{"id":"https://openalex.org/W4225620070","doi":"https://doi.org/10.1371/journal.pcbi.1010006","title":"Dynamic coupling of residues within proteins as a mechanistic foundation of many enigmatic pathogenic missense variants","display_name":"Dynamic coupling of residues within proteins as a mechanistic foundation of many enigmatic pathogenic missense variants","publication_year":2022,"publication_date":"2022-04-07","ids":{"openalex":"https://openalex.org/W4225620070","doi":"https://doi.org/10.1371/journal.pcbi.1010006","pmid":"https://pubmed.ncbi.nlm.nih.gov/35389981"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pcbi.1010006","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1010006","pdf_url":null,"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://doi.org/10.1371/journal.pcbi.1010006","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5045175443","display_name":"Nicholas J. Ose","orcid":"https://orcid.org/0000-0002-2194-5199"},"institutions":[{"id":"https://openalex.org/I55732556","display_name":"Arizona State University","ror":"https://ror.org/03efmqc40","country_code":"US","type":"education","lineage":["https://openalex.org/I55732556"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nicholas J. Ose","raw_affiliation_strings":["Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America"],"raw_orcid":"https://orcid.org/0000-0002-2194-5199","affiliations":[{"raw_affiliation_string":"Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America","institution_ids":["https://openalex.org/I55732556"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054767895","display_name":"Brandon M. Butler","orcid":null},"institutions":[{"id":"https://openalex.org/I55732556","display_name":"Arizona State University","ror":"https://ror.org/03efmqc40","country_code":"US","type":"education","lineage":["https://openalex.org/I55732556"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brandon M. Butler","raw_affiliation_strings":["Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America","institution_ids":["https://openalex.org/I55732556"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046445142","display_name":"Avishek Kumar","orcid":"https://orcid.org/0000-0003-3778-6206"},"institutions":[{"id":"https://openalex.org/I55732556","display_name":"Arizona State University","ror":"https://ror.org/03efmqc40","country_code":"US","type":"education","lineage":["https://openalex.org/I55732556"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Avishek Kumar","raw_affiliation_strings":["Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America"],"raw_orcid":"https://orcid.org/0000-0002-9911-3640","affiliations":[{"raw_affiliation_string":"Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America","institution_ids":["https://openalex.org/I55732556"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080858695","display_name":"I. Can Kazan","orcid":"https://orcid.org/0000-0003-2593-4179"},"institutions":[{"id":"https://openalex.org/I55732556","display_name":"Arizona State University","ror":"https://ror.org/03efmqc40","country_code":"US","type":"education","lineage":["https://openalex.org/I55732556"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"I. Can Kazan","raw_affiliation_strings":["Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America"],"raw_orcid":"https://orcid.org/0000-0003-2593-4179","affiliations":[{"raw_affiliation_string":"Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America","institution_ids":["https://openalex.org/I55732556"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033569885","display_name":"Maxwell Sanderford","orcid":"https://orcid.org/0000-0002-8173-9952"},"institutions":[{"id":"https://openalex.org/I84392919","display_name":"Temple University","ror":"https://ror.org/00kx1jb78","country_code":"US","type":"education","lineage":["https://openalex.org/I84392919"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Maxwell Sanderford","raw_affiliation_strings":["Department of Biology, Temple University, Philadelphia, Pennsylvania, United States of America","Institute for Genomics and Evolutionary Medicine, Temple University, Philadelphia, Pennsylvania, United States of America"],"raw_orcid":"https://orcid.org/0000-0002-8173-9952","affiliations":[{"raw_affiliation_string":"Department of Biology, Temple University, Philadelphia, Pennsylvania, United States of America","institution_ids":["https://openalex.org/I84392919"]},{"raw_affiliation_string":"Institute for Genomics and Evolutionary Medicine, Temple University, Philadelphia, Pennsylvania, United States of America","institution_ids":["https://openalex.org/I84392919"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100680948","display_name":"Sudhir Kumar","orcid":"https://orcid.org/0000-0002-9918-8212"},"institutions":[{"id":"https://openalex.org/I185163786","display_name":"King