{"id":"https://openalex.org/W2139761238","doi":"https://doi.org/10.1002/humu.22622","title":"Functional Analyses of Mutations inHEPACAMCausing Megalencephalic Leukoencephalopathy","display_name":"Functional Analyses of Mutations inHEPACAMCausing Megalencephalic Leukoencephalopathy","publication_year":2014,"publication_date":"2014-07-18","ids":{"openalex":"https://openalex.org/W2139761238","doi":"https://doi.org/10.1002/humu.22622","mag":"2139761238","pmid":"https://pubmed.ncbi.nlm.nih.gov/25044933"},"language":"en","primary_location":{"id":"doi:10.1002/humu.22622","doi":"https://doi.org/10.1002/humu.22622","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.22622","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.22622","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.22622","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5084305260","display_name":"Tanit Arnedo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Tanit Arnedo","raw_affiliation_strings":["Secci\u00f3n de Fisiolog\u00eda, Departamento de Ciencias Fisiol\u00f3gicas II; University of Barcelona; Barcelona Spain","U-750; Centro de Investigaci\u00f3n en red de enfermedades raras (CIBERER), ISCIII; Barcelona Spain","These authors contributed equally to this study"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Secci\u00f3n de Fisiolog\u00eda, Departamento de Ciencias Fisiol\u00f3gicas II; University of Barcelona; Barcelona Spain","institution_ids":["https://openalex.org/I71999127"]},{"raw_affiliation_string":"U-750; Centro de Investigaci\u00f3n en red de enfermedades raras (CIBERER), ISCIII; Barcelona Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366"]},{"raw_affiliation_string":"These authors contributed equally to this study","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052695271","display_name":"Tania L\u00f3pez-Hern\u00e1ndez","orcid":"https://orcid.org/0000-0002-0814-2850","observed_orcids":["https://orcid.org/0000-0002-0814-2850"]},"institutions":[{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Tania L\u00f3pez-Hern\u00e1ndez","raw_affiliation_strings":["Secci\u00f3n de Fisiolog\u00eda, Departamento de Ciencias Fisiol\u00f3gicas II; University of Barcelona; Barcelona Spain","These authors contributed equally to this study"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Secci\u00f3n de Fisiolog\u00eda, Departamento de Ciencias Fisiol\u00f3gicas II; University of Barcelona; Barcelona Spain","institution_ids":["https://openalex.org/I71999127"]},{"raw_affiliation_string":"These authors contributed equally to this study","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010056871","display_name":"Elena Jeworutzki","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210155236","display_name":"National Research Council","ror":"https://ror.org/04zaypm56","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I4210155236"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Elena Jeworutzki","raw_affiliation_strings":["Istituto di Biofisica; Consiglio Nazionale delle Ricerche; Genoa 16149 Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Biofisica; Consiglio Nazionale delle Ricerche; Genoa 16149 Italy","institution_ids":["https://openalex.org/I4210155236"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029746908","display_name":"Xavier Capdevila\u2010Nortes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Xavier Capdevila-Nortes","raw_affiliation_strings":["Secci\u00f3n de Fisiolog\u00eda, Departamento de Ciencias Fisiol\u00f3gicas II; University of Barcelona; Barcelona Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Secci\u00f3n de Fisiolog\u00eda, Departamento de Ciencias Fisiol\u00f3gicas II; University of Barcelona; Barcelona Spain","institution_ids":["https://openalex.org/I71999127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071737090","display_name":"S\u00f2nia Sirisi","orcid":"https://orcid.org/0000-0002-5366-7832","observed_orcids":["https://orcid.org/0000-0002-5366-7832"]},"institutions":[{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"S\u00f2nia Sirisi","raw_affiliation_strings":["Secci\u00f3n de Fisiolog\u00eda, Departamento de Ciencias Fisiol\u00f3gicas II; University of Barcelona; Barcelona Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Secci\u00f3n de Fisiolog\u00eda, Departamento de Ciencias Fisiol\u00f3gicas II; University of Barcelona; Barcelona Spain","institution_ids":["https://openalex.org/I71999127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020262838","display_name":"Michael