{"id":"https://openalex.org/W2396936749","doi":null,"title":"[Molecular genetics of PINK1].","display_name":"[Molecular genetics of PINK1].","publication_year":2007,"publication_date":"2007-08-01","ids":{"openalex":"https://openalex.org/W2396936749","mag":"2396936749","pmid":"https://pubmed.ncbi.nlm.nih.gov/17713119"},"language":"ja","primary_location":{"id":"pmid:17713119","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17713119","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":"Brain and nerve = Shinkei kenkyu no shinpo","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5019216025","display_name":"Manabu Funayama","orcid":"https://orcid.org/0000-0002-7412-3631","observed_orcids":["https://orcid.org/0000-0002-7412-3631"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Manabu Funayama","raw_affiliation_strings":["Research Institute eases of Old Ages, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113 8421, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute eases of Old Ages, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113 8421, Japan","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5014705038","display_name":"Nobutaka Hattori","orcid":"https://orcid.org/0000-0002-2034-2556","observed_orcids":["https://orcid.org/0000-0002-2034-2556"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Nobutaka Hattori","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.38475054,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"59","issue":"8","first_page":"831","last_page":"8"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T13991","display_name":"Nuclear Receptors and Signaling","score":0.0003000000142492354,"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/T10919","display_name":"Deep Brain Stimulation and Movement Disorders","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/pink1","display_name":"PINK1","score":0.9990000128746033},{"id":"https://openalex.org/keywords/park6","display_name":"PARK6","score":0.609000027179718},{"id":"https://openalex.org/keywords/parkinson-s-disease","display_name":"Parkinson's disease","score":0.7200000286102295},{"id":"https://openalex.org/keywords/pink1-mutations","display_name":"PINK1 mutations","score":0.8029999732971191},{"id":"https://openalex.org/keywords/heterozygous-variants","display_name":"heterozygous mutation","score":0.7620000243186951},{"id":"https://openalex.org/keywords/mitochondrial-function","display_name":"mitochondrial function","score":0.640999972820282},{"id":"https://openalex.org/keywords/parkin","display_name":"Parkin","score":0.8930000066757202},{"id":"https://openalex.org/keywords/dj-1","display_name":"DJ-1","score":0.9950000047683716},{"id":"https://openalex.org/keywords/mpp-toxicity","display_name":"MPP+ toxicity","score":0.7509999871253967},{"id":"https://openalex.org/keywords/neuroprotection","display_name":"neuroprotection","score":0.8399999737739563}],"concepts":[{"id":"https://openalex.org/C2776804853","wikidata":"https://www.wikidata.org/wiki/Q18045837","display_name":"PINK1","level":5,"score":0.9670112133026123},{"id":"https://openalex.org/C2777668072","wikidata":"https://www.wikidata.org/wiki/Q2472777","display_name":"Parkin","level":4,"score":0.9217456579208374},{"id":"https://openalex.org/C2776525014","wikidata":"https://www.wikidata.org/wiki/Q1531991","display_name":"Parkinsonism","level":3,"score":0.7958081364631653},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5791819095611572},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5326893329620361},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5201326012611389},{"id":"https://openalex.org/C2779734285","wikidata":"https://www.wikidata.org/wiki/Q11085","display_name":"Parkinson's disease","level":3,"score":0.33431902527809143},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.16248705983161926},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.14875778555870056},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.10022297501564026},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.06325221061706543}],"mesh":[{"descriptor_ui":"D000071617","descriptor_name":"Protein Deglycase DJ-1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000099202","descriptor_name":"PTEN-Induced Putative