Lysosomal storage diseases (LSDs), of which about 50 are known, are caused by the
defective activity of lysosomal proteins, resulting in accumulation of unmetabolized …

Oxidative stress is a condition determined by an imbalance between antioxidant and
oxidative factors. Oxidative stress can have serious consequences on our organism. Indeed …

Objective This study aimed to determine if the antioxidant N-acetylcysteine (NAC) is able to
alter peripheral and central redox capabilities in patients with Parkinson disease (PD) or …

Protein S-glutathionylation, the reversible binding of glutathione to protein thiols (PSH), is
involved in protein redox regulation, storage of glutathione, and protection of PSH from …

Loss-of-function diseases are often caused by destabilizing mutations that lead to protein
misfolding and degradation. Modulating the innate protein homeostasis (proteostasis) …

Background Fabry disease (FD) is a lysosome storage disease (LSD) characterized by
significantly reduced intracellular autophagy function. This contributes to the progression of …

In the study, the effects of dimethyl phthalate (DMP) on the antioxidant defense capacity and
immune functions of human erythrocytes were experimentally explored. DMP affected the …

Lysosomal storage disorders (LSDs) are diseases characterized by the accumulation of
macromolecules in the late endocytic system and are caused by inherited defects in genes …

BACKGROUND: Mucopolysaccharidosis type I (MPS I) patients present a wide range of
clinical manifestations, which could be due to the high molecular heterogeneity of the IDUA …

Lysosomal storage diseases (LSDs), as a group, are among the most common inherited
diseases affecting children. The primary defect is typically a genetic deficiency of one of the …