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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1962 1
1963 2
1964 6
1965 1
1966 2
1967 4
1968 5
1969 6
1970 5
1971 4
1972 4
1973 5
1974 8
1975 19
1976 20
1977 11
1978 23
1979 25
1980 20
1981 22
1982 23
1983 42
1984 48
1985 62
1986 51
1987 49
1988 68
1989 51
1990 70
1991 60
1992 66
1993 77
1994 86
1995 100
1996 125
1997 105
1998 142
1999 161
2000 201
2001 174
2002 207
2003 198
2004 199
2005 200
2006 201
2007 233
2008 221
2009 227
2010 255
2011 270
2012 271
2013 285
2014 291
2015 277
2016 269
2017 269
2018 291
2019 278
2020 264
2021 285
2022 244
2023 165
2024 71

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6,717 results

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Quoted phrase not found in phrase index: "Deficiency of reductase"
Page 1
Homocysteine and Hyperhomocysteinaemia.
Zaric BL, Obradovic M, Bajic V, Haidara MA, Jovanovic M, Isenovic ER. Zaric BL, et al. Curr Med Chem. 2019;26(16):2948-2961. doi: 10.2174/0929867325666180313105949. Curr Med Chem. 2019. PMID: 29532755 Review.
Elevated Hcy levels are connected with various pathologies both in adult and child population. Causes of HHcy include genetic mutations and enzyme deficiencies in 5, 10-methylenetetrahydrofolate reductase (MTHFR) methionine synthase (MS), and cystathionine beta-synt …
Elevated Hcy levels are connected with various pathologies both in adult and child population. Causes of HHcy include genetic mutations and …
Homocysteine metabolism.
Selhub J. Selhub J. Annu Rev Nutr. 1999;19:217-46. doi: 10.1146/annurev.nutr.19.1.217. Annu Rev Nutr. 1999. PMID: 10448523 Review.
Severe hyperhomocysteinemia is due to rare genetic defects resulting in deficiencies in cystathionine beta synthase, methylenetetrahydrofolate reductase, or in enzymes involved in methyl-B12 synthesis and homocysteine methylation. Mild hyperhomocysteinemia seen in f …
Severe hyperhomocysteinemia is due to rare genetic defects resulting in deficiencies in cystathionine beta synthase, methylenetetrahy …
Mitochondrial ubiquinol oxidation is necessary for tumour growth.
Martínez-Reyes I, Cardona LR, Kong H, Vasan K, McElroy GS, Werner M, Kihshen H, Reczek CR, Weinberg SE, Gao P, Steinert EM, Piseaux R, Budinger GRS, Chandel NS. Martínez-Reyes I, et al. Nature. 2020 Sep;585(7824):288-292. doi: 10.1038/s41586-020-2475-6. Epub 2020 Jul 8. Nature. 2020. PMID: 32641834 Free PMC article.
Loss of mitochondrial complex I, II or DHODH diminished the tumour growth of AOX-expressing cancer cells deficient in mitochondrial complex III, which highlights the necessity of ubiquinone as an electron acceptor for tumour growth. ...
Loss of mitochondrial complex I, II or DHODH diminished the tumour growth of AOX-expressing cancer cells deficient in mitochondrial c …
Mitochondrial myopathies.
DiMauro S, Bonilla E, Zeviani M, Servidei S, DeVivo DC, Schon EA. DiMauro S, et al. J Inherit Metab Dis. 1987;10 Suppl 1:113-28. doi: 10.1007/BF01812852. J Inherit Metab Dis. 1987. PMID: 2824920 Review.
The mitochondrial myopathies or encephalomyopathies with known biochemical defects can be divided into 5 groups: (1) defects of mitochondrial transport, such as CPT deficiency or carnitine deficiencies; (2) defects of substrate utilization, such as PDHC deficienc …
The mitochondrial myopathies or encephalomyopathies with known biochemical defects can be divided into 5 groups: (1) defects of mitochondria …
Folic acid.
Donnelly JG. Donnelly JG. Crit Rev Clin Lab Sci. 2001 Jun;38(3):183-223. doi: 10.1080/20014091084209. Crit Rev Clin Lab Sci. 2001. PMID: 11451208 Review.
Folate deficiency has also been implicated in disorders associated with neural tube defects. ...Recently, common polymorphisms have been discovered in several genes associated with folate pathways that may play a role in diseases associated with folate deficiency, p …
Folate deficiency has also been implicated in disorders associated with neural tube defects. ...Recently, common polymorphisms have b …
Inhibition of DHCR24 activates LXRα to ameliorate hepatic steatosis and inflammation.