Kinase","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","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":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011494","descriptor_name":"Protein Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011494","descriptor_name":"Protein Kinases","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D015513","descriptor_name":"Oncogene Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044767","descriptor_name":"Ubiquitin-Protein Ligases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D047908","descriptor_name":"Intracellular Signaling Peptides and Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":1,"locations":[{"id":"pmid:17713119","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17713119","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":"Brain and nerve = Shinkei kenkyu no shinpo","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1972070850","https://openalex.org/W2025286194","https://openalex.org/W3209137682","https://openalex.org/W1987951773","https://openalex.org/W1585653696","https://openalex.org/W2136388422","https://openalex.org/W2127537811","https://openalex.org/W2020232401","https://openalex.org/W2142460292","https://openalex.org/W1985976993"],"abstract_inverted_index":{"PTEN-induced":[0],"putative":[1],"kinase":[2,53,82,89],"1":[3],"(PINK1)":[4],"is":[5,60,93,107,247],"a":[6,38,45,50,184,248],"causative":[7],"gene":[8],"for":[9,149,168,251],"autosomal":[10,69],"recessive":[11,70],"early":[12],"onset":[13],"parkinsonism.":[14,71,115,151],"Mutations":[15],"in":[16,21,135,207],"PINK1":[17,29,92,103,120,145,161,182,193,204],"were":[18,76],"identified":[19,124],"originally":[20],"PARK6-linked":[22],"parkinsonism":[23,59,106],"families":[24],"from":[25,210],"Italy":[26],"and":[27,36,49,172,181,191,205],"Spain.":[28],"contains":[30],"8":[31],"exons":[32],"spanning":[33],"1.8":[34],"kb,":[35],"encodes":[37],"protein":[39,52,81,162],"of":[40,73,86,88,91,102,111,119,132,144,196,200,203,255,264],"581":[41],"amino":[42],"acids":[43],"with":[44,213],"mitochondrial":[46,189,239],"targeting":[47],"motif":[48],"serine-threonine":[51,80],"domain.":[54,83],"Until":[55],"now":[56],"PINK1-mutation":[57],"positive":[58,105,114],"the":[61,79,94,242,245,253],"second":[62],"frequent":[63],"one":[64,211],"next":[65],"to":[66,109,187,218,237],"parkin":[67,112],"among":[68],"Most":[72],"reported":[74],"mutations":[75,118,143,202],"distributed":[77],"throughout":[78],"Thus,":[84],"loss":[85],"function":[87,164,190],"activity":[90],"most":[95],"probable":[96],"disease":[97,127],"mechanism.":[98],"The":[99,130],"clinical":[100],"phenotype":[101],"-mutation":[104],"similar":[108],"that":[110,140,160,179,192,227],"mutation":[113,137],"Single":[116],"heterozygous":[117,142,214],"have":[121,157],"been":[122,158],"also":[123,261],"sporadic":[125,258],"Parkinson's":[126],"(PD)":[128],"patients.":[129],"presence":[131],"dopamine":[133],"hypometabolism":[134],"asymptomatic":[136],"carriers":[138],"suggests":[139],"single":[141],"are":[146],"risk":[147],"factors":[148],"developing":[150],"In":[152,241],"addition,":[153],"some":[154],"functional":[155],"data":[156,225],"shown":[159],"may":[163],"as":[165],"neuroprotective":[166],"roles":[167],"mitochondria.":[169],"Recent":[170],"biochemical":[171],"morphological":[173],"studies":[174],"using":[175],"drosophila":[176],"melanogaster":[177],"suggested":[178],"Parkin":[180],"share":[183],"common":[185],"pathway":[186],"maintain":[188,238],"functions":[194],"upstream":[195],"Parkin.":[197],"Moreover,":[198],"co-expression":[199],"double":[201],"DJ-1":[206,231],"cultured":[208],"cells":[209],"family":[212],"mutations,":[215],"enhanced":[216],"susceptibility":[217],"MPP+":[219],"(1-methyl-4-phenylpyridinium":[220],"ion)-induced":[221],"cell":[222],"death.":[223],"These":[224],"suggest":[226],"PINK1,":[228],"parkin,":[229],"and/or":[230],"could":[232],"play":[233],"an":[234],"important":[235],"role":[236],"functions.":[240],"other":[243],"word,":[244],"mitochondrion":[246],"good":[249],"target":[250],"elucidating":[252],"pathogenesis":[254],"not":[256],"only":[257],"form":[259,263],"but":[260],"monogenic":[262],"PD.":[265]},"counts_by_year":[{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
