{"id":"https://openalex.org/W3043462401","doi":null,"title":"An in vitro Model for Lysosomal Storage Diseases Using Aspartylglucosaminuria Patient Cells","display_name":"An in vitro Model for Lysosomal Storage Diseases Using Aspartylglucosaminuria Patient Cells","publication_year":2020,"publication_date":"2020-04-28","ids":{"openalex":"https://openalex.org/W3043462401","mag":"3043462401"},"language":"en","primary_location":{"id":"pmh:oai:utupub.fi:11111/11912","doi":null,"is_oa":true,"landing_page_url":"https://www.utupub.fi/handle/11111/11912","pdf_url":"https://www.utupub.fi/bitstreams/ef7331f6-d491-43e4-842e-6bd1689e226b/download","source":{"id":"https://openalex.org/S4306402470","display_name":"UTUPub (University of Turku)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I155660961","host_organization_name":"University of Turku","host_organization_lineage":["https://openalex.org/I155660961"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"https://www.utupub.fi/handle/10024/149915","raw_type":"fi=Pro gradu -tutkielma|en=Master's thesis|"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.utupub.fi/bitstreams/ef7331f6-d491-43e4-842e-6bd1689e226b/download","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033029708","display_name":"Maria Kjellman","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Maria Kjellman","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5033029708"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0008999999845400453,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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/T14415","display_name":"Biomedical Research and Pathophysiology","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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/aspartylglucosaminuria","display_name":"aspartylglucosaminuria","score":0.9739999771118164},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.9800000190734863},{"id":"https://openalex.org/keywords/aspartylglucosaminidase","display_name":"aspartylglucosaminidase","score":0.972000002861023},{"id":"https://openalex.org/keywords/in-vitro-disease-model","display_name":"in vitro disease model","score":0.9229999780654907},{"id":"https://openalex.org/keywords/patient-derived-cells","display_name":"patient-derived cells","score":0.718999981880188},{"id":"https://openalex.org/keywords/enzyme-activity","display_name":"enzyme activity","score":0.8230000138282776},{"id":"https://openalex.org/keywords/protein-misfolding","display_name":"protein misfolding","score":0.6029999852180481},{"id":"https://openalex.org/keywords/drug-development","display_name":"drug development","score":0.5210000276565552}],"concepts":[{"id":"https://openalex.org/C202751555","wikidata":"https://www.wikidata.org/wiki/Q221681","display_name":"In vitro","level":2,"score":0.6550981402397156},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.3703067898750305},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.3296603560447693},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.32764732837677},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.32288119196891785},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.32140904664993286},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.17608308792114258}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:utupub.fi:11111/11912","doi":null,"is_oa":true,"landing_page_url":"https://www.utupub.fi/handle/11111/11912","pdf_url":"https://www.utupub.fi/bitstreams/ef7331f6-d491-43e4-842e-6bd1689e226b/download","source":{"id":"https://openalex.org/S4306402470","display_name":"UTUPub (University of Turku)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I155660961","host_organization_name":"University of Turku","host_organization_lineage":["https://openalex.org/I155660961"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"https://www.utupub.fi/handle/10024/149915","raw_type":"fi=Pro gradu -tutkielma|en=Master's thesis|"},{"id":"pmh:oai:www.utupub.fi:10024/149915","doi":null,"is_oa":true,"landing_page_url":"https://www.utupub.fi/handle/10024/149915","pdf_url":"https://www.utupub.fi/handle/10024/149915","source":{"id":"https://openalex.org/S4306402470","display_name":"UTUPub (University of Turku)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I155660961","host_organization_name":"University of Turku","host_organization_lineage":["https://openalex.org/I155660961"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"fi=Pro gradu -tutkielma|en=Master's thesis|"},{"id":"mag:3043462401","doi":null,"is_oa":false,"landing_page_url":"https://www.utupub.fi/bitstream/10024/149915/1/Kjellman_Maria_Thesis.