{"id":"https://openalex.org/W2100103422","doi":"https://doi.org/10.1093/hmg/ddh162","title":"Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release","display_name":"Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release","publication_year":2004,"publication_date":"2004-05-05","ids":{"openalex":"https://openalex.org/W2100103422","doi":"https://doi.org/10.1093/hmg/ddh162","mag":"2100103422","pmid":"https://pubmed.ncbi.nlm.nih.gov/15163634"},"language":"en","primary_location":{"id":"doi:10.1093/hmg/ddh162","doi":"https://doi.org/10.1093/hmg/ddh162","is_oa":false,"landing_page_url":"https://doi.org/10.1093/hmg/ddh162","pdf_url":null,"source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","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/A5006495394","display_name":"Yeun Su Choo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Y. S. Choo","raw_affiliation_strings":["Department of Psychiatry, University of Alabama at Birmingham, 35294, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, University of Alabama at Birmingham, 35294, USA","institution_ids":["https://openalex.org/I32389192"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5006495394"],"corresponding_institution_ids":["https://openalex.org/I32389192"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":null,"fwci":8.3659,"has_fulltext":true,"cited_by_count":529,"citation_normalized_percentile":{"value":0.98977763,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"13","issue":"14","first_page":"1407","last_page":"1420"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9185000061988831,"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9185000061988831,"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/T10301","display_name":"Mitochondrial Function and Pathology","score":0.0714000016450882,"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/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.0005000000237487257,"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/mutant-huntingtin","display_name":"mutant huntingtin","score":0.8629999756813049},{"id":"https://openalex.org/keywords/huntington-s-disease","display_name":"Huntington's disease","score":0.9929999709129333},{"id":"https://openalex.org/keywords/mitochondrial-permeability-transition","display_name":"mitochondrial permeability transition","score":0.9430000185966492},{"id":"https://openalex.org/keywords/cytochrome-c-release","display_name":"cytochrome c release","score":0.9819999933242798},{"id":"https://openalex.org/keywords/cyclosporine","display_name":"cyclosporine","score":0.8529999852180481},{"id":"https://openalex.org/keywords/outer-mitochondrial-membrane","display_name":"mitochondrial outer membrane","score":0.7730000019073486},{"id":"https://openalex.org/keywords/polyglutamine-expansion","display_name":"polyglutamine expansion","score":0.8889999985694885},{"id":"https://openalex.org/keywords/striatal-neurons","display_name":"striatal neurons","score":0.6930000185966492}],"concepts":[{"id":"https://openalex.org/C2781427258","wikidata":"https://www.wikidata.org/wiki/Q2620886","display_name":"Huntingtin","level":4,"score":0.9461109042167664},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7976011633872986},{"id":"https://openalex.org/C28859421","wikidata":"https://www.wikidata.org/wiki/Q39572","display_name":"Mitochondrion","level":2,"score":0.7093949913978577},{"id":"https://openalex.org/C2910011555","wikidata":"https://www.wikidata.org/wiki/Q2620886","display_name":"Huntingtin Protein","level":5,"score":0.6972377896308899},{"id":"https://openalex.org/C13591479","wikidata":"https://www.wikidata.org/wiki/Q6881880","display_name":"Mitochondrial permeability transition pore","level":4,"score":0.649294376373291},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.6230068802833557},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5212574601173401},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.48257461190223694},{"id":"https://openalex.org/C2779926675","wikidata":"https://www.wikidata.org/wiki/Q6943700","display_name":"Mutant protein","level":4,"score":0.48177048563957214},{"id":"https://openalex.org/C207583985","wikidata":"https://www.wikidata.org/wiki/Q128723","display_name":"Wild type","level":4,"score":0.42404043674468994},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.35443609952926636},{"id":"https://openalex.org/C31573885","wikidata":"https://www.wikidata.org/wiki/Q304484","display_name":"Programmed cell