BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

389 related articles for article (PubMed ID: 31665721)

  • 1. Functional Characterization and Pharmacological Evaluation of a Novel GLA Missense Mutation Found in a Severely Affected Fabry Disease Family.
    Varela P; Mastroianni Kirsztajn G; Ferrer H; Aranda C; Wallbach K; Ferreira da Mata G; Moura LA; Moreira SR; Mendes C; Curiati MA; Martins AM; Bosco Pesquero J
    Nephron; 2020; 144(3):147-155. PubMed ID: 31665721
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Functional characterization of novel variants found in patients with suspected Fabry disease.
    Varela-Calais P; Nicolicht P; Paulo Martin R; Yamamoto J; D'Almeida V; Martins AM; Pesquero JB
    Clin Chim Acta; 2022 Sep; 534():156-160. PubMed ID: 35870541
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
    Ferri L; Malesci D; Fioravanti A; Bagordo G; Filippini A; Ficcadenti A; Manna R; Antuzzi D; Verrecchia E; Donati I; Mignani R; Cavicchi C; Guerrini R; Morrone A
    Clin Chim Acta; 2018 Jun; 481():25-33. PubMed ID: 29476735
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
    Ferri L; Guido C; la Marca G; Malvagia S; Cavicchi C; Fiumara A; Barone R; Parini R; Antuzzi D; Feliciani C; Zampetti A; Manna R; Giglio S; Della Valle CM; Wu X; Valenzano KJ; Benjamin R; Donati MA; Guerrini R; Genuardi M; Morrone A
    Clin Genet; 2012 Mar; 81(3):224-33. PubMed ID: 21517827
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Functional evaluation of a novel GLA causative mutation in Fabry disease.
    Li P; Zhang L; Xiong Q; Wang Z; Cui X; Zhou YA; Wang Y; Xiao H; Wu C
    Mol Genet Genomic Med; 2019 Sep; 7(9):e864. PubMed ID: 31321922
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease.
    Zhou C; Huang J; Cui G; Zeng H; Wang DW; Zhou Q
    BMC Med Genet; 2018 Dec; 19(1):219. PubMed ID: 30587147
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women.
    Veloso VSP; Ataides TL; Canziani MEF; Veloso MP; da Silva NA; Barreto DV; Pereira ERS; de Moura LAR; Barreto FC
    Nephron; 2018; 138(2):147-156. PubMed ID: 28892806
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.
    Park JY; Kim GH; Kim SS; Ko JM; Lee JJ; Yoo HW
    Exp Mol Med; 2009 Jan; 41(1):1-7. PubMed ID: 19287194
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.
    Chong Y; Kim M; Koh ES; Shin SJ; Kim HS; Chung S
    BMC Med Genet; 2016 Oct; 17(1):76. PubMed ID: 27776503
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
    Ishii S; Chang HH; Kawasaki K; Yasuda K; Wu HL; Garman SC; Fan JQ
    Biochem J; 2007 Sep; 406(2):285-95. PubMed ID: 17555407
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Computational and modeling approaches to understand the impact of the Fabry's disease causing mutation (D92Y) on the interaction with pharmacological chaperone 1-deoxygalactonojirimycin (DGJ).
    Thirumal Kumar D; Judith E; Priyadharshini Christy J; Siva R; Tayubi IA; Chakraborty C; George Priya Doss C; Zayed H
    Adv Protein Chem Struct Biol; 2019; 114():341-407. PubMed ID: 30635085
    [TBL] [Abstract][Full Text] [Related]  

  • 12. De novo mutation in a male patient with Fabry disease: a case report.
    Iemolo F; Pizzo F; Albeggiani G; Zizzo C; Colomba P; Scalia S; Bartolotta C; Duro G
    BMC Res Notes; 2014 Jan; 7():11. PubMed ID: 24398019
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease.
    Duro G; Musumeci MB; Colomba P; Zizzo C; Albeggiani G; Mastromarino V; Volpe M; Autore C
    Gene; 2014 Feb; 535(2):365-9. PubMed ID: 24140492
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
    Kobayashi M; Ohashi T; Kaneshiro E; Higuchi T; Ida H
    J Hum Genet; 2019 Jul; 64(7):695-699. PubMed ID: 30988410
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular basis of 1-deoxygalactonojirimycin arylthiourea binding to human α-galactosidase a: pharmacological chaperoning efficacy on Fabry disease mutants.
    Yu Y; Mena-Barragán T; Higaki K; Johnson JL; Drury JE; Lieberman RL; Nakasone N; Ninomiya H; Tsukimura T; Sakuraba H; Suzuki Y; Nanba E; Mellet CO; García Fernández JM; Ohno K
    ACS Chem Biol; 2014 Jul; 9(7):1460-9. PubMed ID: 24783948
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel GLA T194A variant causes Fabry disease.
    Pestana MN; Gomes da Silva F; Durães J; Silva G
    BMJ Case Rep; 2021 Mar; 14(3):. PubMed ID: 33649041
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Treatment of fabry disease: current and emerging strategies.
    Rozenfeld P; Neumann PM
    Curr Pharm Biotechnol; 2011 Jun; 12(6):916-22. PubMed ID: 21235448
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
    Benjamin ER; Flanagan JJ; Schilling A; Chang HH; Agarwal L; Katz E; Wu X; Pine C; Wustman B; Desnick RJ; Lockhart DJ; Valenzano KJ
    J Inherit Metab Dis; 2009 Jun; 32(3):424-40. PubMed ID: 19387866
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: identification of new case with novel mutation.
    Okur I; Ezgu F; Biberoglu G; Tumer L; Erten Y; Isitman M; Eminoglu FT; Hasanoglu A
    Gene; 2013 Sep; 527(1):42-7. PubMed ID: 23756194
    [TBL] [Abstract][Full Text] [Related]  

  • 20. α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.
    Siekierska A; De Baets G; Reumers J; Gallardo R; Rudyak S; Broersen K; Couceiro J; Van Durme J; Schymkowitz J; Rousseau F
    J Biol Chem; 2012 Aug; 287(34):28386-97. PubMed ID: 22773828
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.