These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 21570665)

  • 1. Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase: molecular basis of congenital erythropoietic porphyria.
    Fortian A; Castaño D; Gonzalez E; Laín A; Falcon-Perez JM; Millet O
    Adv Protein Chem Struct Biol; 2011; 83():43-74. PubMed ID: 21570665
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability.
    Fortian A; Castaño D; Ortega G; Laín A; Pons M; Millet O
    Biochemistry; 2009 Jan; 48(2):454-61. PubMed ID: 19099412
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria.
    ben Bdira F; González E; Pluta P; Laín A; Sanz-Parra A; Falcon-Perez JM; Millet O
    Hum Mol Genet; 2014 Nov; 23(21):5805-13. PubMed ID: 24925316
    [TBL] [Abstract][Full Text] [Related]  

  • 4. C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
    Frank J; Wang X; Lam HM; Aita VM; Jugert FK; Goerz G; Merk HF; Poh-Fitzpatrick MB; Christiano AM
    Ann Hum Genet; 1998 May; 62(Pt 3):225-30. PubMed ID: 9803266
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R.
    Fortian A; González E; Castaño D; Falcon-Perez JM; Millet O
    J Biol Chem; 2011 Apr; 286(15):13127-33. PubMed ID: 21343304
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
    Fontanellas A; Bensidhoum M; Enriquez de Salamanca R; Moruno Tirado A; de Verneuil H; Ged C
    Eur J Hum Genet; 1996; 4(5):274-82. PubMed ID: 8946173
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria.
    Urquiza P; Laín A; Sanz-Parra A; Moreno J; Bernardo-Seisdedos G; Dubus P; González E; Gutiérrez-de-Juan V; García S; Eraña H; San Juan I; Macías I; Ben Bdira F; Pluta P; Ortega G; Oyarzábal J; González-Muñiz R; Rodríguez-Cuesta J; Anguita J; Díez E; Blouin JM; de Verneuil H; Mato JM; Richard E; Falcón-Pérez JM; Castilla J; Millet O
    Sci Transl Med; 2018 Sep; 10(459):. PubMed ID: 30232228
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A knock-in mouse model of congenital erythropoietic porphyria.
    Ged C; Mendez M; Robert E; Lalanne M; Lamrissi-Garcia I; Costet P; Daniel JY; Dubus P; Mazurier F; Moreau-Gaudry F; de Verneuil H
    Genomics; 2006 Jan; 87(1):84-92. PubMed ID: 16314073
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.
    Shady AA; Colby BR; Cunha LF; Astrin KH; Bishop DF; Desnick RJ
    Br J Haematol; 2002 Jun; 117(4):980-7. PubMed ID: 12060141
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Congenital erythropoietic porphyria].
    Tanigawa K; Takamura N; Yamashita S
    Nihon Rinsho; 1995 Jun; 53(6):1422-6. PubMed ID: 7616657
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Correction of the enzyme defect in cultured congenital erythropoietic porphyria disease cells by retrovirus-mediated gene transfer.
    Moreau-Gaudry F; Ged C; Barbot C; Mazurier F; Boiron JM; Bensidhoum M; Reiffers J; de Verneuil H
    Hum Gene Ther; 1995 Jan; 6(1):13-20. PubMed ID: 7703283
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Modeling of congenital erythropoietic porphyria by RNA interference: a new tool for preclinical gene therapy evaluation.
    Robert-Richard E; Lalanne M; Lamrissi-Garcia I; Guyonnet-Duperat V; Richard E; Pitard V; Mazurier F; Moreau-Gaudry F; Ged C; de Verneuil H
    J Gene Med; 2010 Aug; 12(8):637-46. PubMed ID: 20586119
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular genetics of congenital erythropoietic porphyria.
    Desnick RJ; Glass IA; Xu W; Solis C; Astrin KH
    Semin Liver Dis; 1998; 18(1):77-84. PubMed ID: 9516681
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
    Xu W; Astrin KH; Desnick RJ
    Hum Mutat; 1996; 7(3):187-92. PubMed ID: 8829650
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of two new mutations in congenital erythropoietic porphyria.
    Bensidhoum M; Ged C; Hombrados I; Moreau-Gaudry F; Hift RS; Meissner P; Sturrock ED; de Verneuil H
    Eur J Hum Genet; 1995; 3(2):102-7. PubMed ID: 7552139
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria.
    Mazurier F; Moreau-Gaudry F; Salesse S; Barbot C; Ged C; Reiffers J; de Verneuil H
    J Inherit Metab Dis; 1997 Jun; 20(2):247-57. PubMed ID: 9211197
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.
    Blouin JM; Duchartre Y; Costet P; Lalanne M; Ged C; Lain A; Millet O; de Verneuil H; Richard E
    Proc Natl Acad Sci U S A; 2013 Nov; 110(45):18238-43. PubMed ID: 24145442
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.
    Bishop DF; Johansson A; Phelps R; Shady AA; Ramirez MC; Yasuda M; Caro A; Desnick RJ
    Am J Hum Genet; 2006 Apr; 78(4):645-58. PubMed ID: 16532394
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.
    Takamura N; Hombrados I; Tanigawa K; Namba H; Nagayama Y; de Verneuil H; Yamashita S
    Am J Med Genet; 1997 Jun; 70(3):299-302. PubMed ID: 9188670
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation.
    Clavero S; Bishop DF; Giger U; Haskins ME; Desnick RJ
    Mol Med; 2010; 16(9-10):381-8. PubMed ID: 20485863
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.