201 related articles for article (PubMed ID: 27838491)
1. Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients.
Fratz-Berilla EJ; Breydo L; Gouya L; Puy H; Uversky VN; Ferreira GC
Biochim Biophys Acta Mol Basis Dis; 2017 Feb; 1863(2):428-439. PubMed ID: 27838491
[TBL] [Abstract][Full Text] [Related]
2. Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.
Fratz EJ; Clayton J; Hunter GA; Ducamp S; Breydo L; Uversky VN; Deybach JC; Gouya L; Puy H; Ferreira GC
Biochemistry; 2015 Sep; 54(36):5617-31. PubMed ID: 26300302
[TBL] [Abstract][Full Text] [Related]
3. Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria.
Parker CJ; Desnick RJ; Bissel MD; Bloomer JR; Singal A; Gouya L; Puy H; Anderson KE; Balwani M; Phillips JD
Mol Genet Metab; 2019 Nov; 128(3):309-313. PubMed ID: 31395332
[TBL] [Abstract][Full Text] [Related]
4. Anti-Correlation between the Dynamics of the Active Site Loop and C-Terminal Tail in Relation to the Homodimer Asymmetry of the Mouse Erythroid 5-Aminolevulinate Synthase.
Na I; Catena D; Kong MJ; Ferreira GC; Uversky VN
Int J Mol Sci; 2018 Jun; 19(7):. PubMed ID: 29958424
[TBL] [Abstract][Full Text] [Related]
5. Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans.
Astner I; Schulze JO; van den Heuvel J; Jahn D; Schubert WD; Heinz DW
EMBO J; 2005 Sep; 24(18):3166-77. PubMed ID: 16121195
[TBL] [Abstract][Full Text] [Related]
6. Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP).
Ducamp S; Schneider-Yin X; de Rooij F; Clayton J; Fratz EJ; Rudd A; Ostapowicz G; Varigos G; Lefebvre T; Deybach JC; Gouya L; Wilson P; Ferreira GC; Minder EI; Puy H
Hum Mol Genet; 2013 Apr; 22(7):1280-8. PubMed ID: 23263862
[TBL] [Abstract][Full Text] [Related]
7. X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase.
Cox TC; Bottomley SS; Wiley JS; Bawden MJ; Matthews CS; May BK
N Engl J Med; 1994 Mar; 330(10):675-9. PubMed ID: 8107717
[TBL] [Abstract][Full Text] [Related]
8. Murine erythroid 5-aminolevulinate synthase: Adenosyl-binding site Lys221 modulates substrate binding and catalysis.
Stojanovski BM; Ferreira GC
FEBS Open Bio; 2015; 5():824-31. PubMed ID: 26605136
[TBL] [Abstract][Full Text] [Related]
9. X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).
Bishop DF; Tchaikovskii V; Hoffbrand AV; Fraser ME; Margolis S
J Biol Chem; 2012 Aug; 287(34):28943-55. PubMed ID: 22740690
[TBL] [Abstract][Full Text] [Related]
10. Aspartate-279 in aminolevulinate synthase affects enzyme catalysis through enhancing the function of the pyridoxal 5'-phosphate cofactor.
Gong J; Hunter GA; Ferreira GC
Biochemistry; 1998 Mar; 37(10):3509-17. PubMed ID: 9521672
[TBL] [Abstract][Full Text] [Related]
11. 5-Aminolevulinate synthase catalysis: The catcher in heme biosynthesis.
Stojanovski BM; Hunter GA; Na I; Uversky VN; Jiang RHY; Ferreira GC
Mol Genet Metab; 2019 Nov; 128(3):178-189. PubMed ID: 31345668
[TBL] [Abstract][Full Text] [Related]
12. 5-aminolevulinate synthase: catalysis of the first step of heme biosynthesis.
Hunter GA; Ferreira GC
Cell Mol Biol (Noisy-le-grand); 2009 Feb; 55(1):102-10. PubMed ID: 19268008
[TBL] [Abstract][Full Text] [Related]
13. Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.
Peoc'h K; Nicolas G; Schmitt C; Mirmiran A; Daher R; Lefebvre T; Gouya L; Karim Z; Puy H
Mol Genet Metab; 2019 Nov; 128(3):190-197. PubMed ID: 30737140
[TBL] [Abstract][Full Text] [Related]
14. Structure of the Mitochondrial Aminolevulinic Acid Synthase, a Key Heme Biosynthetic Enzyme.
Brown BL; Kardon JR; Sauer RT; Baker TA
Structure; 2018 Apr; 26(4):580-589.e4. PubMed ID: 29551290
[TBL] [Abstract][Full Text] [Related]
15. Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.
Cotter PD; May A; Fitzsimons EJ; Houston T; Woodcock BE; al-Sabah AI; Wong L; Bishop DF
J Clin Invest; 1995 Oct; 96(4):2090-6. PubMed ID: 7560104
[TBL] [Abstract][Full Text] [Related]
16. Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria.
Bishop DF; Tchaikovskii V; Nazarenko I; Desnick RJ
Mol Med; 2013 Mar; 19(1):18-25. PubMed ID: 23348515
[TBL] [Abstract][Full Text] [Related]
17. 5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells.
Bottomley SS; Healy HM; Brandenburg MA; May BK
Am J Hematol; 1992 Oct; 41(2):76-83. PubMed ID: 1415186
[TBL] [Abstract][Full Text] [Related]
18. Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.
Cotter PD; Baumann M; Bishop DF
Proc Natl Acad Sci U S A; 1992 May; 89(9):4028-32. PubMed ID: 1570328
[TBL] [Abstract][Full Text] [Related]
19. Pyridoxine-responsive primary acquired sideroblastic anaemia. In vitro and in vivo effects of vitamin B6 on decreased 5-aminolaevulinate synthase activity.
Meier PJ; Fehr J; Meyer UA
Scand J Haematol; 1982 Nov; 29(5):421-4. PubMed ID: 7156891
[TBL] [Abstract][Full Text] [Related]
20. Structural basis for dysregulation of aminolevulinic acid synthase in human disease.
Taylor JL; Brown BL
J Biol Chem; 2022 Mar; 298(3):101643. PubMed ID: 35093382
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]