Recombinant Human Alpha-galactosidase A (GLA)

1. GLA variants found included R118C (n = 2), D83N, and D313Y (n = 7); IVS6-22 C>T, IVS4-16 A>G, IVS2+990C>A, 5'UTR-10 C>T (n = 4), IVS1-581 C>T, IVS1-1238 G>A, 5'UTR-30 G>A, IVS2+590C>T, IVS0-12 G>A, IVS4+68A>G, IVS0-10 C>T, IVS2-81-77delCAGCC, IVS2-77delC. We found that patients with common heart disease did not contain a substantial number of patients with undiagnosed Fabry disease. PMID: 29227985
2. GLA DNA screening protocols starting from the dialysis population and upstream extended to families of affected individuals may be an effective strategy to maximize the early identification of subjects with Fabry disease. PMID: 30099469
3. family study with the classical phenotype of Fabry disease due to the novel nonsense mutation c.607G>T (p.E203X) of the GLA gene; the Fabry disease phenotype is highly variable in heterozygote females, even within the same family PMID: 28152533
4. It negatively regulates calcification of human aortic valve interstitial cells. PMID: 29653899
5. Results from a study on gene variability markers in early-stage human embryos shows that GLA is a putative variability marker for the 3-day, 8-cell embryo stage. PMID: 26288249
6. Presence of isolated heterozygous -10C >T SNP is not associated with clinically relevant symptoms or organ manifestations as seen in Fabry disease. PMID: 29794742
7. The D313Y variant in the GLA gene was not Fabry disease causative in 2 Danish families. PMID: 29037082
8. The mutation p.D313Y in the GLA gene may lead to organ manifestations and elevation of the Fabry-specific biomarker lyso-globotriaosylsphingosine. PMID: 28276057
9. Four novel GLA pathogenic mutations are reported and evidence of pathogenicity of the D313Y mutation is provided. PMID: 28988177
10. alpha-Galactosidase A genotype N215S does not lead to the development of a classical Fabry phenotype but induces a specific cardiac variant of Fabry disease mimicking nonobstructive hypertrophic cardiomyopathy. PMID: 29018006
11. GLA c.196G>C variant is a genetic risk factor for cerebral small-vessel occlusion and non-cardioembolism in Japanese males but not in females. PMID: 28275245
12. we presented the clinical characters of a Chinese FD pedigree mimicking familial episodic pain. Furthermore, our finding suggests that a novel double mutation of GLA (c.273_276del TGAT in cis with c.281G>T) is associated with FD PMID: 27531472
13. Results showed that most Fabry disease patients carrying GLA IVS4+919A did not show abnormal cardiac phenotypes. The near-absence of GLA IVS4+919A in heart disease cohort suggested that this variant is not a frequent cause of overt heart diseases in Taiwan. PMID: 28377241
14. This longitudinal Fabry Registry study analyzed data from patients with Fabry disease to determine the incidence and type of severe clinical events following initiation of enzyme replacement therapy (ERT) with agalsidase beta, as well as risk factors associated with occurrence of these events PMID: 27510433
15. alpha-galactosidase A mutation, IVS4-type Fabry disease has features similar to those of classic Fabry disease and a higher frequency of deep white matter hyperintensities and a higher incidence of infarctions and pulvinar signs than in healthy controls PMID: 26869469
16. We demonstrate that the wild-type sequence harbors an hnRNP A1 and hnRNP A2/B1-binding exonic splicing silencer (ESS) overlapping the 5'splice site (5'ss) that prevents pseudoexon inclusion.we demonstrate that splice switching oligonucleotide (SSO) mediated blocking of the pseudoexon 3'ss and 5'ss effectively restores normal GLA splicing PMID: 27595546
17. Four patients had non-amenable mutant forms of a-Gal based on the validated cell-based assay conducted after treatment initiation and were excluded from primary efficacy analyses only. PMID: 27834756
18. Mesenchymal stem cells with reduced GLA activity are prone to apoptosis and senescence due to impaired autophagy and DNA repair capacity. PMID: 28098348
19. we review the various types of GLA variants and recommend that pathogenicity be considered only when associated with elevated globotriaosylceramide in disease-relevant organs and tissues as analyzed by mass spectrometry. PMID: 27195818
20. findings revealed the alternative splicing mechanism of GLA (IVS4+919G>A), and a potential treatment for this specific genetic type of Fabry disease by amiloride in the future PMID: 28430823
21. Results found a novel heterozygous stop codon mutation in exon 1 of the GLA gene in female patients with Fabry Disease with methylation in the non-mutated allele thought to be associated with the clinical severity of the disease. PMID: 28087245
22. Study described the demographic data, wide clinical spectrum of phenotypes, and GLA mutation spectrum of Fabry disease in Korea. Most of the patients had classical Fabry disease, with a 4 times higher incidence than that of late-onset Fabry disease, indicating an underdiagnosis of mild, late-onset Fabry disease. PMID: 28723748
