108 related articles for article (PubMed ID: 24847004)
1. Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
Houten SM; Denis S; Te Brinke H; Jongejan A; van Kampen AH; Bradley EJ; Baas F; Hennekam RC; Millington DS; Young SP; Frazier DM; Gucsavas-Calikoglu M; Wanders RJ
Hum Mol Genet; 2014 Sep; 23(18):5009-16. PubMed ID: 24847004
[TBL] [Abstract][Full Text] [Related]
2. Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.
Pomerantz DJ; Ferdinandusse S; Cogan J; Cooper DN; Reimschisel T; Robertson A; Bican A; McGregor T; Gauthier J; Millington DS; Andrae JLW; Tschannen MR; Helbling DC; Demos WM; Denis S; Wanders RJA; Newman JN; Hamid R; Phillips JA;
Am J Med Genet A; 2018 Mar; 176(3):692-698. PubMed ID: 29388319
[TBL] [Abstract][Full Text] [Related]
3. Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology.
Murray GC; Bais P; Hatton CL; Tadenev ALD; Hoffmann BR; Stodola TJ; Morelli KH; Pratt SL; Schroeder D; Doty R; Fiehn O; John SWM; Bult CJ; Cox GA; Burgess RW
Hum Mol Genet; 2022 Nov; 31(23):4055-4074. PubMed ID: 35796562
[TBL] [Abstract][Full Text] [Related]
4. Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.
Tort F; Ugarteburu O; Torres MA; García-Villoria J; Girós M; Ruiz A; Ribes A
Pediatrics; 2016 Nov; 138(5):. PubMed ID: 27940755
[TBL] [Abstract][Full Text] [Related]
5. Mitochondrial NAD kinase in health and disease.
Zhang R; Zhang K
Redox Biol; 2023 Apr; 60():102613. PubMed ID: 36689815
[TBL] [Abstract][Full Text] [Related]
6. Mitochondrial 2,4-dienoyl-CoA reductase deficiency in mice results in severe hypoglycemia with stress intolerance and unimpaired ketogenesis.
Miinalainen IJ; Schmitz W; Huotari A; Autio KJ; Soininen R; Ver Loren van Themaat E; Baes M; Herzig KH; Conzelmann E; Hiltunen JK
PLoS Genet; 2009 Jul; 5(7):e1000543. PubMed ID: 19578400
[TBL] [Abstract][Full Text] [Related]
7. Mitochondrial NADP
Tran DH; Kesavan R; Rion H; Soflaee MH; Solmonson A; Bezwada D; Vu HS; Cai F; Phillips JA; DeBerardinis RJ; Hoxhaj G
Nat Metab; 2021 Apr; 3(4):571-585. PubMed ID: 33833463
[TBL] [Abstract][Full Text] [Related]
8. Crystal structure of human NADK2 reveals a dimeric organization and active site occlusion by lysine acetylation.
Mary C; Soflaee MH; Kesavan R; Gelin M; Brown H; Zacharias G; Mathews TP; Lemoff A; Lionne C; Labesse G; Hoxhaj G
Mol Cell; 2022 Sep; 82(17):3299-3311.e8. PubMed ID: 35868311
[TBL] [Abstract][Full Text] [Related]
9. Mitochondrial NADP(H) generation is essential for proline biosynthesis.
Zhu J; Schwörer S; Berisa M; Kyung YJ; Ryu KW; Yi J; Jiang X; Cross JR; Thompson CB
Science; 2021 May; 372(6545):968-972. PubMed ID: 33888598
[TBL] [Abstract][Full Text] [Related]
10. Mitochondrial 2,4-dienoyl-CoA reductase (Decr) deficiency and impairment of thermogenesis in mouse brown adipose tissue.
Mäkelä AM; Hohtola E; Miinalainen IJ; Autio JA; Schmitz W; Niemi KJ; Hiltunen JK; Autio KJ
Sci Rep; 2019 Aug; 9(1):12038. PubMed ID: 31427678
[TBL] [Abstract][Full Text] [Related]
11. NADK2, an Arabidopsis chloroplastic NAD kinase, plays a vital role in both chlorophyll synthesis and chloroplast protection.