death","level":3,"score":0.14197993278503418},{"id":"https://openalex.org/C190283241","wikidata":"https://www.wikidata.org/wiki/Q14599311","display_name":"Apoptosis","level":2,"score":0.10684826970100403},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09493997693061829}],"mesh":[{"descriptor_ui":"D000071058","descriptor_name":"Huntingtin Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000083162","descriptor_name":"Mitochondrial Permeability Transition Pore","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000255","descriptor_name":"Adenosine Triphosphate","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002118","descriptor_name":"Calcium","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","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":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007425","descriptor_name":"Intracellular Membranes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D007473","descriptor_name":"Ion Channels","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D008930","descriptor_name":"Mitochondria, Liver","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D009687","descriptor_name":"Nuclear Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009687","descriptor_name":"Nuclear Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D011994","descriptor_name":"Recombinant Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D016572","descriptor_name":"Cyclosporine","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D033681","descriptor_name":"Mitochondrial Membrane Transport Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D045304","descriptor_name":"Cytochromes c","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D050486","descriptor_name":"Serotonin Plasma Membrane Transport Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D050486","descriptor_name":"Serotonin Plasma Membrane Transport Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1093/hmg/ddh162","doi":"https://doi.org/10.1093/hmg/ddh162","is_oa":false,"landing_page_url":"https://doi.org/10.1093/hmg/ddh162","pdf_url":null,"source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},{"id":"pmid:15163634","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15163634","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 molecular genetics","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.821.4010","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.821.4010","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"https://hmg.oxfordjournals.org/content/13/14/1407.full.pdf","raw_type":"text"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.821.4658","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.821.4658","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"https://hmg.oxfordjournals.org/content/early/2004/05/26/hmg.ddh162.full.pdf","raw_type":"text"},{"id":"pmh:oai:open-archive.highwire.org:hmg:13/14/1407","doi":null,"is_oa":false,"landing_page_url":"http://hmg.oxfordjournals.org/cgi/content/short/13/14/1407","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"TEXT"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1665809438","display_name":"TISSUE TRANSGLUTAMINASE: A ROLE IN HUNTINGTON'S DISEASE","funder_award_id":"R01NS041552","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G2316715470","display_name":"Mutant Huntingtin Compromises Mitochondrial Function","funder_award_id":"R01NS041744","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G7090107126","display_name":"Delineating the Huntington's disease mechanism by manipulating the mouse HD","funder_award_id":"R01NS032765","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"}],"funders":[{"id":"https://openalex.org/F4320306725","display_name":"Hereditary Disease Foundation","ror":"https://ror.org/02a3w7r50"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":55,"referenced_works":["https://openalex.org/W14527431","https://openalex.org/W1503628016","https://openalex.org/W1550247880","https://openalex.org/W1558103114","https://openalex.org/W1565788467","https://openalex.org/W1603109630","https://openalex.org/W1643390591","https://openalex.org/W1940885739","https://openalex.org/W1968112618","https://openalex.org/W1972353515","https://openalex.org/W1972771185","https://openalex.org/W1978791657","https://openalex.org/W1983068706","https://openalex.org/W1996457403","https://openalex.org/W1996592124","https://openalex.org/W2008422990","https://openalex.org/W2011796077","https://openalex.org/W2013319326","https://openalex.org/W2017140295","https://openalex.org/W2020220420","https://openalex.org/W2029918421","https://openalex.org/W2030410903","https://openalex.org/W2032105133","https://openalex.