{"id":"https://openalex.org/W2929477372","doi":"https://doi.org/10.1002/jimd.12091","title":"Mutations in the translocon\u2010associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation","display_name":"Mutations in the translocon\u2010associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation","publication_year":2019,"publication_date":"2019-04-04","ids":{"openalex":"https://openalex.org/W2929477372","doi":"https://doi.org/10.1002/jimd.12091","mag":"2929477372","pmid":"https://pubmed.ncbi.nlm.nih.gov/30945312","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6739144"},"language":"en","primary_location":{"id":"doi:10.1002/jimd.12091","doi":"https://doi.org/10.1002/jimd.12091","is_oa":false,"landing_page_url":"https://doi.org/10.1002/jimd.12091","pdf_url":null,"source":{"id":"https://openalex.org/S186577254","display_name":"Journal of Inherited Metabolic Disease","issn_l":"0141-8955","issn":["0141-8955","1573-2665"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Inherited Metabolic Disease","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6739144","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5021045099","display_name":"Bobby G. Ng","orcid":"https://orcid.org/0000-0003-0649-848X","observed_orcids":["https://orcid.org/0000-0003-0649-848X"]},"institutions":[{"id":"https://openalex.org/I188891513","display_name":"Sanford Burnham Prebys Medical Discovery Institute","ror":"https://ror.org/03m1g2s55","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I188891513"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bobby G. Ng","raw_affiliation_strings":["Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California"],"raw_orcid":"https://orcid.org/0000-0003-0649-848X","affiliations":[{"raw_affiliation_string":"Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California","institution_ids":["https://openalex.org/I188891513"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033262447","display_name":"Charles Marques Louren\u00e7o","orcid":"https://orcid.org/0000-0002-2296-6098","observed_orcids":["https://orcid.org/0000-0002-2296-6098"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Charles M. Louren\u00e7o","raw_affiliation_strings":["Clinical Genetics and Neurogenetics, Centro Universitario Estacio de Ribeirao Preto, Ribeirao Preto, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics and Neurogenetics, Centro Universitario Estacio de Ribeirao Preto, Ribeirao Preto, Brazil","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039664796","display_name":"Marie\u2010Estelle Losfeld","orcid":"https://orcid.org/0000-0002-8029-7822","observed_orcids":["https://orcid.org/0000-0002-8029-7822"]},"institutions":[{"id":"https://openalex.org/I188891513","display_name":"Sanford Burnham Prebys Medical Discovery Institute","ror":"https://ror.org/03m1g2s55","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I188891513"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Marie\u2010Estelle Losfeld","raw_affiliation_strings":["Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California","institution_ids":["https://openalex.org/I188891513"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064218047","display_name":"Kati J. Buckingham","orcid":"https://orcid.org/0009-0003-0627-0554","observed_orcids":["https://orcid.org/0009-0003-0627-0554"]},"institutions":[{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kati J. Buckingham","raw_affiliation_strings":["Department of Pediatrics, University of Washington, Seattle, Washington"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Washington, Seattle, Washington","institution_ids":["https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082477584","display_name":"Martin Kircher","orcid":"https://orcid.org/0000-0001-9278-5471","observed_orcids":["https://orcid.org/0000-0001-9278-5471"]},"institutions":[{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Martin Kircher","raw_affiliation_strings":["Department of Genome Sciences, University of Washington, Seattle, Washington"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genome Sciences, University of Washington, Seattle, Washington","institution_ids":["https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107596584","display_name":"Deborah A. Nickerson","orcid":"https://orcid.org/0000-0002-9954-4897","observed_orcids":["https://orcid.org/0000-0002-9954-4897"]},"institutions":[{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Deborah A. Nickerson","raw_affiliation_strings":["Department of Genome Sciences, University of Washington, Seattle, Washington"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genome Sciences, University of Washington, Seattle, Washington","institution_ids":["https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083897996","display_name":"Jay Shendure","orcid":"https://orcid.org/0000-0002-1516-1865","observed_orcids":["https://orcid.org/0000-0002-1516-1865"]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jay Shendure","raw_affiliation_strings":["Department of Genome Sciences, University of Washington, Seattle, Washington","Howard Hughes Medical Institute, University of Washington, Seattle, Washington"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genome Sciences, University of Washington, Seattle, Washington","institution_ids":["https://openalex.org/I201448701"]},{"raw_affiliation_string":"Howard Hughes Medical Institute, University of