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The enzymatic assay was validated in PBMC samples from a mouse model of NNT absence. Additionally, the PBMC samples were evaluated for NNT expression by western blotting and reverse transcription quantitative polymerase chain reaction and for mitochondrial oxygen consumption.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>NNT activity was undetectable (&amp;lt;4% of that of healthy controls) in PBMC samples from patients, independent of the pathogenic genetic variant. In patients' parents, NNT activity was approximately half that of the healthy controls. Mature NNT protein expression was lower in patients than in the control groups, while mRNA levels varied widely among genotypes. Moreover, pathogenic NNT variants did not impair mitochondrial bioenergetic function in PBMCs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The manifestation of PAI in NNT-mutated patients is associated with a complete lack of NNT activity. Evaluation of NNT activity can be useful to characterize disease-causing NNT variants.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ejendo\/lvae011","type":"journal-article","created":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T15:15:26Z","timestamp":1705590926000},"page":"130-138","source":"Crossref","is-referenced-by-count":3,"title":["Lack of NAD(P)+ transhydrogenase activity in patients with primary adrenal insufficiency due to\n                    <i>NNT<\/i>\n                    variants"],"prefix":"10.1093","volume":"190","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6729-8807","authenticated-orcid":false,"given":"Annelise","family":"Francisco","sequence":"first","affiliation":[{"name":"Department of Pathology, School of Medical Sciences, University of Campinas (UNICAMP) , Campinas, SP 13083-888 ,","place":["Brazil"]},{"name":"Department of Biochemistry, Faculty of Medicine, Genetic and Metabolic Diseases Research Center, Marmara University Faculty of Medicine , Istanbul 34854 ,","place":["Turkey"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayse Mine Yilmaz","family":"Goler","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Medicine, Genetic and Metabolic Diseases Research Center, Marmara University Faculty of Medicine , Istanbul 34854 ,","place":["Turkey"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia Daniele Carvalho","family":"Navarro","sequence":"additional","affiliation":[{"name":"Department of Pathology, School of Medical Sciences, University of Campinas (UNICAMP) , Campinas, SP 13083-888 ,","place":["Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5730-3198","authenticated-orcid":false,"given":"Asan","family":"Onder","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes, Medeniyet University Goztepe Training and Research Hospital , Istanbul 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University Faculty of Medicine , Istanbul 34854 ,","place":["Turkey"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1902-7057","authenticated-orcid":false,"given":"Tuba","family":"Seven Menevse","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes, Marmara University Faculty of Medicine , Istanbul 34854 ,","place":["Turkey"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2658-6866","authenticated-orcid":false,"given":"T\u00fclay","family":"G\u00fcran","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes, Marmara University Faculty of Medicine , Istanbul 34854 ,","place":["Turkey"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2338-8717","authenticated-orcid":false,"given":"Roger 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