{"id":"https://openalex.org/W2081024586","doi":"https://doi.org/10.1172/jci109804","title":"Decreased Lysosomal Dipeptidyl Aminopeptidase I Activity in Cultured Human Skin Fibroblasts in Duchenne's Muscular Dystrophy","display_name":"Decreased Lysosomal Dipeptidyl Aminopeptidase I Activity in Cultured Human Skin Fibroblasts in Duchenne's Muscular Dystrophy","publication_year":1980,"publication_date":"1980-06-01","ids":{"openalex":"https://openalex.org/W2081024586","doi":"https://doi.org/10.1172/jci109804","mag":"2081024586","pmid":"https://pubmed.ncbi.nlm.nih.gov/6773986","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/371478"},"language":"en","primary_location":{"id":"doi:10.1172/jci109804","doi":"https://doi.org/10.1172/jci109804","is_oa":true,"landing_page_url":"https://doi.org/10.1172/jci109804","pdf_url":"http://www.jci.org/articles/view/109804/files/pdf","source":{"id":"https://openalex.org/S114430552","display_name":"Journal of Clinical Investigation","issn_l":"0021-9738","issn":["0021-9738","1558-8238"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320279","host_organization_name":"American Society for Clinical Investigation","host_organization_lineage":["https://openalex.org/P4310320279"],"host_organization_lineage_names":["American Society for Clinical Investigation"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Investigation","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.jci.org/articles/view/109804/files/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5111725057","display_name":"Benjamin B. Gelman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Benjamin B. Gelman","raw_affiliation_strings":["Department of Biological Chemistry , University of Cincinnati College of Medicine , Cincinnati , Ohio 45267","University of Cincinnati"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Chemistry , University of Cincinnati College of Medicine , Cincinnati , Ohio 45267","institution_ids":["https://openalex.org/I63135867"]},{"raw_affiliation_string":"University of Cincinnati","institution_ids":["https://openalex.org/I63135867"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Linda Papa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Linda Papa","raw_affiliation_strings":["Department of Biological Chemistry , University of Cincinnati College of Medicine , Cincinnati , Ohio 45267","University of Cincinnati"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Chemistry , University of Cincinnati College of Medicine , Cincinnati , Ohio 45267","institution_ids":["https://openalex.org/I63135867"]},{"raw_affiliation_string":"University of Cincinnati","institution_ids":["https://openalex.org/I63135867"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112869766","display_name":"Michael Harold Davis","orcid":"https://orcid.org/0000-0001-9714-1018","observed_orcids":["https://orcid.org/0000-0001-9714-1018"]},"institutions":[{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael H. Davis","raw_affiliation_strings":["Department of Biological Chemistry , University of Cincinnati College of Medicine , Cincinnati , Ohio 45267","University of Cincinnati"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Chemistry , University of Cincinnati College of Medicine , Cincinnati , Ohio 45267","institution_ids":["https://openalex.org/I63135867"]},{"raw_affiliation_string":"University of Cincinnati","institution_ids":["https://openalex.org/I63135867"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5087604232","display_name":"Eric Gruenstein","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eric Gruenstein","raw_affiliation_strings":["Department of Biological Chemistry , University of Cincinnati College of Medicine , Cincinnati , Ohio 45267","University of Cincinnati"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Chemistry , University of Cincinnati College of Medicine , Cincinnati , Ohio 45267","institution_ids":["https://openalex.org/I63135867"]},{"raw_affiliation_string":"University of Cincinnati","institution_ids":["https://openalex.org/I63135867"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I63135867"],"apc_list":{"value":5200,"currency":"USD","value_usd":5200},"apc_paid":null,"fwci":1.8318,"has_fulltext":true,"cited_by_count":35,"citation_normalized_percentile":{"value":0.84910828,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"65","issue":"6","first_page":"1398","last_page":"1406"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9150000214576721,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9150000214576721,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10620","display_name":"Protease and Inhibitor