| Lack of NAD(P)+ transhydrogenase activity in patients with primary adrenal insufficiency due to NNT variants. | Lack of NAD(P)+ transhydrogenase activity in patients with primary adrenal insufficiency due to NNT variants.
Francisco A, Goler AMY, Navarro CDC, Onder A, Yildiz M, Kendir Demirkol Y, Karademir Yilmaz B, Seven Menevse T, Güran T, Castilho RF. | 02/13/2024 |
| Coenzyme Q10 and nicotinamide nucleotide transhydrogenase: Sentinels for mitochondrial hydrogen peroxide signaling. | Coenzyme Q(10) and nicotinamide nucleotide transhydrogenase: Sentinels for mitochondrial hydrogen peroxide signaling.
Grayson C, Mailloux RJ. | 10/28/2023 |
| IL-1beta-associated NNT acetylation orchestrates iron-sulfur cluster maintenance and cancer immunotherapy resistance. | IL-1β-associated NNT acetylation orchestrates iron-sulfur cluster maintenance and cancer immunotherapy resistance.
Han Y, Zhang YY, Pan YQ, Zheng XJ, Liao K, Mo HY, Sheng H, Wu QN, Liu ZX, Zeng ZL, Yang W, Yuan SQ, Huang P, Ju HQ, Xu RH. | 06/7/2023 |
| Nicotinamide Nucleotide Transhydrogenase Is Essential for Adrenal Steroidogenesis: Clinical and In Vitro Lessons. | Nicotinamide Nucleotide Transhydrogenase Is Essential for Adrenal Steroidogenesis: Clinical and In Vitro Lessons.
Bodoni AF, Coeli-Lacchini FB, Gebenlian JL, Sobral LM, Garcia CB, Silva WA, Peronni KC, Ramalho LNZ, Ramalho FS, Moreira AC, de Castro M, Leopoldino AM, Antonini SRR. | 05/18/2023 |
| Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency. | Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.
Krasovec T, Sikonja J, Zerjav Tansek M, Debeljak M, Ilovar S, Trebusak Podkrajsek K, Bertok S, Tesovnik T, Kovac J, Suput Omladic J, Hartmann MF, Wudy SA, Avbelj Stefanija M, Battelino T, Kotnik P, Groselj U., Free PMC Article | 06/11/2022 |
| Nicotinamide nucleotide transhydrogenase mutation analysis in Chinese patients with thyroid dysgenesis. | Nicotinamide nucleotide transhydrogenase mutation analysis in Chinese patients with thyroid dysgenesis.
Li M, Tian W, Wang F, Yang C, Zhang L, Tang Q, Liu S, Wang F. | 04/16/2022 |
| NNT mediates redox-dependent pigmentation via a UVB- and MITF-independent mechanism. | NNT mediates redox-dependent pigmentation via a UVB- and MITF-independent mechanism.
Allouche J, Rachmin I, Adhikari K, Pardo LM, Lee JH, McConnell AM, Kato S, Fan S, Kawakami A, Suita Y, Wakamatsu K, Igras V, Zhang J, Navarro PP, Lugo CM, Noonan HR, Christie KA, Itin K, Mujahid N, Lo JA, Won CH, Evans CL, Weng QY, Wang H, Osseiran S, Lovas A, Németh I, Cozzio A, Navarini AA, Hsiao JJ, Nguyen N, Kemény LV, Iliopoulos O, Berking C, Ruzicka T, Gonzalez-José R, Bortolini MC, Canizales-Quinteros S, Acuna-Alonso V, Gallo C, Poletti G, Bedoya G, Rothhammer F, Ito S, Schiaffino MV, Chao LH, Kleinstiver BP, Tishkoff S, Zon LI, Nijsten T, Ruiz-Linares A, Fisher DE, Roider E., Free PMC Article | 01/8/2022 |
| Cellular Redox State Acts as Switch to Determine the Direction of NNT-Catalyzed Reaction in Cystic Fibrosis Cells. | Cellular Redox State Acts as Switch to Determine the Direction of NNT-Catalyzed Reaction in Cystic Fibrosis Cells.
