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The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations

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28 March 2020

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The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations (English)

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28 March 2020

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cerebral small vessel diseases

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25 July 2020

Maria Vittoria Cubellis

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Giuseppina Andreotti

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Valentina Citro

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Marco Cammisa

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Ludovica Liguori

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Chiara Cimmaruta

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Jan Lukas

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International Journal of Molecular Sciences

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Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease

1 reference

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1 October 2017

FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease.

1 reference

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1 October 2017

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

1 reference

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1 October 2017

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

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1 October 2017

Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiency.

1 reference

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1 October 2017

Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body

1 reference

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1 October 2017

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant

1 reference

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1 October 2017

Pharmacokinetics and Safety of Migalastat HCl and Effects on Agalsidase Activity in Healthy Volunteers.

1 reference

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1 October 2017

GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing

1 reference

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1 October 2017

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

1 reference

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1 October 2017

pH-Responsive Pharmacological Chaperones for Rescuing Mutant Glycosidases.

1 reference

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1 October 2017

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Substrate-specific gene expression profiles in different kidney cell types are associated with Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

The attenuated/late onset lysosomal storage disorders: Therapeutic goals and indications for enzyme replacement treatment in Gaucher and Fabry disease

1 reference

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1 October 2017

Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry Mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Looking for protein stabilizing drugs with thermal shift assay.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Taming molecular flexibility to tackle rare diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Molecular basis of 1-deoxygalactonojirimycin arylthiourea binding to human α-galactosidase a: pharmacological chaperoning efficacy on Fabry disease mutants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

A thermodynamic assay to test pharmacological chaperones for Fabry disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Identification and analysis of conserved pockets on protein surfaces

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Agalsidase benefits renal histology in young patients with Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

High throughput screening for inhibitors of alpha-galactosidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies

1 reference

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1 October 2017

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

1 reference

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1 October 2017

Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Screening for pharmacological chaperones in Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

The heart in Anderson-Fabry disease and other lysosomal storage disorders.

1 reference

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1 October 2017

High incidence of later-onset fabry disease revealed by newborn screening

1 reference

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1 October 2017

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy

1 reference

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1 October 2017

Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

1 October 2017

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

1 reference

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1 October 2017

Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease

1 reference

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1 October 2017

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group

1 reference

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29 June 2018

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

29 June 2018

Enzyme enhancers for the treatment of Fabry and Pompe disease.

1 reference

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29 June 2018

Co-administration with the pharmacological chaperone AT1001 increases recombinant human α-galactosidase A tissue uptake and improves substrate reduction in Fabry mice

1 reference

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29 June 2018

Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility

1 reference

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29 June 2018

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

1 reference

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22 September 2018

X-chromosome inactivation in female patients with Fabry disease.

1 reference

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22 September 2018

Absence of α-galactosidase cross-correction in Fabry heterozygote cultured skin fibroblasts.

1 reference

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22 September 2018

Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations

1 reference

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22 September 2018

Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones.

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22 September 2018

p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

22 September 2018

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.

1 reference

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22 September 2018

Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution.

1 reference

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22 September 2018

Fabry disease: results of the first UK hemodialysis screening study.

1 reference

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22 September 2018

Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women.

1 reference

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22 September 2018

2,5-Dideoxy-2,5-imino-d-altritol as a new class of pharmacological chaperone for Fabry disease.

1 reference

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22 September 2018

A validated disease severity scoring system for Fabry disease.

1 reference

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22 September 2018

Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease

1 reference

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22 September 2018

Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

22 September 2018

Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

22 September 2018

Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

22 September 2018

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

22 September 2018

Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

22 September 2018

White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

22 September 2018

Effect of genetic modifiers on cerebral lesions in Fabry disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

22 September 2018

CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

22 September 2018

The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

22 September 2018

Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

22 September 2018

Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

22 September 2018

Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

22 September 2018

Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5187810

21 October 2018

Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/27916943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vitro inhibition and intracellular enhancement of lysosomal α-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives

1 reference

https://pubmed.ncbi.nlm.nih.gov/27916943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycosidase inhibition by all 10 stereoisomeric 2,5-dideoxy-2,5-iminohexitols prepared from the enantiomers of glucuronolactone

1 reference

https://pubmed.ncbi.nlm.nih.gov/27916943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/27916943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa

1 reference

https://pubmed.ncbi.nlm.nih.gov/27916943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/27916943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/27916943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comment on 'p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males'

1 reference

https://pubmed.ncbi.nlm.nih.gov/27916943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1 reference

https://pubmed.ncbi.nlm.nih.gov/27916943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial

1 reference

https://pubmed.ncbi.nlm.nih.gov/27916943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intrafamilial phenotypic variability in four families with Anderson-Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/27916943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/27916943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information

1 reference

https://pubmed.ncbi.nlm.nih.gov/27916943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.3390/IJMS17122010

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27916943%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27916943%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27916943%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

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