{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:25:30Z","timestamp":1792167930563,"version":"4.4.0"},"reference-count":47,"publisher":"Bioscientifica","issue":"3","content-domain":{"domain":["erc.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:p>\n                    Mitochondrial dysfunction, due to mutations of the gene encoding succinate dehydrogenase (SDH), has been implicated in the development of adrenal phaeochromocytomas, sympathetic and parasympathetic paragangliomas, renal cell carcinomas, gastrointestinal stromal tumours and more recently pituitary tumours. Underlying mechanisms behind germline SDH subunit B (\n                    <jats:italic>SDHB<\/jats:italic>\n                    ) mutations and their associated risk of disease are not clear. To investigate genotype\u2013phenotype correlation of SDH subunit B (\n                    <jats:italic>SDHB<\/jats:italic>\n                    ) variants, a homology model for human\n                    <jats:italic>SDH<\/jats:italic>\n                    was developed from a crystallographic structure.\n                    <jats:italic>SDHB<\/jats:italic>\n                    mutations were mapped, and biochemical effects of these mutations were predicted\n                    <jats:italic>in silico<\/jats:italic>\n                    . Results of structural modelling indicated that many mutations within\n                    <jats:italic>SDHB<\/jats:italic>\n                    are predicted to cause either failure of functional\n                    <jats:italic>SDHB<\/jats:italic>\n                    expression (p.Arg27*, p.Arg90*, c.88delC and c.311delAinsGG), or disruption of the electron path (p.Cys101Tyr, p.Pro197Arg and p.Arg242His). GFP-tagged WT\n                    <jats:italic>SDHB<\/jats:italic>\n                    and mutant\n                    <jats:italic>SDHB<\/jats:italic>\n                    constructs were transfected (HEK293) to determine biological outcomes of these mutants\n                    <jats:italic>in vitro<\/jats:italic>\n                    . According to\n                    <jats:italic>in silico<\/jats:italic>\n                    predictions, specific\n                    <jats:italic>SDHB<\/jats:italic>\n                    mutations resulted in impaired mitochondrial localisation and\/or SDH enzymatic activity. These results indicated strong genotype\u2013functional correlation for\n                    <jats:italic>SDHB<\/jats:italic>\n                    variants. This study reveals new insights into the effects of\n                    <jats:italic>SDHB<\/jats:italic>\n                    mutations and the power of structural modelling in predicting biological consequences. We predict that our functional assessment of\n                    <jats:italic>SDHB<\/jats:italic>\n                    mutations will serve to better define specific consequences for SDH activity as well as to provide a much needed assay to distinguish pathogenic mutations from benign variants.\n                  <\/jats:p>","DOI":"10.1530\/erc-15-0099","type":"journal-article","created":{"date-parts":[[2015,5,13]],"date-time":"2015-05-13T22:12:02Z","timestamp":1431555122000},"page":"387-397","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":35,"title":["Structural and functional consequences of succinate dehydrogenase subunit B mutations"],"prefix":"10.1530","volume":"22","author":[{"given":"E","family":"Kim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E M","family":"Rath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V H M","family":"Tsang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A P","family":"Duff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B G","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W B","family":"Church","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D E","family":"Benn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Dwight","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R J","family":"Clifton-Bligh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"1_50398772","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","year":"2010","journal-title":"NATURE METHODS"},{"issue":"34","key":"2_19713360","doi-asserted-by":"publisher","first-page":"8812","DOI":"10.1200\/JCO.2005.03.1484","volume":"23","author":"Amar","year":"2005","journal-title":"Journal of Clinical Oncology","ISSN":"https:\/\/id.crossref.org\/issn\/0732-183X","issn-type":"print"},{"issue":"8","key":"3_41756893","doi-asserted-by":"publisher","first-page":"906","DOI":"10.1002\/jcc.22927","volume":"33","author":"Balabin","year":"2012","journal-title":"Journal of computational chemistry","ISSN":"https:\/\/id.crossref.org\/issn\/0192-8651","issn-type":"print"},{"key":"4_50505565","first-page":"83","volume":"55","year":"2003","journal-title":"INTERNATIONAL UNION OF BIOCHEMISTRY AND MOLECULAR BIOLOGY"},{"key":"5_33607441","first-page":"39","volume":"6","year":"2005","journal-title":"BMC MEDICAL GENETICS"},{"issue":"3","key":"6_21123310","doi-asserted-by":"publisher","first-page":"827","DOI":"10.1210\/jc.2005-1862","volume":"91","year":"2006","journal-title":"Journal of Clinical Endocrinology &amp; Metabolism","ISSN":"https:\/\/id.crossref.org\/issn\/0021-972X","issn-type":"print"},{"issue":"5010","key":"7_9603112","doi-asserted-by":"publisher","first-page":"1285","DOI":"10.1126\/science.1656523","volume":"252","author":"Beratan","year":"1991","journal-title":"Science","ISSN":"https:\/\/id.crossref.org\/issn\/0036-8075","issn-type":"print"},{"key":"8_50505566","first-page":"980","volume":"10","year":"2000","journal-title":"NATURE STRUCTURAL MOLECULAR BIOLOGY"},{"issue":"9","key":"9_47079287","doi-asserted-by":"publisher","first-page":"2440","DOI":"10.1093\/hmg\/ddt639","volume":"23","year":"2014","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"key":"10_47935397","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1038\/nrc3648","volume":"14","year":"2014","journal-title":"Nature reviews. 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