{"id":"https://openalex.org/W2271357175","doi":"https://doi.org/10.1371/journal.pcbi.1004693","title":"Molecular Mechanisms of Glutamine Synthetase Mutations that Lead to Clinically Relevant Pathologies","display_name":"Molecular Mechanisms of Glutamine Synthetase Mutations that Lead to Clinically Relevant Pathologies","publication_year":2016,"publication_date":"2016-02-02","ids":{"openalex":"https://openalex.org/W2271357175","doi":"https://doi.org/10.1371/journal.pcbi.1004693","mag":"2271357175","pmid":"https://pubmed.ncbi.nlm.nih.gov/26836257"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pcbi.1004693","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1004693","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1004693&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1004693&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5052250337","display_name":"Benedikt Frieg","orcid":"https://orcid.org/0000-0002-7877-0262"},"institutions":[{"id":"https://openalex.org/I44260953","display_name":"Heinrich Heine University D\u00fcsseldorf","ror":"https://ror.org/024z2rq82","country_code":"DE","type":"education","lineage":["https://openalex.org/I44260953"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Benedikt Frieg","raw_affiliation_strings":["Institute for Pharmaceutical and Medicinal Chemistry, Heinrich-Heine-University, D\u00fcsseldorf, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Pharmaceutical and Medicinal Chemistry, Heinrich-Heine-University, D\u00fcsseldorf, Germany","institution_ids":["https://openalex.org/I44260953"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006299820","display_name":"Boris G\u00f6rg","orcid":"https://orcid.org/0000-0002-4630-9420"},"institutions":[{"id":"https://openalex.org/I44260953","display_name":"Heinrich Heine University D\u00fcsseldorf","ror":"https://ror.org/024z2rq82","country_code":"DE","type":"education","lineage":["https://openalex.org/I44260953"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Boris G\u00f6rg","raw_affiliation_strings":["Clinic for Gastroenterology, Hepatology, and Infectious Diseases, Heinrich-Heine-University, D\u00fcsseldorf, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinic for Gastroenterology, Hepatology, and Infectious Diseases, Heinrich-Heine-University, D\u00fcsseldorf, Germany","institution_ids":["https://openalex.org/I44260953"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035943130","display_name":"Nadine Homeyer","orcid":null},"institutions":[{"id":"https://openalex.org/I44260953","display_name":"Heinrich Heine University D\u00fcsseldorf","ror":"https://ror.org/024z2rq82","country_code":"DE","type":"education","lineage":["https://openalex.org/I44260953"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Nadine Homeyer","raw_affiliation_strings":["Institute for Pharmaceutical and Medicinal Chemistry, Heinrich-Heine-University, D\u00fcsseldorf, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Pharmaceutical and Medicinal Chemistry, Heinrich-Heine-University, D\u00fcsseldorf, Germany","institution_ids":["https://openalex.org/I44260953"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084597097","display_name":"Verena Keitel","orcid":"https://orcid.org/0000-0003-1383-7662"},"institutions":[{"id":"https://openalex.org/I44260953","display_name":"Heinrich Heine University D\u00fcsseldorf","ror":"https://ror.org/024z2rq82","country_code":"DE","type":"education","lineage":["https://openalex.org/I44260953"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Verena Keitel","raw_affiliation_strings":["Clinic for Gastroenterology, Hepatology, and Infectious Diseases, Heinrich-Heine-University, D\u00fcsseldorf, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinic for Gastroenterology, Hepatology, and Infectious Diseases, Heinrich-Heine-University, D\u00fcsseldorf, Germany","institution_ids":["https://openalex.org/I44260953"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008452332","display_name":"Dieter H\u00e4ussinger","orcid":"https://orcid.org/0000-0002-5936-682X"},"institutions":[{"id":"https://openalex.org/I44260953","display_name":"Heinrich Heine University D\u00fcsseldorf","ror":"https://ror.org/024z2rq82","country_code":"DE","type":"education","lineage":["https://openalex.org/I44260953"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Dieter H\u00e4ussinger","raw_affiliation_strings":["Clinic for Gastroenterology, Hepatology, and Infectious Diseases, Heinrich-Heine-University, D\u00fcsseldorf, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinic for Gastroenterology, Hepatology, and Infectious Diseases, Heinrich-Heine-University, D\u00fcsseldorf, Germany","institution_ids":["https://openalex.org/I44260953"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5063949219","display_name":"Holger Gohlke","orcid":"https://orcid.org/0000-0001-8613-1447"},"institutions":[{"id":"https://openalex.org/I44260953","display_name":"Heinrich Heine University