Washington, Seattle, Washington","institution_ids":["https://openalex.org/I1344073410","https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064174809","display_name":"Michael J. Bamshad","orcid":"https://orcid.org/0000-0002-9647-0861","observed_orcids":["https://orcid.org/0000-0002-9647-0861"]},"institutions":[{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael J. Bamshad","raw_affiliation_strings":["Department of Genome Sciences, University of Washington, Seattle, Washington","Department of Pediatrics, University of Washington, Seattle, Washington"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genome Sciences, University of Washington, Seattle, Washington","institution_ids":["https://openalex.org/I201448701"]},{"raw_affiliation_string":"Department of Pediatrics, University of Washington, Seattle, Washington","institution_ids":["https://openalex.org/I201448701"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5014532793","display_name":"Hudson H. Freeze","orcid":"https://orcid.org/0000-0001-6316-0501","observed_orcids":["https://orcid.org/0000-0001-6316-0501"]},"institutions":[{"id":"https://openalex.org/I188891513","display_name":"Sanford Burnham Prebys Medical Discovery Institute","ror":"https://ror.org/03m1g2s55","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I188891513"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Hudson H. Freeze","raw_affiliation_strings":["Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California","institution_ids":["https://openalex.org/I188891513"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5014532793"],"corresponding_institution_ids":["https://openalex.org/I188891513"],"apc_list":{"value":3760,"currency":"USD","value_usd":3760},"apc_paid":null,"fwci":0.9017,"has_fulltext":false,"cited_by_count":28,"citation_normalized_percentile":{"value":0.70129291,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"42","issue":"5","first_page":"993","last_page":"997"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10602","display_name":"Glycosylation and Glycoproteins Research","score":0.9243000149726868,"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"}},"topics":[{"id":"https://openalex.org/T10602","display_name":"Glycosylation and Glycoproteins Research","score":0.9243000149726868,"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.026799999177455902,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/T10617","display_name":"Cellular transport and secretion","score":0.01489999983459711,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/congenital-disorders-of-glycosylation","display_name":"congenital disorders of glycosylation","score":0.9660000205039978},{"id":"https://openalex.org/keywords/trap-complex","display_name":"TRAP complex","score":0.8899999856948853},{"id":"https://openalex.org/keywords/endoplasmic-reticulum-translocation","display_name":"endoplasmic reticulum translocation","score":0.7900000214576721},{"id":"https://openalex.org/keywords/oligosaccharyltransferase","display_name":"oligosaccharyltransferase","score":0.9330000281333923},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.7329999804496765},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.5329999923706055},{"id":"https://openalex.org/keywords/sensorineural-hearing-loss","display_name":"sensorineural hearing loss","score":0.8899999856948853},{"id":"https://openalex.org/keywords/protein-complex-stability","display_name":"protein complex stability","score":0.5979999899864197},{"id":"https://openalex.org/keywords/gp130","display_name":"gp130","score":0.7770000100135803},{"id":"https://openalex.org/keywords/icam-1","display_name":"ICAM-1","score":0.8949999809265137},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.5429999828338623}],"concepts":[{"id":"https://openalex.org/C199229279","wikidata":"https://www.wikidata.org/wiki/Q610647","display_name":"Translocon","level":4,"score":0.7286949157714844},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6899930238723755},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.6787053346633911},{"id":"https://openalex.org/C2777313579","wikidata":"https://www.wikidata.org/wiki/Q898365","display_name":"Glycosylation","level":2,"score":0.6528487801551819},{"id":"https://openalex.org/C104292427","wikidata":"https://www.wikidata.org/wiki/Q899781","display_name":"Protein subunit","level":3,"score":0.6143140196800232},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5907494425773621},{"id":"https://openalex.org/C158617107","wikidata":"https://www.wikidata.org/wiki/Q79927","display_name":"Endoplasmic reticulum","level":2,"score":0.5530650019645691},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4736001789569855},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.44964608550071716},{"id":"https://openalex.org/C24530287","wikidata":"https://www.wikidata.org/wiki/Q424204","display_name":"Transmembrane protein","level":3,"score":0.4197545647621155},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.3429054021835327},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.26852595806121826},{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.23434433341026306},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1981603503227234}],"mesh":[{"descriptor_ui":"D002135","descriptor_name":"Calcium-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006031","descriptor_name":"Glycosylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008562","descriptor_name":"Membrane Glycoproteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018000","descriptor_name":"Receptors, Peptide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018160","descriptor_name":"Receptors, Cytoplasmic and Nuclear","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018981","descriptor_name":"Congenital Disorders of Glycosylation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018981","descriptor_name":"Congenital Disorders of Glycosylation","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1002/jimd.12091","doi":"https://doi.org/10.1002/jimd.12091","is_oa":false,"landing_page_url":"https://doi.org/10.1002/jimd.12091","pdf_url":null,"source":{"id":"https://openalex.org/S186577254","display_name":"Journal of Inherited Metabolic Disease","issn_l":"0141-8955","issn":["0141-8955","1573-2665"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Inherited Metabolic Disease","raw_type":"journal-article"},{"id":"pmid:30945312","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30945312","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":"Journal of inherited metabolic disease","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:6739144","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6739144","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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"J Inherit Metab Dis","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:6739144","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6739144","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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"J Inherit Metab Dis","raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9074000120162964}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[{"id":"https://openalex.org/G8286803078","display_name":"UW Center for Mendelian Genomics","funder_award_id":"UM1HG006493","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G9000869086","display_name":"New Congenital Disorders of Glycosylation: Therapy and Models","funder_award_id":"R01DK099551","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":23,"referenced_works":["https://openalex.org/W1933976164","https://openalex.org/W1958002532","https://openalex.org/W1974097230","https://openalex.org/W1977997956","https://openalex.org/W2015720706","https://openalex.org/W2021458684","https://openalex.org/W2032719065","https://openalex.org/W2063097466","https://openalex.org/W2105765324","https://openalex.org/W2125815682","https://openalex.org/W2129652020","https://openalex.org/W2158891862","https://openalex.org/W2162480220","https://openalex.org/W2333950822","https://openalex.org/W2471427314","https://openalex.org/W2588962689","https://openalex.org/W2589383075","https://openalex.org/W2792177065","https://openalex.org/W2793939068","https://openalex.org/W2794565736","https://openalex.org/W2796918229","https://openalex.org/W2805651909","https://openalex.org/W2899710525"],"related_works":["https://openalex.org/W2129652020","https://openalex.org/W1533740155","https://openalex.org/W2125815682","https://openalex.org/W3017988969","https://openalex.org/W3207665088","https://openalex.org/W2596326689","https://openalex.org/W4386757482","https://openalex.org/W1912271449","https://openalex.org/W4394913126","https://openalex.org/W2559743963"],"abstract_inverted_index":{"The":[0],"translocon-associated":[1],"protein":[2,116],"(TRAP)":[3],"complex":[4,22,34,109,175],"facilitates":[5],"the":[6,11,18,73,87,95,104,107,164,170,173],"translocation":[7],"of":[8,27,38,45,94,114,120,132,172,182],"proteins":[9],"across":[10],"endoplasmic":[12],"reticulum":[13],"membrane":[14],"and":[15,57,60,69,117,122,147,176],"associates":[16],"with":[17,54,63,110],"oligosaccharyl":[19],"transferase":[20],"(OST)":[21],"to":[23,71],"maintain":[24],"proper":[25],"glycosylation":[26,46,136],"nascent":[28],"polypeptides.":[29],"Pathogenic":[30],"variants":[31],"in":[32,86,100,138,153,163],"either":[33],"cause":[35,155],"a":[36,80,111,156,178],"group":[37],"rare":[39],"genetic":[40,75],"disorders":[41,44],"termed,":[42],"congenital":[43],"(CDG).":[47],"We":[48],"report":[49],"an":[50,64],"individual":[51],"who":[52],"presented":[53],"severe":[55],"intellectual":[56],"developmental":[58],"disabilities":[59],"sensorineural":[61],"deafness":[62],"unsolved":[65],"type":[66],"I":[67],"CDG,":[68],"sought":[70],"identify":[72],"underlying":[74],"basis.":[76],"Exome":[77],"sequencing":[78],"identified":[79],"novel":[81,157,160,179],"homozygous":[82],"variant":[83,105,162],"c.278_281delAGGA":[84],"[p.Glu93Valfs*7]":[85],"signal":[88],"sequence":[89],"receptor":[90],"3":[91],"(SSR3)":[92],"subunit":[93,126],"TRAP":[96,108,174],"complex.":[97],"Biochemical":[98],"studies":[99],"patient":[101],"fibroblasts":[102,139],"showed":[103],"destabilized":[106],"complete":[112],"loss":[113,119],"SSR3":[115,154],"partial":[118],"SSR1":[121],"SSR4.":[123],"Importantly,":[124],"all":[125],"levels":[127],"were":[128],"corrected":[129],"by":[130],"expression":[131],"wild-type":[133],"SSR3.":[134],"Abnormal":[135],"status":[137],"was":[140],"confirmed":[141],"using":[142],"two":[143],"markers":[144],"proteins,":[145],"GP130":[146],"ICAM1.":[148],"Our":[149],"findings":[150],"confirm":[151],"mutations":[152],"CDG.":[158],"A":[159],"frameshift":[161],"translocon":[165],"associated":[166],"protein,":[167],"SSR3,":[168],"disrupts":[169],"stability":[171],"causes":[177],"Congenital":[180],"Disorder":[181],"Glycosylation.":[183]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2019-04-11T00:00:00"}
