Kidney organoids designed with the same mutation as that present in Fabry disease can help investigators better understand how the disease functions, authors suggested. A new report makes the case ...

How are disease-relevant molecules distributed within tissue? What changes occur even before they become visible under the microscope? Questions such as these are crucial for early diagnosis and ...

Fabry disease (MIM 301500) is a genetic disorder resulting from the deficient activity of lysosomal hydrolase α-galactosidase (GLA; EC 3. 2.1.22). 1 The enzymatic defect causes the progressive ...

Fabry disease is a metabolic disease characterized by a deficiency in the lysosomal α-galactosidase enzyme caused by mutations in the GLA gene. This leads to substrate accumulation in the lysosomes, ...

Fabry disease is a rare X-linked lysosomal storage disorder where a deficiency in α-galactosidase A (GLA) results in the pathological accumulation of globotriaosylceramide (Gb3 or GL-3) and other ...

Induced pluripotent stem (iPS) cells have a great impact on biology and medicine, and they are expected to improve regenerative medicine. Since 2014 when a sheet of retinal pigment epithelial cells ...