{"id":"https://openalex.org/W2014011193","doi":"https://doi.org/10.1038/ng0197-91","title":"Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions","display_name":"Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions","publication_year":1997,"publication_date":"1997-01-01","ids":{"openalex":"https://openalex.org/W2014011193","doi":"https://doi.org/10.1038/ng0197-91","mag":"2014011193","pmid":"https://pubmed.ncbi.nlm.nih.gov/8988176"},"language":"en","primary_location":{"id":"doi:10.1038/ng0197-91","doi":"https://doi.org/10.1038/ng0197-91","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ng0197-91","pdf_url":null,"source":{"id":"https://openalex.org/S137905309","display_name":"Nature Genetics","issn_l":"1061-4036","issn":["1061-4036","1546-1718"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Genetics","raw_type":"journal-article"},"volume":null,"type":"article","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/A5022025205","display_name":"Catherine B. Kunst","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Catherine B. Kunst","raw_affiliation_strings":["Eleanor Roosevelt Institute for Cancer Research, Denver, Colorado, USA","Eleanor Roosevelt Institute for Cancer Research,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Eleanor Roosevelt Institute for Cancer Research, Denver, Colorado, USA","institution_ids":[]},{"raw_affiliation_string":"Eleanor Roosevelt Institute for Cancer Research,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064213795","display_name":"\u00c9va Mezey","orcid":"https://orcid.org/0000-0002-5907-4691","observed_orcids":["https://orcid.org/0000-0002-5907-4691"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210158500","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210158500"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eva Mezey","raw_affiliation_strings":["laboratory of Cell Biology, National Institute of Mental Health, Bethesda, Maryland, 20892, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"laboratory of Cell Biology, National Institute of Mental Health, Bethesda, Maryland, 20892, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210158500"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108912848","display_name":"Michael Brownstein","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210158500","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210158500"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael J. Brownstein","raw_affiliation_strings":["laboratory of Cell Biology, National Institute of Mental Health, Bethesda, Maryland, 20892, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"laboratory of Cell Biology, National Institute of Mental Health, Bethesda, Maryland, 20892, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210158500"]}]},{"author_position":"last","author":{"id":null,"display_name":"David Patterson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210087413","display_name":"University of Colorado Health","ror":"https://ror.org/0107w4315","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087413"]},{"id":"https://openalex.org/I921990950","display_name":"University of Colorado Denver","ror":"https://ror.org/02hh7en24","country_code":"US","type":"education","lineage":["https://openalex.org/I921990950"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David Patterson","raw_affiliation_strings":["Eleanor Roosevelt Institute for Cancer Research,","Human Medical Genetics Program and Departments of Biochemistry, Biophysics and Genetics and Medicine of the University of Colorado Health Science Center, 1899 Gaylord Street, Denver, Colorado, 80206, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Eleanor Roosevelt Institute for Cancer Research,","institution_ids":[]},{"raw_affiliation_string":"Human Medical Genetics Program and Departments of Biochemistry, Biophysics and Genetics and Medicine of the University of Colorado Health Science Center, 1899 Gaylord Street, Denver, Colorado, 80206, USA","institution_ids":["https://openalex.org/I4210087413","https://openalex.org/I921990950"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":12690,"currency":"USD","value_usd":12690},"apc_paid":null,"fwci":7.0815,"has_fulltext":false,"cited_by_count":126,"citation_normalized_percentile":{"value":0.97174384,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"15","issue":"1","first_page":"91","last_page":"94"},"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":"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":"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/T10086","display_name":"Alzheimer's disease research and treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/amyotrophic-lateral-sclerosis","display_name":"amyotrophic lateral sclerosis","score":0.9980000257492065},{"id":"https://openalex.org/keywords/sod1-mutations","display_name":"SOD1 mutations","score":0.925000011920929},{"id":"https://openalex.org/keywords/cu-zn-superoxide-dismutase","display_name":"Cu/Zn superoxide dismutase","score":0.9120000004768372},{"id":"https://openalex.org/keywords/protein-protein-interaction","display_name":"protein-protein interaction","score":0.847000002861023},{"id":"https://openalex.org/keywords/lysyl-trna-synthetase","display_name":"lysyl-tRNA synthetase","score":0.9919999837875366},{"id":"https://openalex.org/keywords/motor-neuron-degeneration","display_name":"motor neuron degeneration","score":0.7789999842643738},{"id":"https://openalex.org/keywords/gain-of-function-mutations","display_name":"gain-of-function