BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

230 related articles for article (PubMed ID: 28874591)

  • 1. Mutation in human
    Yien YY; Ducamp S; van der Vorm LN; Kardon JR; Manceau H; Kannengiesser C; Bergonia HA; Kafina MD; Karim Z; Gouya L; Baker TA; Puy H; Phillips JD; Nicolas G; Paw BH
    Proc Natl Acad Sci U S A; 2017 Sep; 114(38):E8045-E8052. PubMed ID: 28874591
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The ubiquitous mitochondrial protein unfoldase CLPX regulates erythroid heme synthesis by control of iron utilization and heme synthesis enzyme activation and turnover.
    Rondelli CM; Perfetto M; Danoff A; Bergonia H; Gillis S; O'Neill L; Jackson L; Nicolas G; Puy H; West R; Phillips JD; Yien YY
    J Biol Chem; 2021 Aug; 297(2):100972. PubMed ID: 34280433
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
    To-Figueras J; Ducamp S; Clayton J; Badenas C; Delaby C; Ged C; Lyoumi S; Gouya L; de Verneuil H; Beaumont C; Ferreira GC; Deybach JC; Herrero C; Puy H
    Blood; 2011 Aug; 118(6):1443-51. PubMed ID: 21653323
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The role of ClpX in erythropoietic protoporphyria.
    Whitman JC; Paw BH; Chung J
    Hematol Transfus Cell Ther; 2018; 40(2):182-188. PubMed ID: 30057992
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria.
    Barman-Aksözen J; Halloy F; Iyer PS; Schümperli D; Minder AE; Hall J; Minder EI; Schneider-Yin X
    Mol Genet Metab; 2019 Nov; 128(3):304-308. PubMed ID: 31076252
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Mitochondrial ClpX Activates a Key Enzyme for Heme Biosynthesis and Erythropoiesis.
    Kardon JR; Yien YY; Huston NC; Branco DS; Hildick-Smith GJ; Rhee KY; Paw BH; Baker TA
    Cell; 2015 May; 161(4):858-67. PubMed ID: 25957689
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Heme-dependent recognition of 5-aminolevulinate synthase by the human mitochondrial molecular chaperone ClpX.
    Nomura K; Kitagawa Y; Aihara M; Ohki Y; Furuyama K; Hirokawa T
    FEBS Lett; 2021 Dec; 595(24):3019-3029. PubMed ID: 34704252
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria.
    Phillips J; Farrell C; Wang Y; Singal AK; Anderson K; Balwani M; Bissell M; Bonkovsky H; Seay T; Paw B; Desnick R; Bloomer J
    Mol Genet Metab; 2019 Nov; 128(3):391-395. PubMed ID: 30391163
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Expression of murine 5-aminolevulinate synthase variants causes protoporphyrin IX accumulation and light-induced mammalian cell death.
    Fratz EJ; Hunter GA; Ferreira GC
    PLoS One; 2014; 9(4):e93078. PubMed ID: 24718052
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
    Weiss Y; Balwani M; Chen B; Yasuda M; Nazarenko I; Desnick RJ
    Mol Genet Metab; 2019 Nov; 128(3):358-362. PubMed ID: 30454868
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Acute hepatic and erythropoietic porphyrias: from ALA synthases 1 and 2 to new molecular bases and treatments.
    Manceau H; Gouya L; Puy H
    Curr Opin Hematol; 2017 May; 24(3):198-207. PubMed ID: 28118224
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hematologic aspects of the porphyrias.
    Sassa S
    Int J Hematol; 2000 Jan; 71(1):1-17. PubMed ID: 10729988
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability.
    Barman-Aksözen J; Minder EI; Schubiger C; Biolcati G; Schneider-Yin X
    Blood Cells Mol Dis; 2015 Jan; 54(1):71-7. PubMed ID: 25179834
    [TBL] [Abstract][Full Text] [Related]  

  • 19. CLPP-Null Eukaryotes with Excess Heme Biosynthesis Show Reduced L-arginine Levels, Probably via CLPX-Mediated OAT Activation.
    Key J; Gispert S; Kandi AR; Heinz D; Hamann A; Osiewacz HD; Meierhofer D; Auburger G
    Biomolecules; 2024 Feb; 14(2):. PubMed ID: 38397478
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Biosynthesis of delta-aminolevulinic acid and the regulation of heme formation by immature erythroid cells in man.
    Gardner LC; Smith SJ; Cox TM
    J Biol Chem; 1991 Nov; 266(32):22010-8. PubMed ID: 1939222
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.