{"id":"https://openalex.org/W1562396900","doi":null,"title":"Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.","display_name":"Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.","publication_year":1996,"publication_date":"1996-09-01","ids":{"openalex":"https://openalex.org/W1562396900","mag":"1562396900","pmid":"https://pubmed.ncbi.nlm.nih.gov/8751852","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1914926"},"language":"en","primary_location":{"id":"pmid:8751852","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8751852","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":"American journal of human genetics","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1914926/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5053893647","display_name":"Sacha Kassovska\u2010Bratinova","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802351361","display_name":"Centre Hospitalier Universitaire Sainte-Justine","ror":"https://ror.org/01gv74p78","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I2802351361","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"S Kassovska-Bratinova","raw_affiliation_strings":["Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Sainte-Justine, Montr\u00e9al, Qu\u00e9bec, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Sainte-Justine, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I2802351361"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014936646","display_name":"Toshiyuki Fukao","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"T Fukao","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109932560","display_name":"Xiujuan Song","orcid":"https://orcid.org/0009-0000-0420-9344","observed_orcids":["https://orcid.org/0009-0000-0420-9344"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"X Q Song","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113974406","display_name":"Alessandra M.V. Duncan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A M Duncan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007675489","display_name":"H S Chen","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H S Chen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111089908","display_name":"M.F. Robert","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M F Robert","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070729416","display_name":"Celia P\u00e9rez\u2010Cerd\u00e1","orcid":"https://orcid.org/0000-0001-9976-1691","observed_orcids":["https://orcid.org/0000-0001-9976-1691"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C P\u00e9rez-Cerd\u00e1","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073454124","display_name":"Magdalena Ugarte","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Ugarte","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050300646","display_name":"C Chartrand","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C Chartrand","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028361777","display_name":"SUZANNE J. VOBECKY","orcid":"https://orcid.org/0000-0001-5592-6896","observed_orcids":["https://orcid.org/0000-0001-5592-6896"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S Vobecky","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025717497","display_name":"Naoyuki Kondo","orcid":"https://orcid.org/0000-0002-6624-5989","observed_orcids":["https://orcid.org/0000-0002-6624-5989"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"N Kondo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5049088657","display_name":"Grant A. Mitchell","orcid":"https://orcid.org/0000-0002-0804-3676","observed_orcids":["https://orcid.org/0000-0002-0804-3676"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G A Mitchell","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":1.2893,"has_fulltext":false,"cited_by_count":59,"citation_normalized_percentile":{"value":0.77399381,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":98},"biblio":{"volume":"59","issue":"3","first_page":"519","last_page":"28"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9990000128746033,"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"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9990000128746033,"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"}},{"id":"https://openalex.org/T12267","display_name":"Diet and metabolism studies","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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":9.999999747378752e-05,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/cdna-cloning","display_name":"cDNA cloning","score":0.7710000276565552},{"id":"https://openalex.org/keywords/chromosome-mapping","display_name":"chromosome mapping","score":0.824999988079071},{"id":"https://openalex.org/keywords/ketoacidosis","display_name":"ketoacidosis","score":0.7459999918937683},{"id":"https://openalex.org/keywords/ketolysis","display_name":"ketolysis","score":0.8740000128746033},{"id":"https://openalex.org/keywords/heart","display_name":"heart","score":0.45899999141693115},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.7110000252723694},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.593999981880188},{"id":"https://openalex.org/keywords/tissue-specific-mrna-expression","display_name":"tissue-specific mRNA expression","score":0.5870000123977661}],"concepts":[{"id":"https://openalex.org/C187882448","wikidata":"https://www.wikidata.org/wiki/Q283478","display_name":"Complementary DNA","level":3,"score":0.7108245491981506},{"id":"https://openalex.org/C64872895","wikidata":"https://www.wikidata.org/wiki/Q1361360","display_name":"Transversion","level":4,"score":0.6999058127403259},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6505475044250488},{"id":"https://openalex.org/C20580545","wikidata":"https://www.wikidata.org/wiki/Q28354","display_name":"Stop codon","level":3,"score":0.569426417350769},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.561359703540802},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5499146580696106},{"id":"https://openalex.org/C91779695","wikidata":"https://www.wikidata.org/wiki/Q3780824","display_name":"Coding