23. we reviewed other small molecules that were reported to have a stabilizing effect on some GLA missense mutations in vitro and might be developed to act in synergy or as an alternative to 1-deoxygalactonojirimycin PMID: 27916943
24. No pathogenic mutations in the coding regions of the GLA gene were identified in this group of patients and thus no Fabry disease was found in this study. PMID: 26981927
25. High desphospho-uncarboxylated matrix Gla protein level, reflecting a poor vitamin K status, seems to be associated with kidney damage and may be also a marker of cardiovascular risk in CKD patients PMID: 27100101
26. Similar central nervous system manifestations in patients with the IVS4 mutation or classical Fabry mutations. PMID: 28166746
27. Case Report: Kidney transplantation from a mother with unrecognized Fabry disease to her son with low alpha-galactosidase A activity. PMID: 26971403
28. p.M187R GLA mutation in Fabry disease causes a severe systemic and ophthalmologic phenotype, in both male and female patients. PMID: 28225726
29. The results of the current study suggest that the GLA haplotype D313Y does not lead to severe organ manifestations as seen in genotypes known to be causal for classical Fabry disease. PMID: 27059467
30. We report a case of Fabry disease with a p.R301X (c.901 C>T) mutation in a 39-year-old man who was being treated for chronic sclerosing glomerulonephritis for 2 years. Family screening tests showed that the proband's mother, sister, and daughter had the same mutation with different phenotypes. PMID: 27156739
31. Case Report: hypertrophic obstructive cardiomyopathy with Fabry disease with the GLA E66Q mutation. PMID: 27160240
32. We conclude that a mild GLA variant is typically characterized by high residual enzyme activity and normal biomarker levels. We found evidence that these variants can still be classified as a distinctive, but milder, sub-type of FD. PMID: 26415523
33. Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA gene that codes for alpha-galactosidase A, leads to dysfunction of many cell types and includes a systemic vasculopathy. PMID: 26564084
34. Study describes 5 novel mutations found in the GLA gene of patients with clinical diagnosis of Fabry disease. PMID: 26691501
35. The present study confirms the heterogeneity of mutations in Fabry disease and the importance of molecular analysis for genetic counseling, female heterozygotes detection as well as therapeutic decisions. PMID: 26297554
36. GLA gene variations correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma PMID: 26070511
37. results directly implicated the GLA mutation p.E66Q as the genetic etiology of the Chinese renal variant FD pedigree. PMID: 26456105
38. This study indicated that the p.E66Q variant of GLA does not affect the progression of chronic kidney disease. PMID: 24718812
39. Thus, inheritance of the CIH caused an mRNA deregulation altering the GLA expression pattern, producing a tissue glycolipid storage. PMID: 26334996
40. data strongly suggest that the GLA p.(Arg118Cys) variant does not segregate with Fabry disease clinical phenotypes in a Mendelian fashion, but might be a modulator of the multifactorial risk of cerebrovascular disease PMID: 25468652
41. In Fabry disease patients, the alpha-galactosidase A-10T allele appears to be causal for neurological manifestations. PMID: 25423912
42. Some clinical cases of some members of a Sicilian family to express phenotypical variability of Anderson-Fabry disease in subjects with the same genetic mutation in alpha galactosidase A gene, are reported. PMID: 25281798
43. Case Report: immunohistologically detected synaptopodin upregulation in foamy podocytes in Fabry disease due to novel alpha-galactosidase A mutation. PMID: 25295576
44. These data confirmed that the specific approach can effectively contribute to the identification of pathological mutations in GLA. PMID: 25382311
45. The novel mutation p.M187R/g7219 T>G is associated with a particularly malignant cardiac phenotype in males and females over 40 years. PMID: 24679964
46. OC follows a gene duplication strategy while MGP variability was obtained mostly by the use of multiple promoters and alternative splicing, leading to proteins with additional functional characteristics and alternative gene regulatory pathways. [review] PMID: 25068814
47. It is clear that a certain intronic haplotype in males with cryptogenic stroke is associated with reduced GLA expression and function. PMID: 25101867
48. GLA p.E66Q mutation is a genetic risk factor for cerebral small-vessel occlusion in elderly Japanese PMID: 23724928
49. residues important for expression of the GLA activity PMID: 24386359
50. A Fabry disease patient and his daughter had the mutation c.493 G > C in the 3d exon of the GLA gene. D165H substitution affects protein folding. This highly conserved AA may be a key amino acid for enzyme functionality. PMID: 24398019

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HGNC: 4296

OMIM: 300644

KEGG: hsa:2717

STRING: 9606.ENSP00000218516

UniGene: Hs.69089