Pusch","orcid":"https://orcid.org/0000-0002-8644-8847","observed_orcids":["https://orcid.org/0000-0002-8644-8847"]},"institutions":[{"id":"https://openalex.org/I4210155236","display_name":"National Research Council","ror":"https://ror.org/04zaypm56","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I4210155236"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Michael Pusch","raw_affiliation_strings":["Istituto di Biofisica; Consiglio Nazionale delle Ricerche; Genoa 16149 Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Biofisica; Consiglio Nazionale delle Ricerche; Genoa 16149 Italy","institution_ids":["https://openalex.org/I4210155236"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5013084402","display_name":"Ra\u00fal Est\u00e9vez","orcid":"https://orcid.org/0000-0003-1579-650X","observed_orcids":["https://orcid.org/0000-0003-1579-650X"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Ra\u00fal Est\u00e9vez","raw_affiliation_strings":["Secci\u00f3n de Fisiolog\u00eda, Departamento de Ciencias Fisiol\u00f3gicas II; University of Barcelona; Barcelona Spain","U-750; Centro de Investigaci\u00f3n en red de enfermedades raras (CIBERER), ISCIII; Barcelona Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Secci\u00f3n de Fisiolog\u00eda, Departamento de Ciencias Fisiol\u00f3gicas II; University of Barcelona; Barcelona Spain","institution_ids":["https://openalex.org/I71999127"]},{"raw_affiliation_string":"U-750; Centro de Investigaci\u00f3n en red de enfermedades raras (CIBERER), ISCIII; Barcelona Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5013084402"],"corresponding_institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366","https://openalex.org/I71999127"],"apc_list":{"value":2740,"currency":"USD","value_usd":2740},"apc_paid":null,"fwci":1.5228,"has_fulltext":true,"cited_by_count":22,"citation_normalized_percentile":{"value":0.79985676,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"35","issue":"10","first_page":"1175","last_page":"1178"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.8589000105857849,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.8589000105857849,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10724","display_name":"Ion Transport and Channel Regulation","score":0.0203000009059906,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.01269999984651804,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical 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"}}],"keywords":[{"id":"https://openalex.org/keywords/hepacam","display_name":"hepaCAM","score":0.9800000190734863},{"id":"https://openalex.org/keywords/glialcam","display_name":"GlialCAM","score":0.9449999928474426},{"id":"https://openalex.org/keywords/megalencephalic-leukoencephalopathy-with-subcortical-cysts","display_name":"megalencephalic leukoencephalopathy with subcortical cysts","score":0.9490000009536743},{"id":"https://openalex.org/keywords/leukodystrophy","display_name":"leukodystrophy","score":0.9169999957084656},{"id":"https://openalex.org/keywords/white-matter-edema","display_name":"white matter edema","score":0.7639999985694885},{"id":"https://openalex.org/keywords/mutation-analysis","display_name":"mutation analysis","score":0.4129999876022339},{"id":"https://openalex.org/keywords/astrocytes","display_name":"astrocytes","score":0.7850000262260437},{"id":"https://openalex.org/keywords/cell-volume-regulation","display_name":"cell volume regulation","score":0.7749999761581421},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.6460000276565552},{"id":"https://openalex.org/keywords/pathogenesis","display_name":"pathogenesis","score":0.6610000133514404}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.9004572629928589},{"id":"https://openalex.org/C2778583010","wikidata":"https://www.wikidata.org/wiki/Q3237081","display_name":"Leukoencephalopathy","level":3,"score":0.5792170166969299},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5211025476455688},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.42288443446159363},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3663497269153595},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12855267524719238},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.08921903371810913},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.053396373987197876},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001253","descriptor_name":"Astrocytes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003560","descriptor_name":"Cysts","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003560","descriptor_name":"Cysts","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006367","descriptor_name":"HeLa Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018118","descriptor_name":"Chloride