Mechanisms","score":0.020800000056624413,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.014399999752640724,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/duchenne-muscular-dystrophy","display_name":"Duchenne muscular dystrophy","score":0.9860000014305115},{"id":"https://openalex.org/keywords/cathepsin-c","display_name":"cathepsin C","score":0.996999979019165},{"id":"https://openalex.org/keywords/lysosomal-enzymes","display_name":"lysosomal enzymes","score":0.8820000290870667},{"id":"https://openalex.org/keywords/dermal-fibroblasts","display_name":"dermal fibroblasts","score":0.9350000023841858},{"id":"https://openalex.org/keywords/enzyme-activity","display_name":"enzyme activity","score":0.5569999814033508},{"id":"https://openalex.org/keywords/lysosomal-glycosidases","display_name":"lysosomal glycosidases","score":0.847000002861023},{"id":"https://openalex.org/keywords/cathepsin-b","display_name":"cathepsin B","score":0.9459999799728394},{"id":"https://openalex.org/keywords/enzyme-deficiency","display_name":"enzyme deficiency","score":0.42800000309944153},{"id":"https://openalex.org/keywords/chloride-activation","display_name":"chloride activation","score":0.578000009059906}],"concepts":[{"id":"https://openalex.org/C2778943923","wikidata":"https://www.wikidata.org/wiki/Q1648484","display_name":"Duchenne muscular dystrophy","level":2,"score":0.8159734606742859},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.6114893555641174},{"id":"https://openalex.org/C167844969","wikidata":"https://www.wikidata.org/wiki/Q426245","display_name":"Cathepsin","level":3,"score":0.5234060883522034},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.4827508330345154},{"id":"https://openalex.org/C2777824588","wikidata":"https://www.wikidata.org/wiki/Q414783","display_name":"Dithiothreitol","level":3,"score":0.4527164399623871},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.4303418695926666},{"id":"https://openalex.org/C2777459323","wikidata":"https://www.wikidata.org/wiki/Q5259911","display_name":"Human skin","level":2,"score":0.42582976818084717},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.4217562675476074},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4081445336341858},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2649078667163849},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.22440847754478455},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.11199989914894104},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D001616","descriptor_name":"beta-Galactosidase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D001617","descriptor_name":"beta-Glucosidase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002403","descriptor_name":"Cathepsins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D002458","descriptor_name":"Cell Fractionation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005966","descriptor_name":"Glucuronidase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008247","descriptor_name":"Lysosomes","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D012867","descriptor_name":"Skin","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1172/jci109804","doi":"https://doi.org/10.1172/jci109804","is_oa":true,"landing_page_url":"https://doi.org/10.1172/jci109804","pdf_url":"http://www.jci.org/articles/view/109804/files/pdf","source":{"id":"https://openalex.org/S114430552","display_name":"Journal of Clinical Investigation","issn_l":"0021-9738","issn":["0021-9738","1558-8238"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320279","host_organization_name":"American Society for Clinical Investigation","host_organization_lineage":["https://openalex.org/P4310320279"],"host_organization_lineage_names":["American Society for Clinical Investigation"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Investigation","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:371478","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/371478","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Clin Invest","raw_type":"Text"},{"id":"pmid:6773986","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/6773986","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of clinical investigation","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1172/jci109804","doi":"https://doi.org/10.1172/jci109804","is_oa":true,"landing_page_url":"https://doi.org/10.1172/jci109804","pdf_url":"http://www.jci.org/articles/view/109804/files/pdf","source":{"id":"https://openalex.org/S114430552","display_name":"Journal of Clinical Investigation","issn_l":"0021-9738","issn":["0021-9738","1558-8238"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320279","host_organization_name":"American