Fabry disease is a monogenic disease characterized by a deficiency or loss of the α-
galactosidase A (GLA). The resulting impairment in lysosomal GLA enzymatic activity leads …

N-acetylcysteine (NAC), a precursor of cysteine and, thereby, glutathione (GSH), acts as an
antioxidant through a variety of mechanisms, including oxidant scavenging, GSH …

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 …

The possibility of reprogramming human somatic cells to pluripotency has opened
unprecedented opportunities for creating genuinely human experimental models of disease …

The objective of this study was to investigate whether CRISPR/Cas9-mediated suppression
of A4GALT could rescue phenotype of Fabry disease nephropathy (FDN) using human …

Microphysiological systems (MPSs) bridge traditional cell cultures and animal models,
recapitulating human organ functions and disease characteristics. Despite their promise …

Sphingolipidoses are inborn errors of metabolism due to the pathogenic mutation of genes
that encode for lysosomal enzymes, transporters, or enzyme cofactors that participate in the …

As the field of medicine is striving forward heralded by a new era of next-generation
sequencing (NGS) and integrated technologies such as bioprinting and biological material …

Human induced pluripotent stem cell (iPSC) and CRISPR-Cas9 gene-editing technologies
have become powerful tools in disease modeling and treatment. By harnessing recent …

The blood supply in the retina ensures photoreceptor function and maintains regular vision.
Leber's hereditary optic neuropathy (LHON), caused by the mitochondrial DNA mutations …