{"id":"https://openalex.org/W2921859596","doi":"https://doi.org/10.1016/j.ymgme.2019.03.003","title":"Dysregulated DNA methylation of GLA gene was associated with dysfunction of autophagy","display_name":"Dysregulated DNA methylation of GLA gene was associated with dysfunction of autophagy","publication_year":2019,"publication_date":"2019-03-07","ids":{"openalex":"https://openalex.org/W2921859596","doi":"https://doi.org/10.1016/j.ymgme.2019.03.003","mag":"2921859596","pmid":"https://pubmed.ncbi.nlm.nih.gov/30871880"},"language":"en","primary_location":{"id":"doi:10.1016/j.ymgme.2019.03.003","doi":"https://doi.org/10.1016/j.ymgme.2019.03.003","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2019.03.003","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5015523811","display_name":"Hiroko Yanagisawa","orcid":"https://orcid.org/0000-0002-6917-5218","observed_orcids":["https://orcid.org/0000-0002-6917-5218"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Hiroko Yanagisawa","raw_affiliation_strings":["Advanced Clinical Research Center, Institute for Neurological Disorders, Kawasaki, Japan. Electronic address: hiro-yanagisawa@jikei.ac.jp","Advanced Clinical Research Center, Institute for Neurological Disorders, Kawasaki, Japan"],"raw_orcid":"https://orcid.org/0000-0002-6917-5218","affiliations":[{"raw_affiliation_string":"Advanced Clinical Research Center, Institute for Neurological Disorders, Kawasaki, Japan. Electronic address: hiro-yanagisawa@jikei.ac.jp","institution_ids":[]},{"raw_affiliation_string":"Advanced Clinical Research Center, Institute for Neurological Disorders, Kawasaki, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004677156","display_name":"Mohammad Arif Hossain","orcid":"https://orcid.org/0000-0002-6598-7403","observed_orcids":["https://orcid.org/0000-0002-6598-7403"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mohammad Arif Hossain","raw_affiliation_strings":["Advanced Clinical Research Center, Institute for Neurological Disorders, Kawasaki, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Advanced Clinical Research Center, Institute for Neurological Disorders, Kawasaki, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048071002","display_name":"Takashi Miyajima","orcid":"https://orcid.org/0000-0002-2125-8401","observed_orcids":["https://orcid.org/0000-0002-2125-8401"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Takashi Miyajima","raw_affiliation_strings":["Advanced Clinical Research Center, Institute for Neurological Disorders, Kawasaki, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Advanced Clinical Research Center, Institute for Neurological Disorders, Kawasaki, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109113432","display_name":"Kazuaki Nagao","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I64189623","display_name":"Kitasato University","ror":"https://ror.org/00f2txz25","country_code":"JP","type":"education","lineage":["https://openalex.org/I64189623"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kazuaki Nagao","raw_affiliation_strings":["Department of Molecular Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan","institution_ids":["https://openalex.org/I64189623"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033689092","display_name":"Toshiyuki Miyashita","orcid":"https://orcid.org/0000-0002-0929-4629","observed_orcids":["https://orcid.org/0000-0002-0929-4629"]},"institutions":[{"id":"https://openalex.org/I64189623","display_name":"Kitasato University","ror":"https://ror.org/00f2txz25","country_code":"JP","type":"education","lineage":["https://openalex.org/I64189623"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Toshiyuki Miyashita","raw_affiliation_strings":["Department of Molecular Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan","institution_ids":["https://openalex.org/I64189623"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109869484","display_name":"Yoshikatsu Eto","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Yoshikatsu Eto","raw_affiliation_strings":["Advanced Clinical Research Center, Institute for Neurological Disorders, Kawasaki, Japan. Electronic address: yosh@sepia.ocn.ne.jp","Advanced Clinical Research Center, Institute for Neurological Disorders, Kawasaki, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Advanced Clinical Research Center, Institute for Neurological Disorders, Kawasaki, Japan. Electronic address: yosh@sepia.ocn.ne.jp","institution_ids":[]},{"raw_affiliation_string":"Advanced Clinical Research Center, Institute for Neurological Disorders, Kawasaki, Japan","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5015523811","https://openalex.org/A5109869484"],"corresponding_institution_ids":[],"apc_list":{"value":2950,"currency":"USD","value_usd":2950},"apc_paid":null,"fwci":2.5441,"has_fulltext":false,"cited_by_count":19,"citation_normalized_percentile":{"value":0.88442363,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"126","issue":"4","first_page":"460","last_page":"465"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9984999895095825,"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":0.9984999895095825,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":9.999999747378752e-05,"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/fabry-disease","display_name":"Fabry disease","score":0.9449999928474426},{"id":"https://openalex.org/keywords/gla-gene","display_name":"GLA gene","score":0.9779999852180481},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.9800000190734863},{"id":"https://openalex.org/keywords/autophagy-dysfunction","display_name":"autophagy dysfunction","score":0.8889999985694885},{"id":"https://openalex.org/keywords/autophagic-flux","display_name":"autophagic