Society for Clinical Investigation","host_organization_lineage":["https://openalex.org/P4310320279"],"host_organization_lineage_names":["American Society for Clinical Investigation"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Investigation","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8048999905586243}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320308306","display_name":"Muscular Dystrophy Association","ror":"https://ror.org/01frxsf98"},{"id":"https://openalex.org/F4320310256","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2081024586.pdf","grobid_xml":"https://content.openalex.org/works/W2081024586.grobid-xml"},"referenced_works_count":29,"referenced_works":["https://openalex.org/W1554921443","https://openalex.org/W1581124098","https://openalex.org/W1775749144","https://openalex.org/W1964534262","https://openalex.org/W1988361400","https://openalex.org/W1989631411","https://openalex.org/W1993530244","https://openalex.org/W1997099320","https://openalex.org/W2001470146","https://openalex.org/W2002411396","https://openalex.org/W2012096041","https://openalex.org/W2013173357","https://openalex.org/W2016321640","https://openalex.org/W2042991371","https://openalex.org/W2049811450","https://openalex.org/W2055873082","https://openalex.org/W2058328524","https://openalex.org/W2059496748","https://openalex.org/W2066277412","https://openalex.org/W2068490218","https://openalex.org/W2085732187","https://openalex.org/W2126571971","https://openalex.org/W2150858279","https://openalex.org/W2163858224","https://openalex.org/W2295017435","https://openalex.org/W2403764905","https://openalex.org/W2412022047","https://openalex.org/W4232553805","https://openalex.org/W4300638818"],"related_works":["https://openalex.org/W1994770405","https://openalex.org/W2033548011","https://openalex.org/W2098959421","https://openalex.org/W2041322778","https://openalex.org/W1989590806","https://openalex.org/W2004915199","https://openalex.org/W2050888273","https://openalex.org/W2037016164","https://openalex.org/W1999708231","https://openalex.org/W1972233785"],"abstract_inverted_index":{"Several":[0],"lysosomal":[1],"enzymes":[2],"were":[3,37],"assayed":[4],"in":[5,50,63,89,96,118,124,133,149,176,191,216,229],"cultured":[6],"human":[7,219],"skin":[8,220],"fibroblasts":[9,100,221],"from":[10,182],"patients":[11,22],"with":[12,103],"Duchenne's":[13],"muscular":[14],"dystrophy":[15],"(DMD)":[16],"and":[17,19,31,98,131,142,169,172],"age-":[18],"sex-matched":[20],"control":[21,65],"(N).":[23],"The":[24],"activity":[25,94,179],"of":[26,76,81,140,161,208,212],"four":[27],"glycosidases,":[28],"cathepsin":[29,48],"B(1),":[30],"total":[32],"autoproteolysis":[33],"at":[34],"pH":[35],"4.0":[36],"unchanged":[38],"between":[39,167],"the":[40,51,64,74,86,112,155,158,162,174,183,192,209,213],"groups,":[41],"but":[42],"dipeptidyl":[43],"aminopeptidase":[44],"I":[45],"(DAP-I,":[46],"or":[47,79],"C)":[49],"DMD":[52,99,143,170,193,230],"cells":[53,66,204],"was":[54],"found":[55],"to":[56,105],"be":[57,224],"only":[58],"30%":[59],"as":[60,62],"active":[61],"(P":[67],"<":[68],"0.003).":[69],"This":[70],"difference":[71,87],"is":[72,165],"not":[73],"result":[75],"a":[77,225],"redistribution":[78],"loss":[80],"enzyme":[82,187],"during":[83],"homogenization":[84],"because":[85],"occurs":[88],"all":[90],"homogenate":[91],"fractions.":[92],"DAP-I":[93,150,163,178],"existing":[95],"N":[97,141,168],"behaves":[101],"identically":[102],"respect":[104],"activation":[106,110,137],"by":[107,111],"chloride":[108],"ion,":[109],"sulfhydryl":[113],"reducing":[114],"agent":[115],"dithiothreitol,":[116],"changes":[117,123,132],"hydrogen":[119],"ion":[120],"concentration":[121,126],"(pH),":[122],"substrate":[125],"(i.e.,":[127,135],"apparent":[128,136],"K(m)":[129],"values),":[130],"temperature":[134],"energies).":[138],"Mixtures":[139],"cell":[144],"sonicates":[145],"display":[146],"an":[147,199],"additivity":[148],"activity.":[151],"These":[152,195],"results":[153,181,196],"support":[154],"conclusion":[156],"that":[157,173,185,201],"catalytic":[159],"function":[160],"molecule":[164],"equivalent":[166],"fibroblasts,":[171],"decrease":[175],"tissue-specific":[177],"probably":[180],"fact":[184],"fewer":[186],"molecules":[188],"are":[189,197,205],"present":[190],"cells.":[194],"also":[198],"indication":[200],"these":[202],"nonmuscle":[203],"expressing":[206],"some":[207],"phenotypic":[210],"aspects":[211],"genetic":[214],"defect":[215],"DMD.":[217],"Cultured":[218],"may":[222],"therefore":[223],"useful":[226],"cellular":[227],"model":[228],"research.":[231]},"counts_by_year":[{"year":2019,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
