fabry disease/phosphatase

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Endocytosis of lysosomal alpha-galactosidase A by cultured fibroblasts from patients with Fabry disease.

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The endocytosis of alpha-galactosidase A was studied in cultured fibroblasts from patients with Fabry disease. Alpha-galactosidase A was purified from human placenta by chromatography on concanavalin A-Sepharose, DEAE-cellulose, and N-epsilon-aminocaproyl-alpha-D-galactosylamine-Sepharose.

Angiokeratoma corporis diffusum (Fabry disease). A lysosomal disease.

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Angiokeratoma corporis diffusum (Fabry disease) is an X-linked recessive disease. We had an opportunity to examine a heterozygous female patient with angiokeratoma and cornea verticillata. The patient's serum alpha-galactosidase activity was reported to be about 50% of normal. Skin lesion biopsy

Morphological features of iPS cells generated from Fabry disease skin fibroblasts using Sendai virus vector (SeVdp).

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We generated iPS cells from human dermal fibroblasts (HDFs) of Fabry disease using a Sendai virus (SeVdp) vector; this method has been established by Nakanishi et al. for pathogenic evaluation. We received SeVdp vector from Nakanishi and loaded it simultaneously with four reprogramming factors

Oxidative stress and the altered reaction to it in Fabry disease: A possible target for cardiovascular-renal remodeling?

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BACKGROUND Fabry disease is characterized by deficient expression/activity of α-GalA with consequent lysosomal accumulation in various organs of its substrate Gb3. Despite enzyme replacement therapy, Fabry disease progresses with serious myocardial, cerebral and renal manifestations. Gb3

Pseudo-clinical Fabry's disease without alpha galactosidase deficiency.

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The authors describe two cases of clinical Fabry's disease. The first patient presents a deficiency of alpha galactosidase and a urinary excretion of ceramide trihexosides and dihexosides ; the second patient had a normal alpha galactosidase and normal excretion of urinary lipids. In this latter

Rapid molecular diagnosis of genetic diseases by high resolution melting analysis: fabry and glycogen storage 1A diseases.

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For inborn errors of metabolism, high resolution melting analysis (HRMA) is a rapid, efficient, simple, and inexpensive method for mutation/rare variant screening. HRMA is a recent molecular technique for genotyping single-nucleotide polymorphisms without using probes. Here we apply HRMA to the

Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.

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For the purpose of evaluating electron microscopy of tissue culture in making the diagnosis of sphingolipidoses, an ultrastructural study was made on the cultured fibroblasts from 23 patients with the disorders. The characteristic cytoplasmic inclusions were observed in the cultured cells of Fabry

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Herbal & Natural Medicine

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