| 1 | GLA, GLAD
|
| GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals
|
| Ter Huurne M, Parker BL, Liu NQ, Qian EL, Vivien C, Karavendzas K, Mills RJ, Saville JT, Abu-Bonsrah D, Wise AF, Hudson JE, Talbot AS, Finn PF, Martini PGV, Fuller M, Ricardo SD, Watt KI, Nicholls KM, Porrello ER, Elliott DA.
|
| Am J Hum Genet. Sep 7;110(9):1600-1605. doi: 10.1016/j.ajhg.2023.07.013. Epub 2023 Aug 21. 2023
|
| 2 | GLA, GLAD
|
| Chaperone Therapy in Fabry Disease.
|
| Weidemann F, Jovanovic A, Herrmann K, Vardarli I.
|
| Int J Mol Sci. Feb 8;23(3):1887. doi: 10.3390/ijms23031887. 2022
|
| 3 | GLA, GLAD
|
| α-Galactosidase a Deficiency in Fabry Disease Leads to Extensive Dysregulated Cellular Signaling Pathways in Human Podocytes.
|
| Jehn U, Bayraktar S, Pollmann S, Van Marck V, Weide T, Pavenstädt H, Brand E, Lenders M.
|
| Int J Mol Sci. Oct 20;22(21):11339. doi: 10.3390/ijms222111339. 2021
|
| 4 | GLA, GLAD
|
| Cardiomyopathy associated with the Ala143Thr variant of the α-galactosidase A gene.
|
| Valtola K, Nino-Quintero J, Hedman M, Lottonen-Raikaslehto L, Laitinen T, Maria M, Kantola I, Naukkarinen A, Laakso M, Kuusisto J.
|
| Heart. Apr;106(8):609-615. doi: 10.1136/heartjnl-2019-315933. Epub 2020 Jan 16. 2020
|
| 5 | GLA, GLAD
|
| Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.
|
| Colomba P, Nucera A, Zizzo C, Albeggiani G, Francofonte D, Iemolo F, Tuttolomondo A, Pinto A, Duro G.
|
| Clin Biochem lin Biochem. 2012 Mar 19. [Epub ahead of print] 2012
|
| 6 | GLA, GLAD
|
| Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease.
|
| Saito S, Ohno K, Sakuraba H.
|
| J Hum Genet 56(6):467-8. doi: 10.1038/jhg.2011.31. Epub 2011 Mar 17. 2011
|
| 7 | GLA, GLAD
|
| Receptor-mediated endocytosis of α-galactosidase A in human podocytes in Fabry disease.
|
| Prabakaran T, Nielsen R, Larsen JV, Sřrensen SS, Feldt-Rasmussen U, Saleem MA, Petersen CM, Verroust PJ, Christensen EI.
|
| PLoS One 6(9):e25065. Epub 2011 Sep 19. 2011
|
| 8 | GLA, GLAD
|
| Kidney histologic alterations in α-Galactosidase-deficient mice.
|
| Valbuena C, Oliveira JP, Carneiro F, Relvas S, Ganhăo M, Sá-Miranda MC, Rodrigues LG.
|
| Virchows Arch 458(4):477-86. Epub 2011 Feb 16. 2011
|
| 9 | GLA, GLAD
|
| Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
|
| Lee BH, Heo SH, Kim GH, Park JY, Kim WS, Kang DH, Choe KH, Kim WH, Yang SH, Yoo HW.
|
| J Hum Genet 55(8):512-7. Epub 2010 May 27.PMID: 20505683 2010
|
| 10 | GLA, GLAD
|
| Adipocytes participate in storage in alpha-galactosidase deficiency (Fabry disease).
|
| Hůlková H, Elleder M.
|
| J Inherit Metab Dis Inherit Metab Dis. 2010 Jul 14. [Epub ahead of print] 2010
|
| 11 | GLA, GLAD
|
| Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity.
|
| Wu JC, Ho CY, Skali H, Abichandani R, Wilcox WR, Banikazemi M, Packman S, Sims K, Solomon SD.
|
| Eur Heart J 31(9):1088-97. Epub 2010 Jan 7. 2010
|
| 12 | GLA, GLAD
|
| Downregulation of alpha-galactosidase A upregulates CD77: functional impact for Fabry nephropathy.
|
| Thomaidis T, Relle M, Golbas M, Brochhausen C, Galle PR, Beck M, Schwarting A.
|
| Kidney Int 75(4):399-407. Epub 2008 Nov 26. 2009
|
| 13 | GLA, GLAD
|
| Structural characterization of mutant alpha-galactosidases causing Fabry disease.
|
| Sugawara K, Ohno K, Saito S, Sakuraba H.
|
| J Hum Genet 53(9):812-24. Epub 2008 Jul 17. 2008
|
| 14 | GLA, GLAD
|
| Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
|
| Shimotori M, Maruyama H, Nakamura G, Suyama T, Sakamoto F, Itoh M, Miyabayashi S, Ohnishi T, Sakai N, Wataya-Kaneda M, Kubota M, Takahashi T, Mori T, Tamura K, Kageyama S, Shio N, Maeba T, Yahagi H, Tanaka M, Oka M, Sugiyama H, Sugawara T, Mori N, Tsukamoto H, Tamagaki K, Tanda S, Suzuki Y, Shinonaga C, Miyazaki J, Ishii S, Gejyo F.
|
| Hum Mutat 29(2):331. 2008
|
| 15 | GLA, GLAD
|
| Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease.