D\u00fcsseldorf","ror":"https://ror.org/024z2rq82","country_code":"DE","type":"education","lineage":["https://openalex.org/I44260953"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Holger Gohlke","raw_affiliation_strings":["Institute for Pharmaceutical and Medicinal Chemistry, Heinrich-Heine-University, D\u00fcsseldorf, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Pharmaceutical and Medicinal Chemistry, Heinrich-Heine-University, D\u00fcsseldorf, Germany","institution_ids":["https://openalex.org/I44260953"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5008452332","https://openalex.org/A5063949219"],"corresponding_institution_ids":["https://openalex.org/I44260953"],"apc_list":{"value":2655,"currency":"USD","value_usd":2655},"apc_paid":{"value":2655,"currency":"USD","value_usd":2655},"fwci":3.2627,"has_fulltext":true,"cited_by_count":38,"citation_normalized_percentile":{"value":0.90044664,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":99},"biblio":{"volume":"12","issue":"2","first_page":"e1004693","last_page":"e1004693"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12770","display_name":"Amino Acid Enzymes and Metabolism","score":0.9998999834060669,"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"}},"topics":[{"id":"https://openalex.org/T12770","display_name":"Amino Acid Enzymes and Metabolism","score":0.9998999834060669,"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"}},{"id":"https://openalex.org/T12827","display_name":"Biochemical and Molecular Research","score":0.9993000030517578,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9984999895095825,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/glutamine-synthetase","display_name":"Glutamine synthetase","score":0.6800066232681274},{"id":"https://openalex.org/keywords/glutamine","display_name":"Glutamine","score":0.6560080051422119},{"id":"https://openalex.org/keywords/mutant","display_name":"Mutant","score":0.5530366897583008},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5269587635993958},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.525650143623352},{"id":"https://openalex.org/keywords/biochemistry","display_name":"Biochemistry","score":0.4852299690246582},{"id":"https://openalex.org/keywords/amino-acid","display_name":"Amino acid","score":0.43989184498786926},{"id":"https://openalex.org/keywords/molecular-biology","display_name":"Molecular biology","score":0.37550538778305054},{"id":"https://openalex.org/keywords/chemistry","display_name":"Chemistry","score":0.3258606791496277},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.11710548400878906}],"concepts":[{"id":"https://openalex.org/C2779289688","wikidata":"https://www.wikidata.org/wiki/Q418306","display_name":"Glutamine synthetase","level":4,"score":0.6800066232681274},{"id":"https://openalex.org/C2779349466","wikidata":"https://www.wikidata.org/wiki/Q181619","display_name":"Glutamine","level":3,"score":0.6560080051422119},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.5530366897583008},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5269587635993958},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.525650143623352},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.4852299690246582},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.43989184498786926},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.37550538778305054},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3258606791496277},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11710548400878906}],"mesh":[{"descriptor_ui":"D000255","descriptor_name":"Adenosine Triphosphate","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D000255","descriptor_name":"Adenosine Triphosphate","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D000255","descriptor_name":"Adenosine Triphosphate","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D000592","descriptor_name":"Amino Acid Metabolism, Inborn Errors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000592","descriptor_name":"Amino Acid Metabolism, Inborn Errors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000592","descriptor_name":"Amino Acid Metabolism, Inborn Errors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005974","descriptor_name":"Glutamate-Ammonia Ligase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D005974","descriptor_name":"Glutamate-Ammonia Ligase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D005974","descriptor_name":"Glutamate-Ammonia Ligase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D005974","descriptor_name":"Glutamate-Ammonia Ligase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005974","descriptor_name":"Glutamate-Ammonia Ligase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005974","descriptor_name":"Glutamate-Ammonia Ligase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005974","descriptor_name":"Glutamate-Ammonia Ligase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005974","descriptor_name":"Glutamate-Ammonia