Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized
by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These …

The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are
caused for the most part by enzyme deficiencies within the lysosome resulting in …

Amongst the lysosomal cysteine cathepsin family of proteases, cathepsin S (CTSS) holds
particular interest due to distinctive properties including a normal restricted expression …

Abstract Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive
disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes …

Abstract Objective Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive,
neurodegenerative disease associated with a wide variety of progressive neurological …

Lysosomal cholesterol egress requires two proteins, NPC1 and NPC2, whose defects are
responsible for Niemann-Pick disease type C (NPC). Here, we present systematic structural …

Cholesterol is essential for neuronal physiology, both during development and in the adult
life: as a major component of cell membranes and precursor of steroid hormones, it …

Cholesterol is a crucial component of membrane bilayers by regulating their structural and
functional properties. Cholesterol traffics to different cellular compartments including …

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 …

Abstract Purpose of review: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder
that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key …