Abdulaziz University","ror":"https://ror.org/02ma4wv74","country_code":"SA","type":"education","lineage":["https://openalex.org/I185163786"]},{"id":"https://openalex.org/I84392919","display_name":"Temple University","ror":"https://ror.org/00kx1jb78","country_code":"US","type":"education","lineage":["https://openalex.org/I84392919"]}],"countries":["SA","US"],"is_corresponding":true,"raw_author_name":"Sudhir Kumar","raw_affiliation_strings":["Center for Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia","Department of Biology, Temple University, Philadelphia, Pennsylvania, United States of America","Institute for Genomics and Evolutionary Medicine, Temple University, Philadelphia, Pennsylvania, United States of America"],"raw_orcid":"https://orcid.org/0000-0002-9918-8212","affiliations":[{"raw_affiliation_string":"Center for Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia","institution_ids":["https://openalex.org/I185163786"]},{"raw_affiliation_string":"Department of Biology, Temple University, Philadelphia, Pennsylvania, United States of America","institution_ids":["https://openalex.org/I84392919"]},{"raw_affiliation_string":"Institute for Genomics and Evolutionary Medicine, Temple University, Philadelphia, Pennsylvania, United States of America","institution_ids":["https://openalex.org/I84392919"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5050843177","display_name":"S. Banu Ozkan","orcid":"https://orcid.org/0000-0002-9351-3758"},"institutions":[{"id":"https://openalex.org/I55732556","display_name":"Arizona State University","ror":"https://ror.org/03efmqc40","country_code":"US","type":"education","lineage":["https://openalex.org/I55732556"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"S. Banu Ozkan","raw_affiliation_strings":["Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America"],"raw_orcid":"https://orcid.org/0000-0002-9351-3758","affiliations":[{"raw_affiliation_string":"Department of Physics and Center for Biological Physics, Arizona State University, Tempe, Arizona, United States of America","institution_ids":["https://openalex.org/I55732556"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5050843177","https://openalex.org/A5100680948"],"corresponding_institution_ids":["https://openalex.org/I185163786","https://openalex.org/I55732556","https://openalex.org/I84392919"],"apc_list":{"value":2655,"currency":"USD","value_usd":2655},"apc_paid":{"value":2655,"currency":"USD","value_usd":2655},"fwci":4.6031,"has_fulltext":false,"cited_by_count":42,"citation_normalized_percentile":{"value":0.96110965,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":100},"biblio":{"volume":"18","issue":"4","first_page":"e1010006","last_page":"e1010006"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9975000023841858,"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"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9975000023841858,"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"}},{"id":"https://openalex.org/T10602","display_name":"Glycosylation and Glycoproteins Research","score":0.9955000281333923,"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/T10835","display_name":"Carbohydrate Chemistry and Synthesis","score":0.9851999878883362,"subfield":{"id":"https://openalex.org/subfields/1605","display_name":"Organic Chemistry"},"field":{"id":"https://openalex.org/fields/16","display_name":"Chemistry"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/missense-mutation","display_name":"Missense mutation","score":0.8795261383056641},{"id":"https://openalex.org/keywords/allosteric-regulation","display_name":"Allosteric regulation","score":0.7810114622116089},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.6285492181777954},{"id":"https://openalex.org/keywords/mechanism","display_name":"Mechanism (biology)","score":0.5760615468025208},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5330689549446106},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.45977815985679626},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.33166366815567017},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.22943809628486633}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8795261383056641},{"id":"https://openalex.org/C166342909","wikidata":"https://www.wikidata.org/wiki/Q845326","display_name":"Allosteric regulation","level":3,"score":0.7810114622116089},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6285492181777954},{"id":"https://openalex.org/C89611455","wikidata":"https://www.wikidata.org/wiki/Q6804646","display_name":"Mechanism (biology)","level":2,"score":0.5760615468025208},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5330689549446106},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.45977815985679626},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.33166366815567017},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.22943809628486633},{"id":"https://openalex.org/C111472728","wikidata":"https://www.wikidata.org/wiki/Q9471","display_name":"Epistemology","level":1,"score":0.0},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.0}],"mesh":[{"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":"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":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","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":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","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":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020134","descriptor_name":"Catalytic Domain","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020134","descriptor_name":"Catalytic Domain","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020134","descriptor_name":"Catalytic Domain","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020134","descriptor_name":"Catalytic Domain","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020134","descriptor_name":"Catalytic Domain","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020134","descriptor_name":"Catalytic Domain","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1371/journal.pcbi.1010006","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1010006","pdf_url":null,"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:35389981","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35389981","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:pcbi00:1010006","is_oa":false,"landing_page_url":"https://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1010006","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:6e2ba546c14d47ba9f054f2d9606ca48","is_oa":true,"landing_page_url":"https://doaj.org/article/6e2ba546c14d47ba9f054f2d9606ca48","pdf_url":null,"source":{"id":"https://openalex.org/S112646816","display_name":"SHILAP Revista de lepidopterolog\u00eda","issn_l":"0300-5267","issn":["0300-5267","2340-4078"],"is_oa":true,"is_in_doaj":true,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Computational Biology, Vol 18, Iss 4, p e1010006 (2022)","raw_type":"article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9017885","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9017885","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"},{"id":"pmh:oai:scholarshare.temple.edu:20.500.12613/9590","is_oa":true,"landing_page_url":"http://hdl.handle.net/20.500.12613/9590","pdf_url":null,"source":{"id":"https://openalex.org/S4306402624","display_name":"TUScholarShare (Temple University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I84392919","host_organization_name":"Temple University","host_organization_lineage":["https://openalex.org/I84392919"],"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":"","raw_type":"Journal article"}],"best_oa_location":{"id":"doi:10.1371/journal.pcbi.1010006","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1010006","pdf_url":null,"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/G1540705783","display_name":null,"funder_award_id":"GCR-1934848","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"},{"id":"https://openalex.org/G4472108922","display_name":null,"funder_award_id":"1715591","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"},{"id":"https://openalex.org/G4721501067","display_name":null,"funder_award_id":"GM-139504-01","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G5026781849","display_name":null,"funder_award_id":"1715591","funder_id":"https://openalex.org/F4320337397","funder_display_name":"Division of Molecular and Cellular Biosciences"},{"id":"https://openalex.org/G5483603948","display_name":null,"funder_award_id":"GM-139504","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G582882929","display_name":null,"funder_award_id":"1715591","funder_id":"https://openalex.org/F4320306202","funder_display_name":"Gordon and Betty Moore Foundation"}],"funders":[{"id":"https://openalex.org/F4320306076","display_name":"National Science Foundation","ror":"https://ror.org/021nxhr62"},{"id":"https://openalex.org/F4320306202","display_name":"Gordon and Betty Moore Foundation","ror":"https://ror.org/006wxqw41"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337397","display_name":"Division of Molecular and Cellular