Lysosomal storage disorders (LSDs)—designated as' orphan'diseases—are inborn errors of
metabolism caused by defects in genes that encode proteins involved in various aspects of …

Niemann-Pick disease type C (NPC) is an atypical lysosomal storage disease resulting from
mutations in one of two genes, either NPC1 or NPC2. Although a neurovisceral disorder, it is …

Niemann-Pick disease type C (NP-C) is a neurovisceral lysosomal cholesterol trafficking
and lipid storage disorder caused by mutations in one of the two genes, NPC1 or NPC2 …

Niemann–Pick disease type C (NPC) is an atypical neurovisceral lysosomal storage
disorder resulting from mutations in either the NPC1 or the NPC2 gene, currently conceived …

Considering high prevalence of non-alcoholic fatty liver diseases (NAFLD) in patients with
inflammatory bowel disease (IBD), this study aimed to elucidate molecular mechanisms for …

Amyotrophic lateral sclerosis (ALS), the most common adult‐onset motor neuron disease, is
characterized by the selective degeneration of motor neurons leading to paralysis and …

Cholesterol metabolism operates autonomously within the central nervous system (CNS),
where the majority of cholesterol resides in myelin. We demonstrate that TDP-43, the …

Neurosteroids are steroid hormones synthesised de novo in the brain and peripheral
nervous tissues. In contrast to adrenal steroid hormones that act on intracellular nuclear …

Cholesterol is a quantitatively and biologically significant constituent of all mammalian cell
membrane, including those that comprise the retina. Retinal cholesterol homeostasis entails …

Inflammation represents the driving feature of many diseases, including atherosclerosis,
cancer, autoimmunity and infections. It is now established that metabolic processes shape a …