author":"Banay-Schwartz","year":"1992","journal-title":"J. Neurochem"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B35","first-page":"139","article-title":"Lysosomes and protein degradation","author":"Dean","year":"1979","journal-title":"Ciba Found. Symp"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B36","doi-asserted-by":"crossref","first-page":"577","DOI":"10.3233\/JAD-2001-3608","article-title":"Limited proteolysis of NACP\/alpha-synuclein","volume":"3","author":"Hossain","year":"2001","journal-title":"J. Alzheimers Dis"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B37","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.1038\/nprot.2013.143","article-title":"Genome engineering using the CRISPR-Cas9 system","volume":"8","author":"Ran","year":"2013","journal-title":"Nat. Protoc"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B38","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1038\/ng.536","article-title":"Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions","volume":"42","author":"Van Deerlin","year":"2010","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B39","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1016\/j.neuron.2013.05.029","article-title":"Rapid single-step induction of functional neurons from human pluripotent stem cells","volume":"78","author":"Zhang","year":"2013","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B40","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/j.bbrc.2006.10.093","article-title":"TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis","volume":"351","author":"Arai","year":"2006","journal-title":"Biochem. Biophys. Res. Commun"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B41","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1111\/j.1750-3639.2009.00284.x","article-title":"TDP-43 redistribution is an early event in sporadic amyotrophic lateral sclerosis","volume":"20","author":"Giordana","year":"2010","journal-title":"Brain Pathol"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B42","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1126\/science.1134108","article-title":"Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis","volume":"314","author":"Neumann","year":"2006","journal-title":"Science"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B43","doi-asserted-by":"crossref","first-page":"13302","DOI":"10.1074\/jbc.M800342200","article-title":"Disturbance of nuclear and cytoplasmic TAR DNA-binding protein (TDP-43) induces disease-like redistribution, sequestration, and aggregate formation","volume":"283","author":"Winton","year":"2008","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B44","doi-asserted-by":"crossref","first-page":"2252","DOI":"10.1016\/j.febslet.2008.05.024","article-title":"A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro","volume":"582","author":"Winton","year":"2008","journal-title":"FEBS Lett"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B45","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.tins.2011.05.002","article-title":"TDP-43 and FUS: a nuclear affair","volume":"34","author":"Dormann","year":"2011","journal-title":"Trends Neurosci"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B46","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1016\/j.bbadis.2006.05.007","article-title":"Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins","volume":"1762","author":"Kyttala","year":"2006","journal-title":"Biochim. Biophys. Acta"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B47","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/jcp.1041150210","article-title":"Regulation of intracellular protein degradation in IMR-90 human diploid fibroblasts","volume":"115","author":"Auteri","year":"1983","journal-title":"J. Cell. Physiol"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B48","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1110\/ps.073295308","article-title":"Structure dissection of human progranulin identifies well-folded granulin\/epithelin modules with unique functional activities","volume":"17","author":"Tolkatchev","year":"2008","journal-title":"Protein Sci"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B49","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.2353\/ajpath.2006.060438","article-title":"Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies","volume":"169","author":"Sampathu","year":"2006","journal-title":"Am. J. Pathol"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B50","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/j.neurol.2013.07.014","article-title":"Genetics of frontotemporal lobar degeneration: an up-date and diagnosis algorithm","volume":"169","author":"Le Ber","year":"2013","journal-title":"Rev. Neurol"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B51","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1136\/jnnp.2010.212225","article-title":"Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review","volume":"82","author":"Seelaar","year":"2011","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B52","first-page":"969","article-title":"Progranulin regulates lysosomal function and biogenesis through acidification of lysosomes","volume":"26","author":"Tanaka","year":"2017","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B53","doi-asserted-by":"crossref","first-page":"2850","DOI":"10.1093\/hmg\/ddx162","article-title":"Progranulin functions as a cathepsin D chaperone to stimulate axonal outgrowth in vivo","volume":"26","author":"Beel","year":"2017","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B54","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s00401-017-1719-5","article-title":"Regulation of cathepsin D activity by the FTLD protein progranulin","volume":"134","author":"Zhou","year":"2017","journal-title":"Acta Neuropathol"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B55","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aah5642","article-title":"Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis","volume":"9","author":"Ward","year":"2017","journal-title":"Sci. Transl. Med"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B56","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1016\/S0022-2275(20)40540-1","article-title":"Saposins: structure, function, distribution, and molecular genetics","volume":"33","author":"Kishimoto","year":"1992","journal-title":"J. Lipid Res"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B57","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1016\/S0014-5793(97)01302-1","article-title":"Saposins (sap) A and C activate the degradation of galactosylceramide in living cells","volume":"417","author":"Harzer","year":"1997","journal-title":"FEBS Lett"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B58","doi-asserted-by":"crossref","first-page":"11544","DOI":"10.1021\/bi980785+","article-title":"Acid beta-glucosidase: intrinsic fluorescence and conformational changes induced by phospholipids and saposin C","volume":"37","author":"Qi","year":"1998","journal-title":"Biochemistry"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B59","doi-asserted-by":"crossref","first-page":"31918","DOI":"10.1074\/jbc.M302752200","article-title":"Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradation","volume":"278","author":"Sun","year":"2003","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B60","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1515\/bchm2.1975.356.1.605","article-title":"The activator of cerebroside sulphatase. Purification from human liver and identification as a protein","volume":"356","author":"Fischer","year":"1975","journal-title":"Hoppe Seylers Z Physiol. Chem"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B61","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/S0006-291X(88)80855-6","article-title":"Saposin D: a sphingomyelinase activator","volume":"156","author":"Morimoto","year":"1988","journal-title":"Biochem. Biophys. Res. Commun"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B62","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.ymgme.2004.10.004","article-title":"A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans","volume":"84","author":"Spiegel","year":"2005","journal-title":"Mol. Genet. Metab"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B63","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/0014-5793(91)80760-Z","article-title":"Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease","volume":"284","author":"Schnabel","year":"1991","journal-title":"FEBS Lett"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B64","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1007\/s00439-005-1288-x","article-title":"A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity","volume":"117","author":"Diaz-Font","year":"2005","journal-title":"Hum. Genet"},{"key":"key\n\t\t\t\t20180314012243_ddx364-B65","doi-asserted-by":"crossref","first-page":"2987","DOI":"10.1093\/hmg\/ddq204","article-title":"Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting","volume":"19","author":"Vaccaro","year":"2010","journal-title":"Hum. Mol. Genet"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/26\/24\/4861\/24339243\/ddx364.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,27]],"date-time":"2024-06-27T05:35:42Z","timestamp":1719466542000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/26\/24\/4861\/4211177"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,25]]},"references-count":65,"journal-issue":{"issue":"24","published-online":{"date-parts":[[2017,9,25]]},"published-print":{"date-parts":[[2017,12,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddx364","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2017,12,15]]},"published":{"date-parts":[[2017,9,25]]}}}