Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in
protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most …

Gastrointestinal (GI) cancers comprise a significant number of cancer cases worldwide and
contribute to a high percentage of cancer-related deaths. To improve survival rates of GI …

Fabry disease is a lysosomal storage disease caused by mutations in the GLA gene that
encodes alpha-galactosidase (AGAL). The disease causes abnormal globotriaosylceramide …

Background: Fabry cardiomyopathy is characterized by left ventricular hypertrophy,
myocardial fibrosis, arrhythmia, and premature death. Treatment with migalastat, an oral …

Enzyme replacement therapy is the only therapeutic option for Fabry patients with
completely absent AGAL activity. However, the treatment has side effects, is costly, and …

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 …

In this study, a novel polyhistidine‐incorporated lipid nanoparticle (pHis/LNP) is developed
for the delivery of therapeutic globotriaosylceramide (Gb3) synthase siRNAs using a …

Fabry disease (FD) is caused by α-galactosidase A (AGAL) enzyme deficiency, leading to
globotriaosylceramide accumulation (Gb3) in several cell types. Pain is one of the …

Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiac diseases; it
is primarily caused by mutations in sarcomeric genes. However, HCM is also associated …

The Unfolded protein response (UPR), triggered by stress in the endoplasmic reticulum
(ER), is a key driver of neurodegenerative diseases. GM2 gangliosidosis, which includes …