Favia M, Atlante A., Free PMC Article | 09/11/2021 |
| Nicotinamide nucleotide transhydrogenase regulates mitochondrial metabolism in NSCLC through maintenance of Fe-S protein function. | Nicotinamide nucleotide transhydrogenase regulates mitochondrial metabolism in NSCLC through maintenance of Fe-S protein function.
Ward NP, Kang YP, Falzone A, Boyle TA, DeNicola GM., Free PMC Article | 02/20/2021 |
| LncRNA NNT-AS1 regulates the progression of lung cancer through the NNT-AS1/miR-3666/E2F2 axis. | LncRNA NNT-AS1 regulates the progression of lung cancer through the NNT-AS1/miR-3666/E2F2 axis.
Huang JW, Luo XY, Li ZH, Lang BP. | 01/2/2021 |
| Study looked at the expression of nicotinamide nucleotide transhydrogenase (NNT) and NNT-AS1 in the peripheral blood of multiple sclerosis patients to find their participation in the pathogenesis of this immune-related disorder. We detected up-regulation of NNT expression in male subjects aged over 50 compared with the corresponding control subjects. | Nicotinamide nucleotide transhydrogenase expression analysis in multiple sclerosis patients.
Eftekharian MM, Taheri M, Arsang-Jang S, Komaki A, Ghafouri-Fard S. | 02/29/2020 |
| Low NNT expression is associated with gastric cancer. | Downregulation of nicotinamide nucleotide transhydrogenase and its naturally occurring antisense RNA in gastric cancer.
Esfandi F, Taheri M, Kahaei MS, Omrani MD, Kholghi Oskooei V, Ghafouri-Fard S. | 12/7/2019 |
| NNT knockdown in adrenocortical carcinoma increased intracellular levels of oxidative stress; this resulted in a pronounced suppression of cell proliferation and higher apoptotic rates, as well as sensitization of cells to chemically induced oxidative stress. | Nicotinamide Nucleotide Transhydrogenase as a Novel Treatment Target in Adrenocortical Carcinoma.
Chortis V, Taylor AE, Doig CL, Walsh MD, Meimaridou E, Jenkinson C, Rodriguez-Blanco G, Ronchi CL, Jafri A, Metherell LA, Hebenstreit D, Dunn WB, Arlt W, Foster PA., Free PMC Article | 03/2/2019 |
| Overexpression of nicotinamide nucleotide transhydrogenase (NNT) was associated with shorter overall and disease free survival in gastric cancer. Knockdown of NNT caused significantly NADPH reduction, induced high levels of Reactive Oxygen Species and significant cell apoptosis under oxidative stress conditions such as glucose deprival and anoikis. | Nicotinamide nucleotide transhydrogenase-mediated redox homeostasis promotes tumor growth and metastasis in gastric cancer.
Li S, Zhuang Z, Wu T, Lin JC, Liu ZX, Zhou LF, Dai T, Lu L, Ju HQ., Free PMC Article | 11/10/2018 |
| Findings suggest that NNT is essential to homeostasis of NADH and NADPH pools, anomalies of which affect HIF-1alpha- and HDAC1-dependent pathways, and hence retrograde response of mitochondria. | Nicotinamide nucleotide transhydrogenase (NNT) deficiency dysregulates mitochondrial retrograde signaling and impedes proliferation.
Ho HY, Lin YT, Lin G, Wu PR, Cheng ML., Free PMC Article | 03/24/2018 |
| Study describes the fi rst structural model of the human NNT. The 3D model identifies functional and structural H-NNT key motifs and gain essential insight into the structural and functional effect of deleterious amino acid substitutions causing glucocorticoid de fi ciency and LVNC cardiomyopathy, as well as rare homozygote amino acid variations. | Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations.