Zhou E, Ge X, Nakashima H, Li R, van der Zande HJP, Liu C, Li Z, Müller C, Bracher F, Mohammed Y, de Boer JF, Kuipers F, Guigas B, Glass CK, Rensen PCN, Giera M, Wang Y. Zhou E, et al. EMBO Mol Med. 2023 Aug 7;15(8):e16845. doi: 10.15252/emmm.202216845. Epub 2023 Jun 26. EMBO Mol Med. 2023. PMID: 37357756 Free PMC article.
Desmosterol, which is converted by delta24-dehydrocholesterol reductase (DHCR24) into cholesterol, is a potent endogenous LXR agonist with anti-inflammatory properties. ...Flow cytometry showed that SH42 decreases liver inflammation by preventing Kupffer cell activation an …
Desmosterol, which is converted by delta24-dehydrocholesterol reductase (DHCR24) into cholesterol, is a potent endogenous LXR agonist …
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M; E-HOD Consortium. Yverneau M, et al. J Inherit Metab Dis. 2022 Jul;45(4):848-861. doi: 10.1002/jimd.12504. Epub 2022 May 9. J Inherit Metab Dis. 2022. PMID: 35460084 Free article.
MTHFR deficiency is a severe inborn error of metabolism leading to impairment of the remethylation of homocysteine to methionine. ...Logistic regression analysis was used to identify predictive factors of severe neurodevelopmental outcome in a broader set of patients with …
MTHFR deficiency is a severe inborn error of metabolism leading to impairment of the remethylation of homocysteine to methionine. ... …
The role of DHCR24 in the pathogenesis of AD: re-cognition of the relationship between cholesterol and AD pathogenesis.
Bai X, Mai M, Yao K, Zhang M, Huang Y, Zhang W, Guo X, Xu Y, Zhang Y, Qurban A, Duan L, Bu J, Zhang J, Wu J, Zhao Y, Yuan X, Zu H. Bai X, et al. Acta Neuropathol Commun. 2022 Mar 16;10(1):35. doi: 10.1186/s40478-022-01338-3. Acta Neuropathol Commun. 2022. PMID: 35296367 Free PMC article. Review.
Previous studies show that 3beta-hydroxysterol-delta24 reductase (DHCR24) has a remarked decline in the brain of AD patients. ...Therefore, based on previous data and research on DHCR24, we suppose that the brain cholesterol deficiency/loss might be involved in the …
Previous studies show that 3beta-hydroxysterol-delta24 reductase (DHCR24) has a remarked decline in the brain of AD patients. ...Ther …
Biliverdin Reductase-A Deficiency Brighten and Sensitize Biliverdin-binding Chromoproteins.
Kobachi K, Kuno S, Sato S, Sumiyama K, Matsuda M, Terai K. Kobachi K, et al. Cell Struct Funct. 2020 Aug 21;45(2):131-141. doi: 10.1247/csf.20010. Epub 2020 Jun 25. Cell Struct Funct. 2020. PMID: 32581154 Free PMC article.
The dimness of iRFP is at least partly due to rapid reduction of BV by biliverdin reductase-A (BLVRA). Here, we established biliverdin reductase-a knockout (Blvra(-/-)) mice to increase the intracellular BV concentration and, thereby, to enhance iRFP fluorescence in …
The dimness of iRFP is at least partly due to rapid reduction of BV by biliverdin reductase-A (BLVRA). Here, we established biliverdi …
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.
Shintaku J, Pernice WM, Eyaid W, Gc JB, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DM, Blakely EL, Donaldson A, van de Laar I, Leu CS, Marti R, Frank J, Tanji K, Koolen DA, Rodenburg RJ, Chinnery PF, Smeets HJM, Gorman GS, Bonnen PE, Taylor RW, Hirano M. Shintaku J, et al. J Clin Invest. 2022 Jul 1;132(13):e145660. doi: 10.1172/JCI145660. J Clin Invest. 2022. PMID: 35617047 Free PMC article.
Among the most frequent causes of MDDS are defects in nucleoside/nucleotide metabolism, which is critical for synthesis and homeostasis of the deoxynucleoside triphosphate (dNTP) substrates of mtDNA replication. A central enzyme for generating dNTPs is ribonucleotide reductase …
Among the most frequent causes of MDDS are defects in nucleoside/nucleotide metabolism, which is critical for synthesis and homeostasis of t …
6,717 results