region","level":3,"score":0.497974157333374},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.43744373321533203},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.39927467703819275}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002895","descriptor_name":"Chromosomes, Human, Pair 5","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003001","descriptor_name":"Cloning, Molecular","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006528","descriptor_name":"Carcinoma, Hepatocellular","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":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007662","descriptor_name":"Ketosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009206","descriptor_name":"Myocardium","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D009928","descriptor_name":"Organ Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D014407","descriptor_name":"Tumor Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015256","descriptor_name":"Coenzyme A-Transferases","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D015256","descriptor_name":"Coenzyme A-Transferases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016415","descriptor_name":"Sequence Alignment","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018076","descriptor_name":"DNA, Complementary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":3,"locations":[{"id":"pmid:8751852","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8751852","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":"American journal of human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:1914926","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1914926/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Am J Hum Genet","raw_type":"Text"},{"id":"mag:1562396900","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8751852","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:1914926","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1914926/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Am J Hum Genet","raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":35,"referenced_works":["https://openalex.org/W162162663","https://openalex.org/W202322907","https://openalex.org/W1496602812","https://openalex.org/W1502507463","https://openalex.org/W1521245440","https://openalex.org/W1543512341","https://openalex.org/W1564197710","https://openalex.org/W1568989609","https://openalex.org/W1570593464","https://openalex.org/W1573941143","https://openalex.org/W1577956681","https://openalex.org/W1585988293","https://openalex.org/W1621868693","https://openalex.org/W1969251323","https://openalex.org/W1970473208","https://openalex.org/W1973706463","https://openalex.org/W1986800717","https://openalex.org/W1989438417","https://openalex.org/W2008000048","https://openalex.org/W2014669590","https://openalex.org/W2030825547","https://openalex.org/W2032969302","https://openalex.org/W2044706970","https://openalex.org/W2045348184","https://openalex.org/W2053913910","https://openalex.org/W2057726416","https://openalex.org/W2092079602","https://openalex.org/W2108388593","https://openalex.org/W2115149771","https://openalex.org/W2132953573","https://openalex.org/W2165945808","https://openalex.org/W2175025904","https://openalex.org/W2398590520","https://openalex.org/W2411964386","https://openalex.org/W2417442653"],"related_works":["https://openalex.org/W2036436704","https://openalex.org/W96817384","https://openalex.org/W2106915215","https://openalex.org/W2035449098","https://openalex.org/W2070482595","https://openalex.org/W7098719959","https://openalex.org/W2135549828","https://openalex.org/W3130353476","https://openalex.org/W2759901396","https://openalex.org/W2735633330"],"abstract_inverted_index":{"Succinyl":[0],"CoA:":[1],"3-oxoacid":[2],"CoA":[3,21,59],"transferase":[4],"(SCOT;":[5],"E.C.2.8.3.5)":[6],"mediates":[7],"the":[8,16,44,52,91,99,105,129,145,164],"rate-determining":[9],"step":[10],"of":[11,18,34,51,65,115,167],"ketolysis":[12],"in":[13,24,30,77,90,110,171],"extrahepatic":[14],"tissues,":[15],"esterification":[17],"acetoacetate":[19],"to":[20,104,149],"for":[22],"use":[23],"energy":[25],"production.":[26],"Hereditary":[27],"SCOT":[28,40,54,73,101,120,131,172],"deficiency":[29],"humans":[31],"causes":[32],"episodes":[33],"severe":[35],"ketoacidosis.":[36],"We":[37,97,134],"obtained":[38],"human-heart":[39],"cDNA":[41,126],"clones":[42],"spanning":[43],"entire":[45,130],"1,560-nt":[46],"coding":[47,132],"sequence.":[48,133],"Sequence":[49],"alignment":[50],"human":[53,78,92,100],"peptides":[55],"with":[56,118,158],"other":[57],"known":[58],"transferases":[60],"revealed":[61],"several":[62],"conserved":[63],"regions":[64],"potential":[66],"functional":[67],"importance.":[68],"A":[69],"single":[70],"approximately":[71],"3.2-kb":[72],"mRNA":[74],"is":[75,88,156],"present":[76],"tissues":[79],"(heart":[80],">":[81],"leukocytes":[82],">>":[83],"fibroblasts),":[84],"but":[85],"no":[86],"signal":[87],"detectable":[89],"hepatoma":[93],"cell":[94],"line":[95],"HepG2.":[96],"mapped":[98],"locus":[102],"(OXCT)":[103],"cytogenetic":[106],"band":[107],"5p13":[108],"by":[109],"situ":[111],"hybridization.":[112],"From":[113],"fibroblasts":[114],"a":[116,136,150,168],"patient":[117],"hereditary":[119],"deficiency,":[121],"we":[122],"amplified":[123],"and":[124,162],"cloned":[125],"fragments":[127],"containing":[128],"found":[135],"homozygous":[137],"C-to-G":[138],"transversion":[139],"at":[140],"nt":[141],"848,":[142],"which":[143],"changes":[144],"Ser":[146],"283":[147],"codon":[148],"stop":[151],"codon.":[152],"This":[153],"mutation":[154,170],"(S283X)":[155],"incompatible":[157],"normal":[159],"enzyme":[160],"function":[161],"represents":[163],"first":[165],"documentation":[166],"pathogenic":[169],"deficiency.":[173]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":4}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}