flux","score":0.8949999809265137},{"id":"https://openalex.org/keywords/lysosomes","display_name":"lysosomes","score":0.7049999833106995},{"id":"https://openalex.org/keywords/p62","display_name":"p62","score":0.8379999995231628},{"id":"https://openalex.org/keywords/x-linked-inheritance","display_name":"X-linked inheritance","score":0.6079999804496765},{"id":"https://openalex.org/keywords/female-patients","display_name":"female patients","score":0.6919999718666077},{"id":"https://openalex.org/keywords/disease-severity","display_name":"disease severity","score":0.8159999847412109},{"id":"https://openalex.org/keywords/allele-specific-pcr","display_name":"allele-specific PCR","score":0.8830000162124634},{"id":"https://openalex.org/keywords/fibroblasts","display_name":"fibroblasts","score":0.609000027179718},{"id":"https://openalex.org/keywords/lysosome-morphology","display_name":"lysosome morphology","score":0.4970000088214874}],"concepts":[{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.8431147336959839},{"id":"https://openalex.org/C203522944","wikidata":"https://www.wikidata.org/wiki/Q288322","display_name":"Autophagy","level":3,"score":0.811692476272583},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.6041222810745239},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5993033051490784},{"id":"https://openalex.org/C33288867","wikidata":"https://www.wikidata.org/wiki/Q518328","display_name":"Methylation","level":3,"score":0.5367122292518616},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5258391499519348},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5013916492462158},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.4841323792934418},{"id":"https://openalex.org/C2780216420","wikidata":"https://www.wikidata.org/wiki/Q83330","display_name":"Lysosome","level":3,"score":0.4700447618961334},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.448402464389801},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.34823593497276306},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.25524428486824036},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.08593922853469849},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.05517038702964783},{"id":"https://openalex.org/C190283241","wikidata":"https://www.wikidata.org/wiki/Q14599311","display_name":"Apoptosis","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000519","descriptor_name":"alpha-Galactosidase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000795","descriptor_name":"Fabry Disease","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D000795","descriptor_name":"Fabry Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001343","descriptor_name":"Autophagy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D008247","descriptor_name":"Lysosomes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","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":"D011379","descriptor_name":"Prognosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019175","descriptor_name":"DNA Methylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D035781","descriptor_name":"Siblings","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.ymgme.2019.03.003","doi":"https://doi.org/10.1016/j.ymgme.2019.03.003","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2019.03.003","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"},{"id":"pmid:30871880","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30871880","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":"Molecular genetics and metabolism","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"study_designs":[],"awards":[{"id":"https://openalex.org/G6157508441","display_name":"Generating a cancer model using CRISPR/Cas9 system","funder_award_id":"18K07205","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G8391816110","display_name":"Investigation of molecular pathogenesis of nevoid basal cell carcinoma syndrome using disease-specific and gene-edited iPSCs","funder_award_id":"17K10061","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"}],"funders":[{"id":"https://openalex.org/F4320324809","display_name":"Jikei University School of Medicine","ror":"https://ror.org/039ygjf22"},{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":27,"referenced_works":["https://openalex.org/W1934932849","https://openalex.org/W1965992082","https://openalex.org/W1969883059","https://openalex.org/W1986277038","https://openalex.org/W1990138203","https://openalex.org/W2009023811","https://openalex.org/W2025665129","https://openalex.org/W2029146706","https://openalex.org/W2079822589","https://openalex.org/W2086197089","https://openalex.org/W2095706874","https://openalex.org/W2099007146","https://openalex.org/W2122573744","https://openalex.org/W2128366873","https://openalex.org/W2152545043","https://openalex.org/W2257637313","https://openalex.org/W2260435620","https://openalex.org/W2521741120","https://openalex.org/W2571134803","https://openalex.org/W2587340559","https://openalex.org/W2594322138","https://openalex.org/W2768737926","https://openalex.org/W2785429866","https://openalex.org/W2793160625","https://openalex.org/W3209992856","https://openalex.org/W4211088838","https://openalex.org/W4238656497"],"related_works":["https://openalex.org/W2912159333","https://openalex.org/W2962681102","https://openalex.org/W2791137603","https://openalex.org/W3127082054","https://openalex.org/W4297094031","https://openalex.org/W2571134803","https://openalex.org/W4392360470","https://openalex.org/W2086197089","https://openalex.org/W4304588656","https://openalex.org/W2584357699"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":3}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2019-03-22T00:00:00"}