Channels","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018797","descriptor_name":"Cell Cycle Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020279","descriptor_name":"Hereditary Central Nervous System Demyelinating Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020279","descriptor_name":"Hereditary Central Nervous System Demyelinating Diseases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055786","descriptor_name":"Gene Knockout Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/humu.22622","doi":"https://doi.org/10.1002/humu.22622","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.22622","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.22622","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},{"id":"pmid:25044933","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25044933","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":"Human mutation","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1002/humu.22622","doi":"https://doi.org/10.1002/humu.22622","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.22622","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.22622","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.8199999928474426,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G6586565972","display_name":null,"funder_award_id":"ICREA Academia Prize 2009-2014","funder_id":"https://openalex.org/F4320322121","funder_display_name":"Instituci\u00f3 Catalana de Recerca i Estudis Avan\u00e7ats"}],"funders":[{"id":"https://openalex.org/F4320309746","display_name":"Compagnia di San Paolo","ror":"https://ror.org/00d1b1c41"},{"id":"https://openalex.org/F4320317617","display_name":"E-Rare","ror":null},{"id":"https://openalex.org/F4320322121","display_name":"Instituci\u00f3 Catalana de Recerca i Estudis Avan\u00e7ats","ror":"https://ror.org/0371hy230"},{"id":"https://openalex.org/F4320334923","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2139761238.pdf","grobid_xml":"https://content.openalex.org/works/W2139761238.grobid-xml"},"referenced_works_count":11,"referenced_works":["https://openalex.org/W1986767210","https://openalex.org/W1998809945","https://openalex.org/W2042698280","https://openalex.org/W2079026766","https://openalex.org/W2099295630","https://openalex.org/W2103269586","https://openalex.org/W2104736206","https://openalex.org/W2107607132","https://openalex.org/W2132325919","https://openalex.org/W2133204617","https://openalex.org/W6675685065"],"related_works":["https://openalex.org/W2132325919","https://openalex.org/W2474078930","https://openalex.org/W3121349040","https://openalex.org/W2084522245","https://openalex.org/W1982460156","https://openalex.org/W2414863395","https://openalex.org/W7204254216","https://openalex.org/W2103269586","https://openalex.org/W2107607132","https://openalex.org/W1999592585"],"abstract_inverted_index":{"Megalencephalic":[0],"leukoencephalopathy":[1],"with":[2,56,69,84],"subcortical":[3],"cysts":[4],"(MLC)":[5],"is":[6,49],"a":[7,85],"rare":[8],"type":[9,23,37,40],"of":[10,45,59,71,80,106],"leukodystrophy":[11],"characterized":[12],"by":[13,65],"white":[14],"matter":[15],"edema.":[16],"Autosomal-recessive":[17],"mutations":[18,29,73,95,107],"in":[19,30,75,98,108],"MLC1":[20,46],"cause":[21,35],"MLC":[22,36,120],"1,":[24],"and":[25,39,47,62,92,111],"autosomal-recessive":[26],"or":[27],"dominant":[28],"HEPACAM":[31,48,76],"(also":[32],"called":[33],"GLIALCAM)":[34],"2A":[38],"2B,":[41],"respectively.":[42],"The":[43],"role":[44],"unknown,":[50],"although":[51],"they":[52],"have":[53],"been":[54],"related":[55],"the":[57,72,104],"processes":[58],"cell-volume":[60],"regulation":[61],"potassium":[63],"siphoning":[64],"astrocytes.":[66],"Previous":[67],"studies":[68],"some":[70],"identified":[74,96],"showed":[77],"that":[78,117],"most":[79,94],"them":[81],"are":[82],"associated":[83],"trafficking":[86],"defect.":[87],"Here,":[88],"we":[89,112],"analyzed":[90],"biochemically":[91],"functionally":[93],"up-to-date":[97],"HEPACAM.":[99],"Our":[100],"results":[101],"allow":[102],"classifying":[103],"effect":[105],"different":[109,114],"subtypes":[110],"indicate":[113],"cellular":[115],"mechanisms":[116],"lead":[118],"to":[119],"pathogenesis.":[121]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":6}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