mutations","score":0.7020000219345093},{"id":"https://openalex.org/keywords/yeast-two-hybrid-screen","display_name":"yeast two-hybrid screen","score":0.6370000243186951}],"concepts":[{"id":"https://openalex.org/C2780596555","wikidata":"https://www.wikidata.org/wiki/Q206901","display_name":"Amyotrophic lateral sclerosis","level":3,"score":0.9738559722900391},{"id":"https://openalex.org/C2777615887","wikidata":"https://www.wikidata.org/wiki/Q15328137","display_name":"SOD1","level":4,"score":0.894667387008667},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8371143937110901},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5312874913215637},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.48871421813964844},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.3998938202857971},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.22153747081756592},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17267915606498718},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1352626085281372},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.09452423453330994},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.08931905031204224}],"mesh":[{"descriptor_ui":"D000071443","descriptor_name":"12E7 Antigen","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002135","descriptor_name":"Calcium-Binding Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D004926","descriptor_name":"Escherichia coli","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":"D008250","descriptor_name":"Lysine-tRNA Ligase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008562","descriptor_name":"Membrane Glycoproteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","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":"D011485","descriptor_name":"Protein Binding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D011993","descriptor_name":"Recombinant Fusion Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012441","descriptor_name":"Saccharomyces cerevisiae","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013116","descriptor_name":"Spinal Cord","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":false},{"descriptor_ui":"D013116","descriptor_name":"Spinal Cord","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D013482","descriptor_name":"Superoxide Dismutase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D013482","descriptor_name":"Superoxide Dismutase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D015703","descriptor_name":"Antigens, CD","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D015815","descriptor_name":"Cell Adhesion Molecules","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018000","descriptor_name":"Receptors, Peptide","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018160","descriptor_name":"Receptors, Cytoplasmic and Nuclear","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1038/ng0197-91","doi":"https://doi.org/10.1038/ng0197-91","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ng0197-91","pdf_url":null,"source":{"id":"https://openalex.org/S137905309","display_name":"Nature Genetics","issn_l":"1061-4036","issn":["1061-4036","1546-1718"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Genetics","raw_type":"journal-article"},{"id":"pmid:8988176","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8988176","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":"Nature genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8048999905586243,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1050716819","display_name":null,"funder_award_id":"AG 00029","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G5386983745","display_name":null,"funder_award_id":"HD 07197","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G6027433256","display_name":null,"funder_award_id":"HD17449","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G942717708","display_name":"SOMATIC CELL GENETIC STUDIES OF DOWN SYNDROME","funder_award_id":"P01HD017449","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":31,"referenced_works":["https://openalex.org/W153692965","https://openalex.org/W193161715","https://openalex.org/W286185286","https://openalex.org/W1497111884","https://openalex.org/W1499705462","https://openalex.org/W1602336795","https://openalex.org/W1830249950","https://openalex.org/W1978104052","https://openalex.org/W1996097421","https://openalex.org/W1997577743","https://openalex.org/W2005545438","https://openalex.org/W2020914812","https://openalex.org/W2032670789","https://openalex.org/W2043501837","https://openalex.org/W2045930677","https://openalex.org/W2047524608","https://openalex.org/W2048723717","https://openalex.org/W2053712580","https://openalex.org/W2053842816","https://openalex.org/W2065958196","https://openalex.org/W2070243481","https://openalex.org/W2072978915","https://openalex.org/W2074531504","https://openalex.org/W2096386031","https://openalex.org/W2097577318","https://openalex.org/W2107768418","https://openalex.org/W2159107026","https://openalex.org/W2169333620","https://openalex.org/W2169420688","https://openalex.org/W2404274932","https://openalex.org/W2628074563"],"related_works":["https://openalex.org/W2000291566","https://openalex.org/W7162002813","https://openalex.org/W2019260422","https://openalex.org/W2800176521","https://openalex.org/W2009030515","https://openalex.org/W2126925362","https://openalex.org/W2095053755","https://openalex.org/W1993864809","https://openalex.org/W286185286","https://openalex.org/W2612213603"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":4},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}