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:utupub.fi:11111/11912","doi":null,"is_oa":true,"landing_page_url":"https://www.utupub.fi/handle/11111/11912","pdf_url":"https://www.utupub.fi/bitstreams/ef7331f6-d491-43e4-842e-6bd1689e226b/download","source":{"id":"https://openalex.org/S4306402470","display_name":"UTUPub (University of Turku)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I155660961","host_organization_name":"University of Turku","host_organization_lineage":["https://openalex.org/I155660961"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"https://www.utupub.fi/handle/10024/149915","raw_type":"fi=Pro gradu -tutkielma|en=Master's thesis|"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9476000070571899}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3043462401.pdf","grobid_xml":"https://content.openalex.org/works/W3043462401.grobid-xml"},"referenced_works_count":99,"referenced_works":["https://openalex.org/W1969438","https://openalex.org/W336838118","https://openalex.org/W1205458192","https://openalex.org/W1489420155","https://openalex.org/W1491957044","https://openalex.org/W1502576134","https://openalex.org/W1786920819","https://openalex.org/W1807269668","https://openalex.org/W1820329462","https://openalex.org/W1953311373","https://openalex.org/W1970707895","https://openalex.org/W1973368914","https://openalex.org/W1975155714","https://openalex.org/W1975200363","https://openalex.org/W1979117383","https://openalex.org/W1982665383","https://openalex.org/W1986397685","https://openalex.org/W1988148891","https://openalex.org/W1988619763","https://openalex.org/W1992900472","https://openalex.org/W1994519378","https://openalex.org/W2000151821","https://openalex.org/W2007055364","https://openalex.org/W2007985041","https://openalex.org/W2008320422","https://openalex.org/W2010211837","https://openalex.org/W2014753621","https://openalex.org/W2022884184","https://openalex.org/W2025665129","https://openalex.org/W2026584056","https://openalex.org/W2027483154","https://openalex.org/W2033064271","https://openalex.org/W2035248296","https://openalex.org/W2035950274","https://openalex.org/W2037808267","https://openalex.org/W2039326938","https://openalex.org/W2046250764","https://openalex.org/W2051817171","https://openalex.org/W2056084922","https://openalex.org/W2056283979","https://openalex.org/W2061701043","https://openalex.org/W2069274491","https://openalex.org/W2070658923","https://openalex.org/W2073679788","https://openalex.org/W2074975202","https://openalex.org/W2077499130","https://openalex.org/W2079133058","https://openalex.org/W2080767443","https://openalex.org/W2080878773","https://openalex.org/W2082367371","https://openalex.org/W2093722439","https://openalex.org/W2095967575","https://openalex.org/W2102696072","https://openalex.org/W2108175824","https://openalex.org/W2109030722","https://openalex.org/W2109716633","https://openalex.org/W2110676385","https://openalex.org/W2111567059","https://openalex.org/W2112939526","https://openalex.org/W2113698463","https://openalex.org/W2114899816","https://openalex.org/W2116399656","https://openalex.org/W2116505693","https://openalex.org/W2121990753","https://openalex.org/W2131824360","https://openalex.org/W2138432086","https://openalex.org/W2139826283","https://openalex.org/W2142142736","https://openalex.org/W2152560106","https://openalex.org/W2153824991","https://openalex.org/W2156575806","https://openalex.org/W2159256868","https://openalex.org/W2167364588","https://openalex.org/W2170106154","https://openalex.org/W2273608817","https://openalex.org/W2413214643","https://openalex.org/W2519937269","https