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]