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 *

177 related articles for article (PubMed ID: 29632172)

  • 1. Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP.
    Bung N; Roy A; Chen B; Das D; Pradhan M; Yasuda M; New MI; Desnick RJ; Bulusu G
    Proc Natl Acad Sci U S A; 2018 Apr; 115(17):E4071-E4080. PubMed ID: 29632172
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Network analysis of hydroxymethylbilane synthase dynamics.
    Chakrabarty B; Das D; Bung N; Roy A; Bulusu G
    J Mol Graph Model; 2020 Sep; 99():107641. PubMed ID: 32619952
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Structural insights into E. coli porphobilinogen deaminase during synthesis and exit of 1-hydroxymethylbilane.
    Bung N; Pradhan M; Srinivasan H; Bulusu G
    PLoS Comput Biol; 2014 Mar; 10(3):e1003484. PubMed ID: 24603363
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Crystal structures of hydroxymethylbilane synthase complexed with a substrate analog: a single substrate-binding site for four consecutive condensation steps.
    Sato H; Sugishima M; Tsukaguchi M; Masuko T; Iijima M; Takano M; Omata Y; Hirabayashi K; Wada K; Hisaeda Y; Yamamoto K
    Biochem J; 2021 Mar; 478(5):1023-1042. PubMed ID: 33600566
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.
    Bustad HJ; Vorland M; Rønneseth E; Sandberg S; Martinez A; Toska K
    Biosci Rep; 2013 Aug; 33(4):. PubMed ID: 23815679
    [TBL] [Abstract][Full Text] [Related]  

  • 6. One ring closer to a closure: the crystal structure of the ES
    Bustad HJ; Christie MS; Laitaoja M; Aarsand AK; Martinez A; Jänis J; Kallio JP
    FEBS J; 2024 Feb; 291(3):510-526. PubMed ID: 37863644
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
    Clavero S; Bishop DF; Haskins ME; Giger U; Kauppinen R; Desnick RJ
    Hum Mol Genet; 2010 Feb; 19(4):584-96. PubMed ID: 19934113
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Structural insight into acute intermittent porphyria.
    Song G; Li Y; Cheng C; Zhao Y; Gao A; Zhang R; Joachimiak A; Shaw N; Liu ZJ
    FASEB J; 2009 Feb; 23(2):396-404. PubMed ID: 18936296
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Computational modeling of the catalytic mechanism of hydroxymethylbilane synthase.
    Bung N; Roy A; Priyakumar UD; Bulusu G
    Phys Chem Chem Phys; 2019 Apr; 21(15):7932-7940. PubMed ID: 30918925
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
    van Loggerenberg W; Sowlati-Hashjin S; Weile J; Hamilton R; Chawla A; Sheykhkarimli D; Gebbia M; Kishore N; Frésard L; Mustajoki S; Pischik E; Di Pierro E; Barbaro M; Floderus Y; Schmitt C; Gouya L; Colavin A; Nussbaum R; Friesema ECH; Kauppinen R; To-Figueras J; Aarsand AK; Desnick RJ; Garton M; Roth FP
    Am J Hum Genet; 2023 Oct; 110(10):1769-1786. PubMed ID: 37729906
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.
    Ramdall RB; Cunha L; Astrin KH; Katz DR; Anderson KE; Glucksman M; Bottomley SS; Desnick RJ
    Genet Med; 2000; 2(5):290-5. PubMed ID: 11399210
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
    Ulbrichova D; Hrdinka M; Saudek V; Martasek P
    FEBS J; 2009 Apr; 276(7):2106-15. PubMed ID: 19292878
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
    Solis C; Lopez-Echaniz I; Sefarty-Graneda D; Astrin KH; Desnick RJ
    Mol Med; 1999 Oct; 5(10):664-71. PubMed ID: 10602775
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function.
    Christie MS; Laitaoja M; Aarsand AK; Kallio JP; Bustad HJ
    FEBS Open Bio; 2022 Dec; 12(12):2136-2146. PubMed ID: 36115019
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria.
    Méndez M; Morán-Jiménez MJ; Gomez-Abecia S; García-Bravo M; Garrido-Astray MC; Fontanellas A; Poblete-Gutiérrez P; Frank J; Enriquez de Salamanca R
    Cell Mol Biol (Noisy-le-grand); 2009 Jul; 55(2):55-63. PubMed ID: 19656452
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Structural basis of pyrrole polymerization in human porphobilinogen deaminase.
    Pluta P; Roversi P; Bernardo-Seisdedos G; Rojas AL; Cooper JB; Gu S; Pickersgill RW; Millet O
    Biochim Biophys Acta Gen Subj; 2018 Sep; 1862(9):1948-1955. PubMed ID: 29908816
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.