Lysosomal storage disorders (LSDs) are a group of monogenic diseases characterized by
progressive accumulation of undegraded substrates into the lysosome, due to mutations in …

The lack of available treatments and fatal outcome in most lysosomal storage disorders
(LSDs) have spurred research on pathological mechanisms and novel therapies in recent …

Fabry disease (FD) is a rare inherited disorder characterized by a wide range of systemic
symptoms; it is particularly associated with cardiovascular and renal problems. Enzyme …

Exosomes, a subset of small extracellular vesicles that play a crucial role in intercellular
communication, have garnered significant attention for their potential applications in the …

Fabry disease is a multi-organ disease, caused by mutations in the GLA gene and leading to
a progressive accumulation of glycosphingolipids due to enzymatic absence or malfunction …

Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid
metabolism due to deficient or absent lysosomal α-galactosidase A (α-Gal A) activity which …

The late-onset type of Fabry disease (FD) with GLA IVS4+ 919G> A mutation has been
shown to lead to cardiovascular dysfunctions. In order to eliminate variations in other …

The lysosomal storage disorder Fabry disease is characterized by a deficiency of the
lysosomal enzyme α-Galactosidase A. The observation that missense variants in the …

Stem cells such as induced pluripotent stem cells, embryonic stem cells, and hematopoietic
stem and progenitor cells are growing in importance in disease modeling and regenerative …

Sphingolipidoses are inherited genetic diseases characterized by the accumulation of
glycosphingolipids. Sphingolipidoses (SP), which usually involve the loss of sphingolipid …