org/W2037562033","https://openalex.org/W2039422369","https://openalex.org/W2042584010","https://openalex.org/W2044695362","https://openalex.org/W2048713258","https://openalex.org/W2053509579","https://openalex.org/W2054989425","https://openalex.org/W2058176457","https://openalex.org/W2069389331","https://openalex.org/W2079718442","https://openalex.org/W2082056883","https://openalex.org/W2082501455","https://openalex.org/W2094103307","https://openalex.org/W2099685145","https://openalex.org/W2102297909","https://openalex.org/W2102430316","https://openalex.org/W2113149589","https://openalex.org/W2113999599","https://openalex.org/W2114521612","https://openalex.org/W2116449089","https://openalex.org/W2121642311","https://openalex.org/W2123762857","https://openalex.org/W2132082381","https://openalex.org/W2133589330","https://openalex.org/W2135783352","https://openalex.org/W2142125979","https://openalex.org/W2142716581","https://openalex.org/W2162339143","https://openalex.org/W2168133967","https://openalex.org/W2171154502","https://openalex.org/W2375789277","https://openalex.org/W4239172889"],"related_works":["https://openalex.org/W2159538843","https://openalex.org/W2521004562","https://openalex.org/W2014002213","https://openalex.org/W1972771185","https://openalex.org/W2004981183","https://openalex.org/W2924609776","https://openalex.org/W2967352768","https://openalex.org/W2027367467","https://openalex.org/W2065144533","https://openalex.org/W1920278102"],"abstract_inverted_index":{"Huntington's":[0],"disease":[1],"(HD)":[2],"is":[3],"initiated":[4],"by":[5,144,195,206],"an":[6,138,202,220],"abnormally":[7],"expanded":[8],"polyglutamine":[9],"stretch":[10],"in":[11,31,37,85,133,176],"the":[12,20,25,38,46,49,57,92,99,107,151,157,173,212,226],"huntingtin":[13,51,82,103,119,153,188],"protein,":[14,120],"conferring":[15],"a":[16,86,115,123,168,181,196],"novel":[17],"property":[18],"on":[19],"protein":[21,52,154],"that":[22,48,102,114,140,211],"leads":[23],"to":[24,161,172,224],"loss":[26],"of":[27,40,91,98,199,214,228],"striatal":[28,69],"neurons.":[29],"Defects":[30],"mitochondrial":[32,88,109,127],"function":[33],"have":[34,44],"been":[35],"implicated":[36],"pathogenesis":[39],"HD.":[41,229],"Here,":[42],"we":[43],"examined":[45],"hypothesis":[47],"mutant":[50,118,152,187],"may":[53,218],"directly":[54,125],"interact":[55],"with":[56,106],"mitochondrion":[58],"and":[59,67,75,94,148],"affect":[60],"its":[61],"function.":[62],"In":[63],"human":[64],"neuroblastoma":[65],"cells":[66,70],"clonal":[68],"established":[71],"from":[72,180],"HdhQ7":[73],"(wild-type)":[74],"HdhQ111":[76],"(mutant)":[77],"homozygote":[78],"mouse":[79,135,184],"knock-in":[80,182],"embryos,":[81],"was":[83,104,141,193],"present":[84],"purified":[87],"fraction.":[89],"Subfractionation":[90],"mitochondria":[93,178],"limited":[95],"trypsin":[96],"digestion":[97],"organelle":[100],"demonstrated":[101,113],"associated":[105],"outer":[108],"membrane.":[110],"We":[111,166],"further":[112],"recombinant":[116],"truncated":[117],"but":[121],"not":[122],"wild-type,":[124],"induced":[126],"permeability":[128],"transition":[129],"(MPT)":[130],"pore":[131,164,191],"opening":[132,192],"isolated":[134,179],"liver":[136,177],"mitochondria,":[137],"effect":[139,203],"prevented":[142],"completely":[143,204],"cyclosporin":[145],"A":[146],"(CSA)":[147],"ATP.":[149],"Importantly,":[150],"significantly":[155],"decreased":[156],"Ca2+":[158],"threshold":[159],"necessary":[160],"trigger":[162],"MPT":[163,175,190,216],"opening.":[165],"found":[167],"similar":[169],"increased":[170],"susceptibility":[171],"calcium-induced":[174],"HD":[183],"model.":[185],"The":[186],"protein-induced":[189],"accompanied":[194],"significant":[197],"release":[198],"cytochrome":[200],"c,":[201],"inhibited":[205],"CSA.":[207],"These":[208],"findings":[209],"suggest":[210],"development":[213],"specific":[215],"inhibitors":[217],"be":[219],"interesting":[221],"therapeutic":[222],"avenue":[223],"delay":[225],"onset":[227]},"counts_by_year":[{"year":2026,"cited_by_count":13},{"year":2025,"cited_by_count":16},{"year":2024,"cited_by_count":15},{"year":2023,"cited_by_count":24},{"year":2022,"cited_by_count":28},{"year":2021,"cited_by_count":34},{"year":2020,"cited_by_count":27},{"year":2019,"cited_by_count":22},{"year":2018,"cited_by_count":25},{"year":2017,"cited_by_count":21},{"year":2016,"cited_by_count":24},{"year":2015,"cited_by_count":23},{"year":2014,"cited_by_count":29},{"year":2013,"cited_by_count":18},{"year":2012,"cited_by_count":34}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}