Ligase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005974","descriptor_name":"Glutamate-Ammonia Ligase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005974","descriptor_name":"Glutamate-Ammonia Ligase","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D005974","descriptor_name":"Glutamate-Ammonia Ligase","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D005974","descriptor_name":"Glutamate-Ammonia Ligase","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011485","descriptor_name":"Protein Binding","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011485","descriptor_name":"Protein Binding","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011485","descriptor_name":"Protein Binding","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D056004","descriptor_name":"Molecular Dynamics Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056004","descriptor_name":"Molecular Dynamics Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056004","descriptor_name":"Molecular Dynamics Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057809","descriptor_name":"HEK293 Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057809","descriptor_name":"HEK293 Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057809","descriptor_name":"HEK293 Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1371/journal.pcbi.1004693","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1004693","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1004693&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},{"id":"pmid:26836257","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26836257","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,"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":"PLoS computational biology","raw_type":null},{"id":"pmh:oai:RePEc:plo:pcbi00:1004693","is_oa":false,"landing_page_url":"https://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1004693","pdf_url":null,"source":{"id":"https://openalex.org/S4306401271","display_name":"RePEc: Research Papers in Economics","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I77793887","host_organization_name":"Federal Reserve Bank of St. Louis","host_organization_lineage":["https://openalex.org/I77793887"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article"},{"id":"pmh:oai:doaj.org/article:4b46dbd80bb24f2889bfcc00ebc4998b","is_oa":true,"landing_page_url":"https://doaj.org/article/4b46dbd80bb24f2889bfcc00ebc4998b","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Computational Biology, Vol 12, Iss 2, p e1004693 (2016)","raw_type":"article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4737493","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4737493","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,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Comput Biol","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1371/journal.pcbi.1004693","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1004693","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1004693&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G853243261","display_name":null,"funder_award_id":"SFB 974","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"}],"funders":[{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2271357175.pdf","grobid_xml":"https://content.openalex.org/works/W2271357175.grobid-xml"},"referenced_works_count":87,"referenced_works":["https://openalex.org/W1483744369","https://openalex.org/W1508583216","https://openalex.org/W1516459493","https://openalex.org/W1528130557","https://openalex.org/W1554255186","https://openalex.org/W1555967769","https://openalex.org/W1577912061","https://openalex.org/W1605674029","https://openalex.org/W1964525381","https://openalex.org/W1968984443","https://openalex.org/W1969046853","https://openalex.org/W1969836007","https://openalex.org/W1969873373","https://openalex.org/W1970103851","https://openalex.org/W1970611355","https://openalex.org/W1971293133","https://openalex.org/W1976161355","https://openalex.org/W1976499671","https://openalex.org/W1978330227","https://openalex.org/W1980022131","https://openalex.org/W1982030445","https://openalex.org/W1982545384","https://openalex.org/W1985997202","https://openalex.org/W1987080089","https://openalex.org/W1987086621","https://openalex.org/W1987137042","https://openalex.org/W1988608727","https://openalex.org/W1990629546","https://openalex.org/W1991667171","https://openalex.org/W1993395402","https://openalex.org/W2000773358","https://openalex.org/W2000801166","https://openalex.org/W2004676220","https://openalex.org/W2008844090","https://openalex.org/W2015642465","https://openalex.org/W2015647379","https://openalex.org/W2015789902","https://openalex.org/W2016613538","https://openalex.org/W2018470679","https://openalex.org/W2019594669","https://openalex.org/W2021370489","https://openalex.org/W2022237684","https://openalex.org/W2025768791","https://openalex.org/W2030219424","https://openalex.org