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 …

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 …

Abstract Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage
disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical …

What makes a heavy metal resistant bacterium heavy metal resistant? The mechanisms of
action, physiological functions, and distribution of metal-exporting proteins are outlined …

Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A
genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the …

Niemann–Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by
mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases) …

Niemann‐Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage
with a wide spectrum of clinical phenotypes. At the cellular level, the disorder is …

Steroidogenesis begins with cellular internalization of low-density lipoprotein particles and
subsequent intracellular processing of cholesterol. Disorders in these steps include …

The Niemann-Pick C1 (NPC1) protein is predicted to be a polytopic glycoprotein, and it
contains a region with extensive homology to the sterol-sensing domains (SSD) of 3-hydroxy …

Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired
intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in …