169 related articles for article (PubMed ID: 31968288)
1. Mutational landscape screening of methylene tetrahydrofolate reductase to predict homocystinuria associated variants: An integrative computational approach.
Nagarajan H; Narayanaswamy S; Vetrivel U
Mutat Res; 2020; 819-820():111687. PubMed ID: 31968288
[TBL] [Abstract][Full Text] [Related]
2. Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
Burda P; Suormala T; Heuberger D; Schäfer A; Fowler B; Froese DS; Baumgartner MR
J Inherit Metab Dis; 2017 Mar; 40(2):297-306. PubMed ID: 27743313
[TBL] [Abstract][Full Text] [Related]
3. Properties and crystal structure of methylenetetrahydrofolate reductase from Thermus thermophilus HB8.
Igari S; Ohtaki A; Yamanaka Y; Sato Y; Yohda M; Odaka M; Noguchi K; Yamada K
PLoS One; 2011; 6(8):e23716. PubMed ID: 21858212
[TBL] [Abstract][Full Text] [Related]
4. Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition.
Froese DS; Kopec J; Rembeza E; Bezerra GA; Oberholzer AE; Suormala T; Lutz S; Chalk R; Borkowska O; Baumgartner MR; Yue WW
Nat Commun; 2018 Jun; 9(1):2261. PubMed ID: 29891918
[TBL] [Abstract][Full Text] [Related]
5. Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.
Urreizti R; Moya-García AA; Pino-Ángeles A; Cozar M; Langkilde A; Fanhoe U; Esteves C; Arribas J; Vilaseca MA; Pérez-Dueñas B; Pineda M; González V; Artuch R; Baldellou A; Vilarinho L; Fowler B; Ribes A; Sánchez-Jiménez F; Grinberg D; Balcells S
Clin Genet; 2010 Nov; 78(5):441-8. PubMed ID: 20236116
[TBL] [Abstract][Full Text] [Related]
6. A Computational Approach to Identify the Biophysical and Structural Aspects of Methylenetetrahydrofolate Reductase (MTHFR) Mutations (A222V, E429A, and R594Q) Leading to Schizophrenia.
Tanwar H; Sneha P; Thirumal Kumar D; Siva R; Walter CEJ; George Priya Doss C
Adv Protein Chem Struct Biol; 2017; 108():105-125. PubMed ID: 28427558
[TBL] [Abstract][Full Text] [Related]
7. Regulation of folate and methionine metabolism by multisite phosphorylation of human methylenetetrahydrofolate reductase.
Zheng Y; Ramsamooj S; Li Q; Johnson JL; Yaron TM; Sharra K; Cantley LC
Sci Rep; 2019 Mar; 9(1):4190. PubMed ID: 30862944
[TBL] [Abstract][Full Text] [Related]
8. Allosteric inhibition of MTHFR prevents futile SAM cycling and maintains nucleotide pools in one-carbon metabolism.
Bhatia M; Thakur J; Suyal S; Oniel R; Chakraborty R; Pradhan S; Sharma M; Sengupta S; Laxman S; Masakapalli SK; Bachhawat AK
J Biol Chem; 2020 Nov; 295(47):16037-16057. PubMed ID: 32934008
[TBL] [Abstract][Full Text] [Related]
9. The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase.
Goyette P; Rozen R
Hum Mutat; 2000; 16(2):132-8. PubMed ID: 10923034
[TBL] [Abstract][Full Text] [Related]
10. Insights on the structural perturbations in human MTHFR Ala222Val mutant by protein modeling and molecular dynamics.
Abhinand PA; Shaikh F; Bhakat S; Radadiya A; Bhaskar LV; Shah A; Ragunath PK
J Biomol Struct Dyn; 2016; 34(4):892-905. PubMed ID: 26273990
[TBL] [Abstract][Full Text] [Related]
11. The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation.
Liu X; Li Y; Wang M; Wang X; Zhang L; Peng T; Liang W; Wang Z; Lu H
Aging (Albany NY); 2020 Dec; 13(1):1176-1185. PubMed ID: 33290257
[TBL] [Abstract][Full Text] [Related]
12. MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature.
Levin BL; Varga E
J Genet Couns; 2016 Oct; 25(5):901-11. PubMed ID: 27130656
[TBL] [Abstract][Full Text] [Related]
13. Structural basis of S-adenosylmethionine-dependent allosteric transition from active to inactive states in methylenetetrahydrofolate reductase.
Yamada K; Mendoza J; Koutmos M
Nat Commun; 2024 Jun; 15(1):5167. PubMed ID: 38886362
[TBL] [Abstract][Full Text] [Related]
14. Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
Burda P; Schäfer A; Suormala T; Rummel T; Bürer C; Heuberger D; Frapolli M; Giunta C; Sokolová J; Vlášková H; Kožich V; Koch HG; Fowler B; Froese DS; Baumgartner MR
Hum Mutat; 2015 Jun; 36(6):611-21. PubMed ID: 25736335
[TBL] [Abstract][Full Text] [Related]
15. 5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.
Tsuji M; Takagi A; Sameshima K; Iai M; Yamashita S; Shinbo H; Furuya N; Kurosawa K; Osaka H
Brain Dev; 2011 Jun; 33(6):521-4. PubMed ID: 20850942
[TBL] [Abstract][Full Text] [Related]
16. Computational analysis for the determination of deleterious nsSNPs in human MTHFR gene.
Desai M; Chauhan JB
Comput Biol Chem; 2018 Jun; 74():20-30. PubMed ID: 29524840
[TBL] [Abstract][Full Text] [Related]
17. Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
Froese DS; Huemer M; Suormala T; Burda P; Coelho D; Guéant JL; Landolt MA; Kožich V; Fowler B; Baumgartner MR
Hum Mutat; 2016 May; 37(5):427-38. PubMed ID: 26872964
[TBL] [Abstract][Full Text] [Related]
18. Retinal Ganglion Cell Loss and Mild Vasculopathy in Methylene Tetrahydrofolate Reductase (Mthfr)-Deficient Mice: A Model of Mild Hyperhomocysteinemia.
Markand S; Saul A; Roon P; Prasad P; Martin P; Rozen R; Ganapathy V; Smith SB
Invest Ophthalmol Vis Sci; 2015 Apr; 56(4):2684-95. PubMed ID: 25766590
[TBL] [Abstract][Full Text] [Related]
19. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.
Sibani S; Christensen B; O'Ferrall E; Saadi I; Hiou-Tim F; Rosenblatt DS; Rozen R
Hum Mutat; 2000; 15(3):280-7. PubMed ID: 10679944
[TBL] [Abstract][Full Text] [Related]
20. [Molecular genetics of MTHFR: polymorphisms are not all benign].
Leclerc D; Rozen R
Med Sci (Paris); 2007 Mar; 23(3):297-302. PubMed ID: 17349292
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]