{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:14:54Z","timestamp":1772118894514,"version":"3.50.1"},"reference-count":59,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T00:00:00Z","timestamp":1733443200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","award":["FSRG\u20102024\u20130001"],"award-info":[{"award-number":["FSRG\u20102024\u20130001"]}],"id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Proteins"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>NBAS<\/jats:italic>\n                    gene variants cause phenotypically distinct and nonoverlapping conditions, SOPH syndrome and ILFS2. NBAS is a so\u2010called \u201cmoonlighting\u201d protein responsible for retrograde membrane trafficking and nonsense\u2010mediated decay. However, its three\u2010dimensional model and the nature of its possible interactions with other proteins have remained elusive. Here, we used AlphaFold to predict protein\u2013protein interaction (PPI) sites and mapped them to\n                    <jats:italic>NBAS<\/jats:italic>\n                    pathogenic variants. We repeated\n                    <jats:italic>in silico<\/jats:italic>\n                    milestone studies of the NBAS protein to explain the multisystem phenotype of its variants, with particular emphasis on the SOPH variant (p.R1914H). We revealed the putative binding sites for the main interaction partners of NBAS and assessed the implications of these binding sites for the subdomain architecture of the NBAS protein. Using AlphaFold, we disclosed the far\u2010reaching impact of\n                    <jats:italic>NBAS<\/jats:italic>\n                    variants on the development of each phenotypic trait in patients with\n                    <jats:italic>NBAS<\/jats:italic>\n                    \u2010related pathologies.\n                  <\/jats:p>","DOI":"10.1002\/prot.26764","type":"journal-article","created":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T08:14:32Z","timestamp":1733472872000},"page":"871-884","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Protein\u2010Variant\u2010Phenotype Study of\n                    <scp>NBAS<\/scp>\n                    Using\n                    <scp>AlphaFold<\/scp>\n                    in the Aspect of\n                    <scp>SOPH<\/scp>\n                    Syndrome"],"prefix":"10.1002","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1107-0384","authenticated-orcid":false,"given":"Leonid","family":"Zhozhikov","sequence":"first","affiliation":[{"name":"Research Laboratory of \u201cMolecular Medicine and Human Genetics\u201d Institute of Medicine, Ammosov North\u2010Eastern Federal University  Yakutsk Republic of Sakha (Yakutia) Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0315-852X","authenticated-orcid":false,"given":"Filipp","family":"Vasilev","sequence":"additional","affiliation":[{"name":"Research Laboratory of \u201cMolecular Medicine and Human Genetics\u201d Institute of Medicine, Ammosov North\u2010Eastern Federal University  Yakutsk Republic of Sakha (Yakutia) Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8258-7452","authenticated-orcid":false,"given":"Nadezhda","family":"Maksimova","sequence":"additional","affiliation":[{"name":"Research Laboratory of \u201cMolecular Medicine and Human Genetics\u201d Institute of Medicine, Ammosov North\u2010Eastern Federal University  Yakutsk Republic of Sakha (Yakutia) Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,12,6]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37338"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.074815"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0698-4"},{"key":"e_1_2_9_5_1","first-page":"371","article-title":"\u041b\u0438\u0442\u0435\u0440\u0430\u0442\u0443\u0440\u043d\u044b\u0439 \u043e\u0431\u0437\u043e\u0440 NBAS\u2010\u0430\u0441\u0441\u043e\u0446\u0438\u0438\u0440\u043e\u0432\u0430\u043d\u043d\u044b\u0445 \u043f\u0430\u0442\u043e\u043b\u043e\u0433\u0438\u0439","volume":"59","author":"\u0416\u043e\u0436\u0438\u043a\u043e\u0432 \u041b. \u0420.","year":"2023","journal-title":"\u0412\u0441\u0435 \u043b\u0438 \u043d\u0430\u0439\u0434\u0435\u043d\u044b? 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