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 *

216 related articles for article (PubMed ID: 31810863)

  • 1. A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria.
    Bustad HJ; Toska K; Schmitt C; Vorland M; Skjærven L; Kallio JP; Simonin S; Letteron P; Underhaug J; Sandberg S; Martinez A
    Mol Ther; 2020 Feb; 28(2):677-689. PubMed ID: 31810863
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.
    Bustad HJ; Kallio JP; Vorland M; Fiorentino V; Sandberg S; Schmitt C; Aarsand AK; Martinez A
    Int J Mol Sci; 2021 Jan; 22(2):. PubMed ID: 33445488
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.
    Morán-Jiménez MJ; Borrero-Corte MJ; Jara-Rubio F; García-Pastor I; Díaz-Díaz S; Castelbón-Fernandez FJ; Enríquez-de-Salamanca R; Méndez M
    Genes (Basel); 2020 Aug; 11(8):. PubMed ID: 32806544
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma.
    Molina L; Zhu J; Trépo E; Bayard Q; Amaddeo G; ; Blanc JF; Calderaro J; Ma X; Zucman-Rossi J; Letouzé E
    J Hepatol; 2022 Oct; 77(4):1038-1046. PubMed ID: 35636578
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria.
    Berger S; Stattmann M; Cicvaric A; Monje FJ; Coiro P; Hotka M; Ricken G; Hainfellner J; Greber-Platzer S; Yasuda M; Desnick RJ; Pollak DD
    Acta Neuropathol Commun; 2020 Mar; 8(1):38. PubMed ID: 32197664
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.
    Chen B; Solis-Villa C; Erwin AL; Balwani M; Nazarenko I; Phillips JD; Desnick RJ; Yasuda M
    J Inherit Metab Dis; 2019 Jan; 42(1):186-194. PubMed ID: 30740734
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Emerging therapies for acute intermittent porphyria.
    Fontanellas A; Ávila MA; Berraondo P
    Expert Rev Mol Med; 2016 Nov; 18():e17. PubMed ID: 27804912
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.
    Ulbrichova D; Schneider-Yin X; Mamet R; Saudek V; Martasek P; Minder EI; Schoenfeld N
    Blood Cells Mol Dis; 2009; 42(2):167-73. PubMed ID: 19138865
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.
    Zhang Y; Xiao H; Xiong Q; Wu C; Li P
    Int J Mol Sci; 2021 Oct; 22(20):. PubMed ID: 34681668
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.
    Yasuda M; Gan L; Chen B; Yu C; Zhang J; Gama-Sosa MA; Pollak DD; Berger S; Phillips JD; Edelmann W; Desnick RJ
    Hum Mol Genet; 2019 Jun; 28(11):1755-1767. PubMed ID: 30615115
    [TBL] [Abstract][Full Text] [Related]  

  • 11. HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review.
    Li S; Lei JJ; Dong BX; Ren Y; Yang J
    Medicine (Baltimore); 2023 Sep; 102(39):e35144. PubMed ID: 37773850
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Acute intermittent porphyria: vector optimization for gene therapy.
    Yasuda M; Domaradzki ME; Armentano D; Cheng SH; Bishop DF; Desnick RJ
    J Gene Med; 2007 Sep; 9(9):806-11. PubMed ID: 17654633
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria.
    Unzu C; Sampedro A; Mauleón I; Vanrell L; Dubrot J; de Salamanca RE; González-Aseguinolaza G; Melero I; Prieto J; Fontanellas A
    J Hepatol; 2010 Mar; 52(3):417-24. PubMed ID: 19815305
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Systemic messenger RNA as an etiological treatment for acute intermittent porphyria.
    Jiang L; Berraondo P; Jericó D; Guey LT; Sampedro A; Frassetto A; Benenato KE; Burke K; Santamaría E; Alegre M; Pejenaute Á; Kalariya M; Butcher W; Park JS; Zhu X; Sabnis S; Kumarasinghe ES; Salerno T; Kenney M; Lukacs CM; Ávila MA; Martini PGV; Fontanellas A
    Nat Med; 2018 Dec; 24(12):1899-1909. PubMed ID: 30297912
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver.
    Schmitt C; Lenglet H; Yu A; Delaby C; Benecke A; Lefebvre T; Letteron P; Paradis V; Wahlin S; Sandberg S; Harper P; Sardh E; Sandvik AK; Hov JR; Aarsand AK; Chiche L; Bazille C; Scoazec JY; To-Figueras J; Carrascal M; Abian J; Mirmiran A; Karim Z; Deybach JC; Puy H; Peoc'h K; Manceau H; Gouya L
    J Intern Med; 2018 Jul; 284(1):78-91. PubMed ID: 29498764
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Acute intermittent porphyria causes hepatic mitochondrial energetic failure in a mouse model.
    Homedan C; Laafi J; Schmitt C; Gueguen N; Lefebvre T; Karim Z; Desquiret-Dumas V; Wetterwald C; Deybach JC; Gouya L; Puy H; Reynier P; Malthièry Y
    Int J Biochem Cell Biol; 2014 Jun; 51():93-101. PubMed ID: 24727425
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria.
    Homedan C; Schmitt C; Laafi J; Gueguen N; Desquiret-Dumas V; Lenglet H; Karim Z; Gouya L; Deybach JC; Simard G; Puy H; Malthièry Y; Reynier P
    Hum Mol Genet; 2015 Sep; 24(17):5015-23. PubMed ID: 26071363
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
    Loskove Y; Yasuda M; Chen B; Nazarenko I; Cody N; Desnick RJ
    Mol Genet Metab; 2019 Nov; 128(3):352-357. PubMed ID: 30385147
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
    Fu Y; Jia J; Yue L; Yang R; Guo Y; Ni X; Shi T
    Front Pharmacol; 2019; 10():1018. PubMed ID: 31572191
    [TBL] [Abstract][Full Text] [Related]  

  • 20. High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.
    Barreda-Sánchez M; Buendía-Martínez J; Glover-López G; Carazo-Díaz C; Ballesta-Martínez MJ; López-González V; Sánchez-Soler MJ; Rodriguez-Peña L; Serrano-Antón AT; Gil-Ferrer R; Martínez-Romero MDC; Carbonell-Meseguer P; Guillén-Navarro E
    Orphanet J Rare Dis; 2019 Feb; 14(1):59. PubMed ID: 30808393
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.