Chai MF; Chen QJ; An R; Chen YM; Chen J; Wang XC
Plant Mol Biol; 2005 Nov; 59(4):553-64. PubMed ID: 16244906
[TBL] [Abstract][Full Text] [Related]
12. Function of human mitochondrial 2,4-dienoyl-CoA reductase and rat monofunctional Delta3-Delta2-enoyl-CoA isomerase in beta-oxidation of unsaturated fatty acids.
Gurvitz A; Wabnegger L; Yagi AI; Binder M; Hartig A; Ruis H; Hamilton B; Dawes IW; Hiltunen JK; Rottensteiner H
Biochem J; 1999 Dec; 344 Pt 3(Pt 3):903-14. PubMed ID: 10585880
[TBL] [Abstract][Full Text] [Related]
13. Molecular cloning and characterization of the human mitochondrial 2,4-dienoyl-CoA reductase gene (DECR).
Helander HM; Koivuranta KT; Horelli-Kuitunen N; Palvimo JJ; Palotie A; Hiltunen JK
Genomics; 1997 Nov; 46(1):112-9. PubMed ID: 9403065
[TBL] [Abstract][Full Text] [Related]
14. Structure of human NADK2 reveals atypical assembly and regulation of NAD kinases from animal mitochondria.
Du J; Estrella M; Solorio-Kirpichyan K; Jeffrey PD; Korennykh A
Proc Natl Acad Sci U S A; 2022 Jun; 119(26):e2200923119. PubMed ID: 35733246
[TBL] [Abstract][Full Text] [Related]
15. Genetic basis of hyperlysinemia.
Houten SM; Te Brinke H; Denis S; Ruiter JP; Knegt AC; de Klerk JB; Augoustides-Savvopoulou P; Häberle J; Baumgartner MR; Coşkun T; Zschocke J; Sass JO; Poll-The BT; Wanders RJ; Duran M
Orphanet J Rare Dis; 2013 Apr; 8():57. PubMed ID: 23570448
[TBL] [Abstract][Full Text] [Related]
16. [2,4-Dienoyl-CoA reductases: from discovery toward pathophysiological significance].
Kimura C; Mizugaki M; Yamanaka H; Fujino M; Morishima T
Nihon Rinsho; 2004 Aug; 62(8):1577-83. PubMed ID: 15344554
[TBL] [Abstract][Full Text] [Related]
17. Expression, purification, and characterization of His-tagged human mitochondrial 2,4-dienoyl-CoA reductase.
Chu X; Yu W; Chen G; Li D
Protein Expr Purif; 2003 Oct; 31(2):292-7. PubMed ID: 14550650
[TBL] [Abstract][Full Text] [Related]
18. The mitochondrial NAD kinase functions as a major metabolic regulator upon increased energy demand.
Kim H; Fu Z; Yang Z; Song Z; Shamsa EH; Yumnamcha T; Sun S; Liu W; Ibrahim AS; Qi NR; Zhang R; Zhang K
Mol Metab; 2022 Oct; 64():101562. PubMed ID: 35944895
[TBL] [Abstract][Full Text] [Related]
19. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
Carroll CJ; Isohanni P; Pöyhönen R; Euro L; Richter U; Brilhante V; Götz A; Lahtinen T; Paetau A; Pihko H; Battersby BJ; Tyynismaa H; Suomalainen A
J Med Genet; 2013 Mar; 50(3):151-9. PubMed ID: 23315540
[TBL] [Abstract][Full Text] [Related]
20. Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.
Tondo M; Calpena E; Arriola G; Sanz P; Martorell L; Ormazabal A; Castejon E; Palacin M; Ugarte M; Espinos C; Perez B; Perez-Dueñas B; Pérez-Cerda C; Artuch R
Mol Genet Metab; 2013 Nov; 110(3):231-6. PubMed ID: 23890588
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
