Citations for
1GLA
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
2GLA
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
3GLA
The molecular basis of pharmacological chaperoning in human α-galactosidase.
Guce AI, Clark NE, Rogich JJ, Garman SC.
Chem Biol 18(12):1521-6. 2011
4GLA
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
5GLA
Genetic analysis of lysosomal alpha-galactosidase A gene in sporadic Parkinson's disease.
Wu G, Pang S, Feng X, Zhang A, Li J, Gu K, Huang J, Dong H, Yan B.
Neurosci Lett 500(1):31-5. Epub 2011 Jun 12. 2011
6GLA
Decreased expression of lysosomal alpha-galactosiase A gene in sporadic Parkinson's disease.
Wu G, Huang J, Feng X, Zhang A, Li J, Pang S, Gu K, Dong H, Zhang J, Gao H, Yan B.
Neurochem Res 36(10):1939-44. Epub 2011 Jun 5. 2011
7GLA
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
8GLA
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
9GLA
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
10GLA
Quantification of α-galactosidase activity in intact leukocytes.
Hölzl MA, Gärtner M, Kovarik JJ, Hofer J, Bernheimer H, Sunder-Plassmann G, Zlabinger GJ.
Clin Chim Acta 411(21-22):1666-70. Epub 2010 Jun 25. 2010
11GLA
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
12GLA
Catalytic mechanism of human alpha-galactosidase.
Guce AI, Clark NE, Salgado EN, Ivanen DR, Kulminskaya AA, Brumer H 3rd, Garman SC.
J Biol Chem 285(6):3625-32. Epub 2009 Nov 25. 2010
13GLA
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
14GLA
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
15GLA
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
16GLA
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
17GLA
The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
Garman SC, Garboczi DN.
J Mol Biol 337(2):319-35. 2004
18CHST6, COL8A2, GLA, GSN, KRT12, KRT3, M1S1, STS, TGFBI
The molecular genetics of the corneal dystrophies--current status.
Klintworth GK.
Front Biosci 8:d687-713. Review. 2003
19GLA
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
20GLA
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
21GLA
Novel trinucleotide deletion in Fabry's disease.
Cariolou MA, et al.
Hum Genet 97 : 468-470. 1996
22GLA
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
23GLA
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
24GLA
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
25GLA
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
26GLA
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
27GLA
Alpha-galactosidase gene mutations in Fabry disease : heterogeneous expression of mutant enzyme proteins.
Okumiya T, et al.
Hum Genet 95 : 557-561. 1995
28GLA
New point mutation (R301X) of the alpha-galactosidase. A gene causing Fabry disease.
Kawanishi C, et al.
Hum Mutat 6 : 186-187. 1995
29GLA
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
30GLA
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
31GLA
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
32GLA
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
33GLA
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
34GLA
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
35GLA
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
36GLA
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
37GLA
Mutation analysis in patients with the typical form of Anderson-Fabry disease.
Davies JP, et al.
Hum Mol Genet 2 : 1051-1053. 1993
38GLA
Sequence variations in the first exon of alpha galactosidase A.
Davies JP, et al.
J Med Genet 30 : 658-663. 1993
39GLA, DXS178
Physical mapping shows close linkage between the alpha-galactosidase A gene (GLA) and the DXS178 locus.
Vetrie D, et al.
Hum Genet 92 : 95-99. 1993
40GLA
Invariant exon skipping in the human alpha-galactosidase A pre-mRNA : A g+1 to t substitution in a 5'-splice site causing Fabry disease.
Sakuraba H, et al.
Genomics 12 : 643-650. 1992
41GLA
Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24 : DXS17, DXS87, DXS287 and alpha-galactosidase A.
Kornreich R, et al.
Genomics 13 : 70-74. 1992
42GLA
Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.
Ishii S, et al.
Hum Genet 89 : 29-32. 1992
43GLA
A 3' splice site consensus sequence mutation in the intron 3 of the alpha-galactosidase A gene in a patient with Fabry disease.
Yokoi T, Shinoda K, Ohno I, Kato K, Miyawaki T, Taniguchi N.
Jpn J Hum Genet 36(3):245-50. 1991
44GLA
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
45GLA
Alpha-galactosidase A gene rearrangements causing Fabry disease.
Kornreich R, et al.
J Biol Chem 265 : 9319-9326. 1990
46GLA
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
47GLA
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
48GLA
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
49GLA
Linkage between alpha-galactosidase A and DXS17, 87, 94, 101, 106 and 287.
Astrin KH, et al.
(HGM10) Cytogenet Cell Genet 51 : 953. 1989
50GLA
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
51GLA
Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease.
Lemansky P, et al.
J Biol Chem 262 : 2062-2065. 1987
52GLA, DXS17, DXS87, DXS88
Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17,DXS87 and DXS88.
MacDermot KD, et al.
Hum Genet 77 : 263-266. 1987
53GLA
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
54ARSB, GLA, HEXB
Regional localization of alpha-galactosidase (GLA) to Xpter->q22, hexosaminidase B (HEXB) to 5q13->qter, and arylsulfatase B (ARSB) to 5pter->q13.
Fox MF, et al.
Cytogenet Cell Genet 38 : 45-49. 1984
55GSD2, GLA, HEXB, MDH1, IDH1, PGK1
Regional mapping of enzyme loci on human chromosomes 2,17,5 and X by use of somatic cell hybridization.
Weil D, et al.
Cytogenet Cell Genet 25 : 215-216. 1979
56GLA
698.
Molecular interaction of imino sugars with human alpha-galactosidase: Insight into the mechanism of complex formation and pharmacological chaperone action in Fabry disease.
Sugawara K, Tajima Y, Kawashima I, Tsukimura T, Saito S, Ohno K, Iwamoto K, Kobayashi T, Itoh K, Sakuraba H ugawara K, Tajima Y, Kawashima I, Tsukimura T, Saito S, Ohno K, Iwamoto K, Kobayashi T, Itoh K, Sakuraba H.