{"id":"https://openalex.org/W181300351","doi":null,"title":"An inactivating mutation in the SOD 1 gene causes familial amyotrophic lateral sclerosis","display_name":"An inactivating mutation in the SOD 1 gene causes familial amyotrophic lateral sclerosis","publication_year":1994,"publication_date":"1994-09-01","ids":{"openalex":"https://openalex.org/W181300351","mag":"181300351"},"language":"en","primary_location":{"id":"mag:181300351","doi":null,"is_oa":false,"landing_page_url":"http://www.osti.gov/scitech/biblio/134287-inactivating-mutation-sod-gene-causes-familial-amyotrophic-lateral-sclerosis","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"The American Journal of Human Genetics","raw_type":null},"volume":null,"type":"article","indexed_in":[],"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/A5003810462","display_name":"Alb\u00e9na Pramatarova","orcid":"https://orcid.org/0000-0002-4059-3299","observed_orcids":["https://orcid.org/0000-0002-4059-3299"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alb\u00e9na Pramatarova","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-4059-3299","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002628021","display_name":"Guy Armand Rouleau","orcid":"https://orcid.org/0000-0001-8403-1418","observed_orcids":["https://orcid.org/0000-0001-8403-1418","https://orcid.org/0000-0002-6665-8572"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Guy A. Rouleau","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-8403-1418","affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5101514520","display_name":"Jun Goto","orcid":"https://orcid.org/0000-0002-0602-2150","observed_orcids":["https://orcid.org/0000-0002-0602-2150"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jun Goto","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-0602-2150","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5150,"currency":"USD","value_usd":5150},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.02220312,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"55","issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":1.0,"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/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":1.0,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.0,"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/T12187","display_name":"Glutathione Transferases and Polymorphisms","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/amyotrophic-lateral-sclerosis","display_name":"amyotrophic lateral sclerosis","score":0.9070000052452087},{"id":"https://openalex.org/keywords/familial-amyotrophic-lateral-sclerosis","display_name":"familial ALS","score":0.6510000228881836},{"id":"https://openalex.org/keywords/sod1-gene","display_name":"SOD1 gene","score":0.8700000047683716},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.8389999866485596},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.847000002861023},{"id":"https://openalex.org/keywords/cu-zn-superoxide-dismutase","display_name":"Cu/Zn superoxide dismutase","score":0.8629999756813049},{"id":"https://openalex.org/keywords/protein-truncation","display_name":"protein truncation","score":0.6850000023841858},{"id":"https://openalex.org/keywords/motor-neuron-degeneration","display_name":"motor neuron degeneration","score":0.656000018119812},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.7839999794960022},{"id":"https://openalex.org/keywords/human-chromosome-21","display_name":"chromosome 21","score":0.699999988079071},{"id":"https://openalex.org/keywords/neurotoxicity-mechanisms","display_name":"neurotoxicity mechanisms","score":0.6579999923706055}],"concepts":[{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.8450283408164978},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8174898624420166},{"id":"https://openalex.org/C2780596555","wikidata":"https://www.wikidata.org/wiki/Q206901","display_name":"Amyotrophic lateral sclerosis","level":3,"score":0.7882696390151978},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7075799703598022},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.6290638446807861},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5811963081359863},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5647544860839844},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5567432045936584},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.515714704990387},{"id":"https://openalex.org/C2775838275","wikidata":"https://www.wikidata.org/wiki/Q410776","display_name":"Superoxide dismutase","level":3,"score":0.438742458820343},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.1423654854297638},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.09747165441513062},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.0846271812915802},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0752471387386322},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.06706017255783081}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:181300351","doi":null,"is_oa":false,"landing_page_url":"http://www.osti.gov/scitech/biblio/134287-inactivating-mutation-sod-gene-causes-familial-amyotrophic-lateral-sclerosis","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"The American Journal of Human Genetics","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"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/W7162002813","https://openalex.org/W2096386031","https://openalex.org/W286185286","https://openalex.org/W2159107026","https://openalex.org/W2032611006","https://openalex.org/W2169484757","https://openalex.org/W2407646467","https://openalex.org/W2415793358","https://openalex.org/W7096597825","https://openalex.org/W2019260422"],"abstract_inverted_index":{"Amyotrophic":[0],"lateral":[1],"sclerosis":[2],"(ALS)":[3],"is":[4,35,73,142],"characterized":[5],"by":[6],"highly":[7],"selective":[8],"death":[9],"of":[10,24,31,64,98,120,137,153,160],"large":[11],"motor":[12],"neurons":[13],"in":[14,37,67,95,103,144],"the":[15,32,43,54,61,99,121,138,151,158,161],"cerebral":[16],"cortex":[17],"and":[18,34,115,131,141],"spinal":[19],"cord.":[20],"The":[21,123],"familial":[22],"form":[23],"ALS":[25],"(FALS)":[26],"accounts":[27],"for":[28],"approximately":[29],"10%":[30],"cases":[33],"transmitted":[36],"an":[38],"autosomal":[39],"dominant":[40],"manner.":[41],"Recently":[42],"defective":[44],"gene":[45,102],"causing":[46],"chromosome":[47],"21-linked":[48],"FALS":[49,68,105],"was":[50],"shown":[51],"to":[52],"be":[53],"Cu/Zn":[55],"superoxide":[56],"dismutase":[57],"(SOD":[58],"1).":[59],"However,":[60],"precise":[62],"mechanism":[63],"neurotoxicity":[65],"seen":[66],"with":[69],"SOD":[70,79,100],"1":[71,80,101],"mutations":[72,81],"still":[74],"unknown.":[75],"Until":[76],"now":[77],"all":[78],"reported":[82],"were":[83],"single":[84],"base":[85,109],"pair":[86,110],"substitutions":[87],"(missense).":[88],"We":[89,147],"have":[90],"identified":[91],"a":[92,104,113,116,127],"nonsense":[93],"mutation":[94],"exon":[96],"5":[97],"kindred.":[106],"This":[107],"two":[108],"deletion":[111],"provokes":[112],"frameshift":[114],"predicted":[117],"premature":[118],"truncation":[119],"protein.":[122],"region":[124],"affected":[125],"has":[126],"very":[128],"important":[129],"structural":[130],"functional":[132],"role:":[133],"it":[134],"contains":[135],"part":[136],"active":[139],"loop":[140],"involved":[143],"dimer":[145],"contact.":[146],"would":[148,156],"predict":[149],"that":[150],"loss":[152],"these":[154],"structures":[155],"impair":[157],"functioning":[159],"enzyme.":[162]},"counts_by_year":[],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2016-06-24T00:00:00"}