Fabry's disease

El-Abassi, Rima; Singhal, Divya; England, John D.

doi:10.1016/j.jns.2014.06.029

Cited by 129 publications

(143 citation statements)

References 238 publications

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“…Fabry disease (FD, OMIM 301500) is a progressive X-linked inherited disorder of the glycosphingolipid metabolism caused by deficiency of α-galactosidase A (GLA, EC 3.2.1.22) and lysosomal accumulation of globotriaosylceramide [86]. There are two commercially available ERT options for Fabry disease: agalsidase alfa (Replagal®), which is produced in a human cell line, and agalsidase beta (Fabrazyme®), which is produced in CHO cells [87].…”

Section: Recombinant α-Galactosidase Amentioning

confidence: 99%

Human recombinant lysosomal enzymes produced in microorganisms

Espejo-Mojica

Alméciga-Díaz

Rodríguez

et al. 2015

Molecular Genetics and Metabolism

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Section: Recombinant α-Galactosidase Amentioning

confidence: 99%

Human recombinant lysosomal enzymes produced in microorganisms

Espejo-Mojica

Alméciga-Díaz

Rodríguez

et al. 2015

Molecular Genetics and Metabolism

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“…As a consequence, Gb3 starts to accumulate within lysosomes of several tissues involving blood vessels, kidneys, nervous system and heart, as well as dermal fibroblasts[5–8], accounting for FD’s clinical features[9,10] mainly including small fibre neuropathy (SFN)[11], stroke, and renal and cardiac dysfunctions[12]. SFN is mainly responsible for paraesthesias of extremities, hypohydrosis, abdominal pain and diarrhoea[5,11,12] often beginning in childhood with progressive severity throughout life. The available enzyme replacement therapy (ERT) started early before the appearance of organ failure may decrease the pathological impact of this disorder[5].…”

Section: Introductionmentioning

confidence: 99%

Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy

et al. 2017

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BackgroundFabry Disease (FD) is characterized by globotriaosylceramide-3 (Gb3) accumulation in several tissues and a small fibre neuropathy (SFN), however the underlying mechanisms are poorly known. This study aimed to: 1) ascertain the presence of Gb3 deposits in skin samples, by an immunofluorescence method collected from FD patients with classical GLA mutations or late-onset FD variants or GLA polymorphisms; 2) correlate skin GB3 deposits with skin innervation.Methodswe studied 52 genetically-defined FD patients (32 with classical GLA mutations and 20 with late-onset variants or GLA polymorphisms), 15 patients with SFN associated with a specific cause and 22 healthy controls. Subjects underwent skin biopsy to evaluate Gb3 deposits and epi-dermal innervation.ResultsSkin Gb3 deposits were found in all FD patients with classical GLA mutations but never in FD patients with late-onset variants or GLA polymorphisms or in patients with SFN and healthy controls. Abnormal deposits were found inside different skin structures but never inside axons. FD patients with GB3 deposits showed lower skin innervation than FD patients with late-onset variants or polymorphisms.Conclusions1) Skin Gb3 deposits are specific to FD patients with classical GLA mutations; 2) Gb3 deposits were associated with lower skin innervation but they were not found inside axons, suggesting an indirect damage on peripheral small fibre innervation.

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“…When racial origins are taken into account, the majority of the patients are Caucasians; however, it is also found in African Americans and in subjects of Asian ancestry [5]. …”

Section: Introductionmentioning

confidence: 99%

“…Consequently, these patients experience the full range of disease symptoms. The disease presentation in female carriers is more variable and depends on the normal-to-mutant ratio of GLA within the different tissues of the body [5,6,7]. …”

Section: Introductionmentioning

confidence: 99%

Integrative Systems Biology Investigation of Fabry Disease

Fernandes

Husi

2016

Diseases

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Fabry disease (FD) is a rare X-linked recessive genetic disorder caused by a deficient activity of the lysosomal enzyme alpha-galactosidase A (GLA) and is characterised by intra-lysosomal accumulation of globotriaosylceramide (Gb3). We performed a meta-analysis of peer-reviewed publications including high-throughput omics technologies including naïve patients and those undergoing enzyme replacement therapy (ERT). This study describes FD on a systems level using a systems biology approach, in which molecular data sourced from multi-omics studies is extracted from the literature and integrated as a whole in order to reveal the biochemical processes and molecular pathways potentially affected by the dysregulation of differentially expressed molecules. In this way new insights are provided that describe the pathophysiology of this rare disease. Using gene ontology and pathway term clustering, FD displays the involvement of major biological processes such as the acute inflammatory response, regulation of wound healing, extracellular matrix (ECM) remodelling, regulation of peptidase activity, and cellular response to reactive oxygen species (ROS). Differential expression of acute-phase response proteins in the groups of naïve (up-regulation of ORM1, ORM2, ITIH4, SERPINA3 and FGA) and ERT (down-regulation of FGA, ORM1 and ORM2) patients could be potential hallmarks for distinction of these two patient groups.

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Fabry's disease

Cited by 129 publications

References 238 publications

Human recombinant lysosomal enzymes produced in microorganisms

Human recombinant lysosomal enzymes produced in microorganisms

Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy

Integrative Systems Biology Investigation of Fabry Disease

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