://openalex.org/W2549115067","https://openalex.org/W2611970758","https://openalex.org/W2748821417","https://openalex.org/W2762273017","https://openalex.org/W2766473034","https://openalex.org/W2769960654","https://openalex.org/W2773161660","https://openalex.org/W2801181686","https://openalex.org/W2802753913","https://openalex.org/W2811383389","https://openalex.org/W2886448705","https://openalex.org/W2905232298","https://openalex.org/W2917016182","https://openalex.org/W2934913364","https://openalex.org/W2967287436","https://openalex.org/W3000531910","https://openalex.org/W3003990661","https://openalex.org/W3007957779","https://openalex.org/W3008649916","https://openalex.org/W3096269847","https://openalex.org/W3097370995","https://openalex.org/W4299297499"],"related_works":["https://openalex.org/W317676313","https://openalex.org/W3097370995","https://openalex.org/W7095808263","https://openalex.org/W2156575806","https://openalex.org/W1988148891","https://openalex.org/W1807269668","https://openalex.org/W2029256991","https://openalex.org/W1982665383","https://openalex.org/W2007981666","https://openalex.org/W2115976738"],"abstract_inverted_index":{"BACKGROUND":[0],"Lysosomes":[1],"are":[2,16,96],"acidic":[3],"organelles":[4],"responsible":[5,22],"for":[6,23,125,237,246],"recycling":[7,25],"of":[8,45,64,108,119,187,191],"metabolic":[9],"byproducts":[10],"and":[11,14,81,88,139,142,153,160,180,224,239],"cellular":[12,73],"debris,":[13],"there":[15,95],"approximately":[17],"60":[18],"enzymes":[19,28],"within":[20],"lysosomes":[21],"the":[24,65,72,172,181,188,218],"process.":[26],"These":[27],"can":[29],"be":[30,222],"malfunctional":[31],"due":[32],"to":[33,112,121,177],"genetic":[34],"mutations,":[35],"which":[36,59],"results":[37,60],"in":[38,61,75,116,171,193,206,234],"a":[39,62,114,240],"lysosomal":[40],"storage":[41],"disease":[42],"(LSD).":[43],"One":[44],"these":[46,231],"diseases":[47],"is":[48,243],"aspartylglucosaminuria":[49],"(AGU)":[50],"caused":[51],"by":[52],"an":[53,85,136,140,233],"incorrectly":[54],"folded":[55],"aspartylglucosaminidase":[56],"(AGA)":[57],"enzyme,":[58],"buildup":[63],"substrate":[66],"aspartylglucosamine.":[67],"This":[68],"enzymatic":[69],"deficiency":[70],"impairs":[71],"function":[74],"both":[76],"central":[77],"nervous":[78],"system":[79],"(CNS)":[80],"periphery":[82],"manifesting":[83],"as":[84],"impaired":[86],"physical":[87],"mental":[89],"development.":[90],"UNMET":[91],"MEDICAL":[92],"NEED":[93],"Currently,":[94],"no":[97],"curative":[98],"or":[99],"even":[100],"symptom":[101],"alleviating":[102],"treatments":[103],"available.":[104],"AIM":[105],"The":[106,164],"aim":[107],"this":[109,199],"research":[110],"was":[111,203],"establish":[113],"reliable":[115],"vitro":[117,235],"model":[118],"LSD":[120],"enable":[122],"repeatable":[123],"experiments":[124],"drug":[126],"development":[127],"purposes.":[128],"MATERIALS":[129],"AND":[130],"METHODS":[131],"Two":[132],"cell":[133],"types":[134],"from":[135],"AGU":[137,178,194,207,212,238],"patient":[138],"age-":[141],"gender":[143],"matched":[144],"healthy":[145,173,241],"individual":[146],"were":[147,214],"characterized.":[148],"Characterization":[149],"included":[150],"enzyme":[151,219],"activity":[152,170,220],"aspartylglucosamine":[154,201,225],"concentration":[155,202,226],"measurements,":[156,232],"Western":[157],"Blot":[158],"studies":[159],"immunofluorescent":[161],"stainings.":[162],"RESULTS":[163],"study":[165],"showed":[166],"significantly":[167,204],"higher":[168,205],"AGA":[169,192],"cells":[174,213],"when":[175,211],"compared":[176],"cells,":[179],"protein":[182],"expression":[183],"analysis":[184],"revealed":[185],"more":[186],"precursor":[189],"form":[190],"cells.":[195,208],"In":[196,209],"line":[197],"with":[198,216],"finding,":[200],"addition,":[210],"treated":[215],"AGA,":[217],"could":[221],"replenished":[223],"normalized.":[227],"CONCLUSION":[228],"Based":[229],"on":[230],"baseline":[236],"control":[242],"now":[244],"established":[245],"future":[247],"studies.":[248]},"counts_by_year":[],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2020-07-23T00:00:00"}