204 related articles for article (PubMed ID: 31613176)
1. Translational readthrough of
Lombardi S; Ferrarese M; Marchi S; Pinton P; Pinotti M; Bernardi F; Branchini A
RNA Biol; 2020 Feb; 17(2):254-263. PubMed ID: 31613176
[TBL] [Abstract][Full Text] [Related]
2. Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency.
Branchini A; Ferrarese M; Lombardi S; Mari R; Bernardi F; Pinotti M
J Thromb Haemost; 2016 Oct; 14(10):1994-2000. PubMed ID: 27513915
[TBL] [Abstract][Full Text] [Related]
3. Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family.
Peng Y; Pan M; Wang Y; Shen Z; Xu J; Xiong F; Xiao H; Miao Y
Ren Fail; 2024 Dec; 46(2):2362391. PubMed ID: 38847497
[TBL] [Abstract][Full Text] [Related]
4. Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Shabbeer J; Yasuda M; Benson SD; Desnick RJ
Hum Genomics; 2006 Mar; 2(5):297-309. PubMed ID: 16595074
[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. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
Yasuda M; Shabbeer J; Benson SD; Maire I; Burnett RM; Desnick RJ
Hum Mutat; 2003 Dec; 22(6):486-92. PubMed ID: 14635108
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
Lukas J; Scalia S; Eichler S; Pockrandt AM; Dehn N; Cozma C; Giese AK; Rolfs A
Hum Mutat; 2016 Jan; 37(1):43-51. PubMed ID: 26415523
[TBL] [Abstract][Full Text] [Related]
10. Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X; Ouyang Y; Wang Z; Ren H; Shen P; Wang W; Xu Y; Ni L; Yu X; Chen X; Zhang W; Yang L; Li X; Xu J; Chen N
PLoS One; 2016; 11(8):e0161330. PubMed ID: 27560961
[TBL] [Abstract][Full Text] [Related]
11. Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations.
Branchini A; Ferrarese M; Campioni M; Castaman G; Mari R; Bernardi F; Pinotti M
Blood; 2017 Apr; 129(16):2303-2307. PubMed ID: 28196793
[TBL] [Abstract][Full Text] [Related]
12. Serum starvation enhances nonsense mutation readthrough.
Wittenstein A; Caspi M; David Y; Shorer Y; Nadar-Ponniah PT; Rosin-Arbesfeld R
J Mol Med (Berl); 2019 Dec; 97(12):1695-1710. PubMed ID: 31786671
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
Ferreira S; Ortiz A; Germain DP; Viana-Baptista M; Caldeira-Gomes A; Camprecios M; Fenollar-Cortés M; Gallegos-Villalobos Á; Garcia D; García-Robles JA; Egido J; Gutiérrez-Rivas E; Herrero JA; Mas S; Oancea R; Péres P; Salazar-Martín LM; Solera-Garcia J; Alves H; Garman SC; Oliveira JP
Mol Genet Metab; 2015 Feb; 114(2):248-58. PubMed ID: 25468652
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. [alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)].
Okumiya T; Takata T; Sasaki M; Sakuraba H
Rinsho Byori; 1997 Feb; 45(2):127-35. PubMed ID: 9120996
[TBL] [Abstract][Full Text] [Related]
17. Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM; Goldfarb LG; Park KY; Kaneski C; Jeffries N; Litvak S; Nagle JW; Schiffmann R
Clin Genet; 2001 Jul; 60(1):46-51. PubMed ID: 11531969
[TBL] [Abstract][Full Text] [Related]
18. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
Garman SC; Garboczi DN
J Mol Biol; 2004 Mar; 337(2):319-35. PubMed ID: 15003450
[TBL] [Abstract][Full Text] [Related]
19. Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
Lukas J; Giese AK; Markoff A; Grittner U; Kolodny E; Mascher H; Lackner KJ; Meyer W; Wree P; Saviouk V; Rolfs A
PLoS Genet; 2013; 9(8):e1003632. PubMed ID: 23935525
[TBL] [Abstract][Full Text] [Related]
20. Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.
Lombardi S; Testa MF; Pinotti M; Branchini A
Int J Mol Sci; 2020 Dec; 21(24):. PubMed ID: 33322589
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]