« Previous
Next »
Trends in Cardiovascular Medicine
Volume 17, Issue 4
, Pages 129-133
, May 2007
α-Galactosidase A in Vascular Disease
References
- Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation. J Clin Invest. 2000;105:1563–1571
- . Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology. 2005;64:2148–2150
- . A case of “angio-keratoma”. Br J Dermatol. 1898;10:113–117
- Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med. 2000;48:227–235
- . Cardiac manifestations of Fabry's disease. Report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction. Am J Cardiol. 1975;36:829–835
- Cardiopulmonary exercise testing in Fabry disease. Respiration. 2005;72:504–511
- Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency. Circulation. 2005;111:629–632
- Enzymatic defect in Fabry's disease. Cereamidetrihexosidase deficiency. N Engl J Med. 1967;276:1163–1167
- . Sphingolipids in atherosclerosis and vascular biology. Arterioscler Thromb Vasc Biol. 1998;18:1523–1533
- Spontaneous thrombosis in mice carrying the factor V Leiden mutation. Blood. 2000;96:4222–4226
- . Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976;17:125–131
- . In vivo studies on glycosphingolipid metabolism in porcine blood. J Biol Chem. 1970;245:410–416
- Alpha-galactosidase A deficiency: Fabry Disease. In: Scriver CR, et al. editor. The metabolic and molecular bases of inherited disease. 8th ed.. New York: McGraw-Hill; 2001;p. 3733–3774
- Fabry disease: correction of the enzymatic deficiency by renal transplantation. Birth Defects Orig Artic Ser. 1973;9:88–96
- . Diagnostic electron microscopy. II. Fabry's disease: use of biopsies from uninvolved skin. Acute and chronic changes involving the microvasculature and small unmyelinated nerves. Pathol Annu. 1981;16(Pt 1):139–158
- Fabry disease in mice is associated with age-dependent susceptibility to vascular thrombosis. J Am Soc Nephrol. 2003;14:298–302
- Lethal perinatal thrombosis in mice resulting from the interaction of tissue factor pathway inhibitor deficiency and factor V Leiden. Circulation. 2002;105:2139–2142
- Safety and efficacy of recombinant human α-galactosidase a replacement therapy in Fabry's disease. N Engl J Med. 2001;345:9–16
- . Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis. Arch Dermatol Syph. 1898;111:187–200
- . The heart in Fabry's disease. A histochemical and electron microscopic study. Am J Cardiol. 1969;24:95–110
- Fabry disease: an unusual cause of severe coronary disease in a young man. Ann Intern Med. 1992;117:221–223
- Allograft loss in renal transplant recipients with Fabry's disease and activated protein C resistance. Transplantation. 2000;69:2099–2102
- . Atherosclerosis: the road ahead. Cell. 2001;104:503–516
- . The low-density lipoprotein pathway and its relation to atherosclerosis. Annu Rev Biochem. 1977;46:897–930
- . Stroke in Fabry's disease. J Neurol. 1994;241:153–156
- . Functional role of glycosphingolipids in cell recognition and signaling. J Biochem (Tokyo). 1995;118:1091–1103
- . Fabry disease: preclinical studies demonstrate the effectiveness of α-galactosidase A preplacement in enzyme-deficient mice. Am J Hum Genet. 2001;68:14–25
- Adeno-associated vira vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs ofFabry mice. Proc Natl Acad Sci. 2001;98:2676–2681
- Different phenotypic expression of Fabry disease in female monozygotic twins. J Inherit Metab Dis. 1991;14:105–106
- . Cerebrovascular complications of Fabry's disease. Ann Neurol. 1996;40:8–17
- Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease. Circulation. 2001;104:1506–1512
- . Glycosphingolipid accumulation in the aortic wall is another feature of human atherosclerosis. Atheroscler Thromb Vasc Biol. 1995;15:1607–1615
- From vulnerable plaque to vulnerable patient: A call for new definitions and risk assessmentstrategies: Part 1. Circulation. 2003;108:1664–1672
- . Angiokeratoma corporis diffusum (Fabry disease): ultrastructural studies of the skin. Acta Derm Venereol. 1981;61:37–41
- An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med. 1995;333:288–293
- Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice. Proc Natl Acad Sci U S A. 1999;96:6423–6427
- . Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal diseases; two autopsy reports. Acta Med Scand. 1947;128:234–255
- Non invasive evaluation of endothelial function in patients with Anderson-Fabry disease. Int Angiol. 2005;24:295–299
- Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet. 2005;366:1794–1796
- Enzyme replacement therapy in Fabry disease (a randomized controlled trial). JAMA. 2001;285:2743–2749
- Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement. Virchows Arch. 2006;448:337–343
- alpha-Galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation. Stroke. 2006;37:1106–1108
- . Early renal failure in Fabry's disease. Am J Kidney Dis. 1983;2:651–654
- Lipid composition of human serum lipoproteins. Biochem J. 1967;104:340–352
- . Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med. 1994;330:517–522
- . Fabry's disease: classification as a sphyngolipidosis and partial characterisation of a novel glycolipid. J Biol Chem. 1963;238:3148–3150
- High incidence of thrombosis in Fabry's disease. Intern Med. 1997;36:327–329
- Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure. Am J Nephrol. 1996;16:352–357
PII: S1050-1738(07)00050-3
doi: 10.1016/j.tcm.2007.02.006
© 2007 Elsevier Inc. All rights reserved.
« Previous
Next »
Trends in Cardiovascular Medicine
Volume 17, Issue 4
, Pages 129-133
, May 2007