|
| Erdos M, Németh K, Tóth B, Constantin T, Rákóczi E, Ponyi A, Dajnoki A, Grubits J, Pintér I, Garzuly F, Hahn K, Bencsik K, Vécsei L, Fekete G, Maródi L.
|
| Mol Genet Metab 95(4):224-8. Epub 2008 Oct 11. 2008
|
| 16 | GLA, GLAD
|
| The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
|
| Garman SC, Garboczi DN.
|
| J Mol Biol 337(2):319-35. 2004
|
| 17 | GLA, GLAD
|
| Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.
|
| Ishii S, Nakao S, Minamikawa-Tachino R, Desnick RJ, Fan JQ.
|
| Am J Hum Genet 70(4):994-1002. 2002
|
| 18 | GLA, GLAD
|
| High overexpression of the human alpha-galactosidase A gene driven by its promoter in transgenic mice: implications for the treatment of Fabry disease.
|
| Ashley GA, Desnick RJ, Gordon RE, Gordon JW.
|
| J Investig Med 50(3):185-92. 2002
|
| 19 | GLA, GLAD
|
| Novel trinucleotide deletion in Fabry's disease.
|
| Cariolou MA, et al.
|
| Hum Genet 97 : 468-470. 1996
|
| 20 | GLA, GLAD
|
| A sensitive mutation screening strategy for Fabry disease : detection of nine mutations in the alpha-galactosidase A gene.
|
| Blanch LC, et al.
|
| Hum Mutat 8 : 38-43. 1996
|
| 21 | GLA, GLAD
|
| Fabry disease : fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.
|
| Davies JP, et al.
|
| Eur J Hum Genet 4 : 219-224. 1996
|
| 22 | GLA, GLAD
|
| A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.
|
| Miyamura N, et al.
|
| J Clin Invest 98 : 1809-1817. 1996
|
| 23 | GLA, GLAD
|
| Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease.
|
| Germain D, et al.
|
| Hum Genet 98 : 719-726. 1996
|
| 24 | GLA, GLAD
|
| Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.
|
| Madsen KM, et al.
|
| Hum Mutat 5 : 277-278. 1995
|
| 25 | GLA, GLAD
|
| Alpha-galactosidase gene mutations in Fabry disease : heterogeneous expression of mutant enzyme proteins.
|
| Okumiya T, et al.
|
| Hum Genet 95 : 557-561. 1995
|
| 26 | GLA, GLAD
|
| New point mutation (R301X) of the alpha-galactosidase. A gene causing Fabry disease.
|
| Kawanishi C, et al.
|
| Hum Mutat 6 : 186-187. 1995
|
| 27 | GLA, GLAD
|
| Molecular basis of Fabry disease : mutations and polymorphisms in the human alpha-galactosidase A gene.
|
| Eng CM, et al.
|
| Hum Mutat 3 : 103-111. 1994
|
| 28 | GLA, GLAD
|
| Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.
|
| Ploos van Amstel JK, et al.
|
| Hum Mol Genet 3 : 503-505. 1994
|
| 29 | GLA, GLAD
|
| Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
|
| Davies J, et al.
|
| Hum Mol Genet 3 : 667-669. 1994
|
| 30 | GLA, GLAD
|
| A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease.
|
| Meaney C, et al.
|
| Hum Mol Genet 3 : 1019-1020. 1994
|
| 31 | GLA, GLAD
|
| Fabry disease : twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
|
| Eng CM, et al.
|
| Hum Mol Genet 3 : 1795-1799. 1994
|
| 32 | GLA, GLAD
|
| Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
|
| Eng CM, et al.
|
| Am J Hum Genet 53 : 1186-1197. 1993
|
| 33 | GLA, GLAD
|
| Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease.
|
| Ishii S, et al.
|
| Biochem Biophys Res Commun 197 : 1585-1589. 1993
|
| 34 | GLAD
|
| Fabry disease : detection of gene rearrangements in the human alpha-galactosidase A gene multiplex PCR amplification.
|
| Kornreich R, et al.
|
| Hum Mutat 2 : 108-111. 1993
|
| 35 | GLA, GLAD
|
| Mutation analysis in patients with the typical form of Anderson-Fabry disease.
|
| Davies JP, et al.
|
| Hum Mol Genet 2 : 1051-1053. 1993
|
| 36 | GLA, GLAD
|
| An atypical variant of Fabry's disease with manifestations confined to the myocardium.
|
| von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen EG, Christomanou H, Kandolf R, Bishop DF, Desnick RJ.
|
| N Engl J Med 324(6):395-9. 1991
|
| 37 | GLA, GLAD
|
| Alpha-galactosidase A gene rearrangements causing Fabry disease.
|
| Kornreich R, et al.
|
| J Biol Chem 265 : 9319-9326. 1990
|
| 38 | GLA, GLAD
|
| A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino-acid substitution of Pro-40 by Ser.
|
| Koide T, et al.
|
| FEBS Lett 259 : 353-356; 1990
|
| 39 | GLA, GLAD
|
| Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing.
|
| Fukuhara Y, et al.
|
| Biochem Biophys Res Commun 170 : 296-300. 1990
|
| 40 | GLA, GLAD
|
| Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
|
| Sakuraba H, et al.
|
| Am J Hum Genet 47 : 784-789. 1990
|
| 41 | GLA, GLAD
|
| Fabry disease : six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
|
| Bernstein HS, et al.
|
| J Clin Invest 83 : 1390-1399. 1989
|
| 42 | GLA, GLAD
|
| Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A.
|
| Calhoun DH, et al.
|
| Proc Natl Acad Sci U S A 82 : 7364-7368. 1985
|