Metherell LA, Guerra-Assunção JA, Sternberg MJ, David A., Free PMC Article | 11/11/2017 |
| NNT should be sequenced in all primary adrenal insufficiencies for which the most frequent etiologies have been ruled out. As NNT is involved in oxidative stress, careful follow-up is needed to evaluate mineralocorticoid biosynthesis extent, and gonadal, heart and thyroid function. | NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.
Roucher-Boulez F, Mallet-Motak D, Samara-Boustani D, Jilani H, Ladjouze A, Souchon PF, Simon D, Nivot S, Heinrichs C, Ronze M, Bertagna X, Groisne L, Leheup B, Naud-Saudreau C, Blondin G, Lefevre C, Lemarchand L, Morel Y. | 02/18/2017 |
| identified a 6.67 Mb homozygous region harboring the NNT gene in a Dutch patient presenting with familial glucocorticoid deficiency (FGD); a novel homozygous mutation (NM_012343.3: c.1259dupG) in NNT was revealed; reviewed the literature for all the reported NNT mutations and their clinical presentation | A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).
Jazayeri O, Liu X, van Diemen CC, Bakker-van Waarde WM, Sikkema-Raddatz B, Sinke RJ, Zhang J, van Ravenswaaij-Arts CM. | 12/17/2016 |
| This report of a novel NNT mutation, p.G200S, expands the phenotype of NNT mutations to include mineralocorticoid deficiency. It provides the first evidence that NNT mutations can cause oxidative stress and mitochondrial defects. | Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.
Weinberg-Shukron A, Abu-Libdeh A, Zhadeh F, Carmel L, Kogot-Levin A, Kamal L, Kanaan M, Zeligson S, Renbaum P, Levy-Lahad E, Zangen D. | 06/4/2016 |
| Data suggest mutations in nicotinamide nucleotide transhydrogenase (NNT) as contributory to left ventricular noncompaction (LVNC). | Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.
Bainbridge MN, Davis EE, Choi WY, Dickson A, Martinez HR, Wang M, Dinh H, Muzny DM, Pignatelli R, Katsanis N, Boerwinkle E, Gibbs RA, Jefferies JL., Free PMC Article | 05/21/2016 |
| NNT mRNA expression is significantly higher in visceral fat of obese patients and correlates with body weight, BMI, % body fat, visceral and sc fat area, waist and hip circumference, and fasting plasma insulin. | Nicotinamide nucleotide transhydrogenase mRNA expression is related to human obesity.
Heiker JT, Kern M, Kosacka J, Flehmig G, Stumvoll M, Shang E, Lohmann T, Dreßler M, Kovacs P, Blüher M, Klöting N. | 12/28/2013 |
| Results suggest that NNT may have a role in ROS detoxification in human adrenal glands. | Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.
Meimaridou E, Kowalczyk J, Guasti L, Hughes CR, Wagner F, Frommolt P, Nürnberg P, Mann NP, Banerjee R, Saka HN, Chapple JP, King PJ, Clark AJ, Metherell LA., Free PMC Article | 11/17/2012 |
| In the failing heart a partial loss of Nnt activity adversely impacts NADPH-dependent enzymes and the capacity to maintain membrane potential, thus contributing to a decline in bioenergetic capacity, redox regulation and antioxidant defense. | Diminished NADPH transhydrogenase activity and mitochondrial redox regulation in human failing myocardium.
Sheeran FL, Rydström J, Shakhparonov MI, Pestov NB, Pepe S. | 01/15/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article | 12/5/2010 |
| the expression of the transhydrogenase gene in subsections of the human brain showed a distribution that apparently varied as a function of neuronal density | Expression of proton-pumping nicotinamide nucleotide transhydrogenase in mouse, human brain and C elegans.
Arkblad EL, Egorov M, Shakhparonov M, Romanova L, Polzikov M, Rydström J. | 01/21/2010 |