/W2030841140","https://openalex.org/W2037614800","https://openalex.org/W2048588519","https://openalex.org/W2050574817","https://openalex.org/W2051854969","https://openalex.org/W2057400263","https://openalex.org/W2057626084","https://openalex.org/W2057647408","https://openalex.org/W2061029954","https://openalex.org/W2061532551","https://openalex.org/W2061538287","https://openalex.org/W2062989416","https://openalex.org/W2067116292","https://openalex.org/W2067174909","https://openalex.org/W2075369230","https://openalex.org/W2078893885","https://openalex.org/W2085405156","https://openalex.org/W2088033971","https://openalex.org/W2091311110","https://openalex.org/W2094025655","https://openalex.org/W2096775397","https://openalex.org/W2100059026","https://openalex.org/W2102128987","https://openalex.org/W2104703549","https://openalex.org/W2105371577","https://openalex.org/W2106140689","https://openalex.org/W2112855704","https://openalex.org/W2118233996","https://openalex.org/W2122199548","https://openalex.org/W2139898911","https://openalex.org/W2142820798","https://openalex.org/W2142868265","https://openalex.org/W2144288821","https://openalex.org/W2147463023","https://openalex.org/W2157281740","https://openalex.org/W2237988654","https://openalex.org/W2253370260","https://openalex.org/W2313116527","https://openalex.org/W2332712348","https://openalex.org/W2399963799","https://openalex.org/W4210599536","https://openalex.org/W6628875336","https://openalex.org/W6636176202"],"related_works":["https://openalex.org/W1866222897","https://openalex.org/W2029624447","https://openalex.org/W2094643509","https://openalex.org/W2155835698","https://openalex.org/W2119738915","https://openalex.org/W2111784969","https://openalex.org/W2022749662","https://openalex.org/W2060794300","https://openalex.org/W4240785775","https://openalex.org/W2027223071"],"abstract_inverted_index":{"Glutamine":[0],"synthetase":[1],"(GS)":[2],"catalyzes":[3],"ATP-dependent":[4],"ligation":[5],"of":[6,14,52,79,95,134,147,170,176,187,189,237],"ammonia":[7],"and":[8,18,67,85],"glutamate":[9,154,194],"to":[10,22,93,101,141],"glutamine.":[11],"Two":[12],"mutations":[13,57,74,87],"human":[15],"GS":[16,35,53,80,89,115,164,211,223],"(R324C":[17],"R341C)":[19],"were":[20],"connected":[21],"congenital":[23],"glutamine":[24],"deficiency":[25],"with":[26,98,180,208],"severe":[27],"brain":[28],"malformations":[29],"resulting":[30],"in":[31,40,130,143,160,192,204,226],"neonatal":[32],"death.":[33],"Another":[34],"mutation":[36,120,138,175],"(R324S)":[37],"was":[38,158,172],"identified":[39],"a":[41,144,185,198],"neurologically":[42],"compromised":[43],"patient.":[44],"However,":[45],"the":[46,50,76,112,126,131,137,193,213,235,243],"molecular":[47,219],"mechanisms":[48],"underlying":[49,221],"impairment":[51],"activity":[54,91,225],"by":[55,124,165,184,202,241],"these":[56],"have":[58],"remained":[59],"elusive.":[60],"Molecular":[61],"dynamics":[62],"simulations,":[63],"free":[64],"energy":[65],"calculations,":[66],"rigidity":[68],"analyses":[69,216],"suggest":[70],"that":[71],"all":[72],"three":[73,227],"influence":[75],"first":[77],"step":[78],"catalytic":[81,90,224],"cycle.":[82],"The":[83,118],"R324S":[84,244],"R324C":[86],"deteriorate":[88],"due":[92],"loss":[94,186],"direct":[96],"interactions":[97,105],"ATP.":[99],"As":[100],"R324S,":[102],"indirect,":[103],"water-mediated":[104],"reduce":[106],"this":[107],"effect,":[108],"which":[109,150,242],"may":[110],"explain":[111],"suggested":[113],"higher":[114],"residual":[116],"activity.":[117],"R341C":[119],"weakens":[121],"ATP":[122,238],"binding":[123,195],"destabilizing":[125],"interacting":[127,179],"residue":[128],"R340":[129],"apo":[132],"state":[133],"GS.":[135],"Additionally,":[136],"is":[139],"predicted":[140],"result":[142],"significant":[145],"destabilization":[146],"helix":[148],"H8,":[149],"should":[151],"negatively":[152],"affect":[153],"binding.":[155],"This":[156],"prediction":[157],"tested":[159],"HEK293":[161],"cells":[162,206],"overexpressing":[163],"dot-blot":[166],"analysis:":[167],"Structural":[168],"stability":[169],"H8":[171],"impaired":[173,222],"through":[174],"amino":[177],"acids":[178],"R341,":[181],"as":[182],"indicated":[183],"masking":[188],"an":[190],"epitope":[191],"pocket":[196],"for":[197],"monoclonal":[199],"anti-GS":[200],"antibody":[201],"L-methionine-S-sulfoximine;":[203],"contrast,":[205],"transfected":[207],"wild":[209],"type":[210],"showed":[212],"masking.":[214],"Our":[215,231],"reveal":[217],"complex":[218],"effects":[220],"clinically":[228],"relevant":[229],"mutants.":[230],"findings":[232],"could":[233],"stimulate":[234],"development":[236],"binding-enhancing":[239],"molecules":[240],"mutant":[245],"can":[246],"be":[247],"repaired":[248],"extrinsically.":[249]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":3},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":5}],"updated_date":"2026-05-06T08:25:59.206177","created_date":"2025-10-10T00:00:00"}