Biosciences","ror":"https://ror.org/002jdaq33"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":72,"referenced_works":["https://openalex.org/W1563940013","https://openalex.org/W1587767001","https://openalex.org/W1607931568","https://openalex.org/W1969120678","https://openalex.org/W1975596553","https://openalex.org/W1979374949","https://openalex.org/W1979965027","https://openalex.org/W1987819535","https://openalex.org/W1990520168","https://openalex.org/W1992253341","https://openalex.org/W2001307857","https://openalex.org/W2003539791","https://openalex.org/W2007348345","https://openalex.org/W2010595044","https://openalex.org/W2013253738","https://openalex.org/W2022497131","https://openalex.org/W2025374131","https://openalex.org/W2025670719","https://openalex.org/W2026387425","https://openalex.org/W2027780910","https://openalex.org/W2030939727","https://openalex.org/W2035687084","https://openalex.org/W2035890032","https://openalex.org/W2041205020","https://openalex.org/W2043822937","https://openalex.org/W2045164090","https://openalex.org/W2059145105","https://openalex.org/W2067174909","https://openalex.org/W2073175490","https://openalex.org/W2083120667","https://openalex.org/W2092387745","https://openalex.org/W2093381148","https://openalex.org/W2093944139","https://openalex.org/W2099564671","https://openalex.org/W2107175979","https://openalex.org/W2108267147","https://openalex.org/W2113994268","https://openalex.org/W2119097398","https://openalex.org/W2130479394","https://openalex.org/W2142115754","https://openalex.org/W2158424267","https://openalex.org/W2162128823","https://openalex.org/W2168798454","https://openalex.org/W2170109912","https://openalex.org/W2170968124","https://openalex.org/W2172565224","https://openalex.org/W2190773154","https://openalex.org/W2232951856","https://openalex.org/W2313116527","https://openalex.org/W2404280981","https://openalex.org/W2417513559","https://openalex.org/W2438101437","https://openalex.org/W2463492870","https://openalex.org/W2464694053","https://openalex.org/W2520187496","https://openalex.org/W2791743062","https://openalex.org/W2796386151","https://openalex.org/W2799524357","https://openalex.org/W2805565876","https://openalex.org/W2902285630","https://openalex.org/W2903084665","https://openalex.org/W2915159619","https://openalex.org/W2936990387","https://openalex.org/W2970727786","https://openalex.org/W2986717577","https://openalex.org/W3002774878","https://openalex.org/W3007271099","https://openalex.org/W3007324177","https://openalex.org/W3035128829","https://openalex.org/W3048845581","https://openalex.org/W3136115992","https://openalex.org/W4211156111"],"related_works":["https://openalex.org/W2939998722","https://openalex.org/W2169750653","https://openalex.org/W2195592873","https://openalex.org/W1971782741","https://openalex.org/W3005062988","https://openalex.org/W2075777827","https://openalex.org/W4211217675","https://openalex.org/W2592466923","https://openalex.org/W2069150591","https://openalex.org/W4232163425"],"abstract_inverted_index":{"Many":[0],"pathogenic":[1,63],"missense":[2,64,116,171],"mutations":[3,137,172],"are":[4,10,118],"found":[5],"in":[6,15,66,98,105,144],"protein":[7],"positions":[8,42,78],"that":[9,70,72,136],"neither":[11],"well-conserved":[12],"nor":[13],"fall":[14],"any":[16,23],"known":[17,45,80],"functional":[18,46,92],"domains.":[19],"Consequently,":[20],"we":[21,57],"lack":[22],"mechanistic":[24,178],"underpinning":[25],"of":[26,36,61,76,90,102,110,129,133,147,164],"dysfunction":[27,182],"caused":[28,169],"by":[29,170],"such":[30],"mutations.":[31],"We":[32,94],"explored":[33],"the":[34,44,124,130,145,160,165],"disruption":[35,163],"allosteric":[37,73],"dynamic":[38,74,156,167],"coupling":[39,75,168],"between":[40],"these":[41,139],"and":[43,88,183],"sites":[47,82,112,141],"as":[48],"a":[49,84,99,107,155,175],"possible":[50],"mechanism":[51,87,97],"for":[52,180],"pathogenesis.":[53],"In":[54],"this":[55,96],"study,":[56],"present":[58],"an":[59],"analysis":[60,128],"591":[62],"variants":[65,117],"144":[67],"human":[68],"enzymes":[69],"suggests":[71,135],"mutated":[77],"with":[79],"active":[81,125,148],"is":[83],"plausible":[85,176],"biophysical":[86],"evidence":[89],"their":[91,152],"importance.":[93],"illustrate":[95],"case":[100],"study":[101],"\u03b2-Glucocerebrosidase":[103],"(GCase)":[104],"which":[106],"vast":[108],"majority":[109],"94":[111],"harboring":[113],"Gaucher":[114],"disease-associated":[115],"located":[119],"some":[120],"distance":[121],"away":[122],"from":[123],"site.":[126],"An":[127],"conformational":[131],"dynamics":[132],"GCase":[134],"on":[138],"distal":[140],"cause":[142],"changes":[143],"flexibility":[146],"site":[149],"residues":[150],"despite":[151],"distance,":[153],"indicating":[154],"communication":[157],"network":[158],"throughout":[159],"protein.":[161],"The":[162],"long-distance":[166],"may":[173],"provide":[174],"general":[177],"explanation":[179],"biological":[181],"disease.":[184]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":16},{"year":2023,"cited_by_count":14},{"year":2022,"cited_by_count":2},{"year":2018,"cited_by_count":1}],"updated_date":"2026-01-13T01:12:25.745995","created_date":"2025-10-10T00:00:00"}
