Published in Pharmacogenet Genomics on September 01, 2008
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J Inherit Metab Dis (2009) 1.50
Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders. Assay Drug Dev Technol (2011) 1.28
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study. Orphanet J Rare Dis (2010) 1.10
Enzyme replacement therapy for Fabry disease: some answers but more questions. Ther Clin Risk Manag (2011) 1.09
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease. Hum Mutat (2011) 1.05
Functional studies of new GLA gene mutations leading to conformational Fabry disease. Biochim Biophys Acta (2009) 1.05
α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants. J Biol Chem (2012) 1.02
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. PLoS Genet (2013) 1.00
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A thermodynamic assay to test pharmacological chaperones for Fabry disease. Biochim Biophys Acta (2013) 0.82
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Taming molecular flexibility to tackle rare diseases. Biochimie (2015) 0.77
Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease. PLoS One (2016) 0.76
Rare diseases in Croatia--lesson learned from Anderson-Fabry disease. Croat Med J (2008) 0.75
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Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet (2005) 2.59
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The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol (2004) 2.21
A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity. Trends Pharmacol Sci (2003) 1.81
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A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder. FASEB J (2005) 1.53
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Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone. Hum Mutat (2008) 1.17
Screening for pharmacological chaperones in Fabry disease. Biochem Biophys Res Commun (2007) 1.11
Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer. Proc Natl Acad Sci U S A (2003) 0.97
Structural basis of Fabry disease. Mol Genet Metab (2002) 0.95
Cellular and tissue distribution of intravenously administered agalsidase alfa. Mol Genet Metab (2006) 0.93
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Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet (2007) 3.43
Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A (2008) 2.87
Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet (2006) 2.83
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) (2002) 2.51
Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab (2004) 2.46
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet (2013) 2.42
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol (2012) 2.33
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Lysosomal alpha-galactosidase controls the generation of self lipid antigens for natural killer T cells. Immunity (2010) 2.09
Cellular and tissue localization of globotriaosylceramide in Fabry disease. Virchows Arch (2007) 1.91
Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant (2005) 1.84
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet (2012) 1.82
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J Pediatr (2003) 1.75
Physiological characterization of neuropathy in Fabry's disease. Muscle Nerve (2002) 1.70
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet (2011) 1.67
Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology (2005) 1.66
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol (2002) 1.60
Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. J Am Soc Nephrol (2007) 1.59
Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis. Proc Natl Acad Sci U S A (2003) 1.57
Falsely elevated urinary Gb3 (globotriaosylceramide, CTH, GL3). Mol Genet Metab (2009) 1.56
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve (2003) 1.51
Skin-impedance in Fabry Disease: a prospective, controlled, non-randomized clinical study. BMC Neurol (2008) 1.51
Real-time image-guided direct convective perfusion of intrinsic brainstem lesions. Technical note. J Neurosurg (2007) 1.51
Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. AJNR Am J Neuroradiol (2003) 1.44
Pediatric Fabry disease. Pediatrics (2005) 1.43
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. AJNR Am J Neuroradiol (2002) 1.42
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase. FEBS J (2010) 1.42
Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J Hum Genet (2003) 1.41
Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol (2009) 1.40
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet (2011) 1.38
Cyclin-dependent kinase 5 activity regulates pain signaling. Proc Natl Acad Sci U S A (2006) 1.34
Cyclin-dependent kinase 5 modulates nociceptive signaling through direct phosphorylation of transient receptor potential vanilloid 1. Proc Natl Acad Sci U S A (2006) 1.31
Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy. J Am Acad Dermatol (2005) 1.30
New prospects for the treatment of lysosomal storage diseases. Drugs (2002) 1.26
Bioluminescent imaging of a marking transgene and correction of Fabry mice by neonatal injection of recombinant lentiviral vectors. Proc Natl Acad Sci U S A (2004) 1.25
Effective cell and gene therapy in a murine model of Gaucher disease. Proc Natl Acad Sci U S A (2006) 1.25
Murine models of acute neuronopathic Gaucher disease. Proc Natl Acad Sci U S A (2007) 1.23
White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions. Brain Res Bull (2003) 1.23
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. Hum Mutat (2004) 1.22
Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab (2008) 1.21
Increased activity of cyclin-dependent kinase 5 leads to attenuation of cocaine-mediated dopamine signaling. Proc Natl Acad Sci U S A (2005) 1.21
Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics (2006) 1.20
Enhanced calcium release in the acute neuronopathic form of Gaucher disease. Neurobiol Dis (2005) 1.20
Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms. J Biol Chem (2003) 1.18
Liposomal vaccines with conformation-specific amyloid peptide antigens define immune response and efficacy in APP transgenic mice. Proc Natl Acad Sci U S A (2007) 1.17
A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease. Haematologica (2008) 1.16
Missense mutations in the NF2 gene result in the quantitative loss of merlin protein and minimally affect protein intrinsic function. Proc Natl Acad Sci U S A (2011) 1.13
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study. J Magn Reson Imaging (2004) 1.12
Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients. Hum Genet (2005) 1.12
Screening for pharmacological chaperones in Fabry disease. Biochem Biophys Res Commun (2007) 1.11
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients. Eur J Hum Genet (2004) 1.11
Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke (2002) 1.10
The cerebral vasculopathy of Fabry disease. J Neurol Sci (2007) 1.10
Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl. Proc Natl Acad Sci U S A (2010) 1.09
Natural history and treatment of renal involvement in Fabry disease. J Am Soc Nephrol (2002) 1.09
Convection perfusion of glucocerebrosidase for neuronopathic Gaucher's disease. Ann Neurol (2005) 1.08
Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease. Proc Natl Acad Sci U S A (2011) 1.06
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms. DNA Repair (Amst) (2008) 1.06
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease. Hum Mutat (2011) 1.05
Early alterations of brain cellular energy homeostasis in Huntington disease models. J Biol Chem (2011) 1.05
The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine (Baltimore) (2005) 1.04
Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase. Biochem Biophys Res Commun (2008) 1.04
4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. Arch Neurol (2012) 1.04
Gene transfer into the central nervous system in vivo using a recombinanat lentivirus vector. J Neurosci Res (2002) 1.03
Enzyme-replacement therapy for metabolic storage disorders. Lancet Neurol (2004) 1.02
Time series proteome profiling to study endoplasmic reticulum stress response. J Proteome Res (2008) 1.02
Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model. Acta Paediatr Suppl (2006) 1.01