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 …

Ketocholesterol (7KC) is a toxic oxysterol that is associated with many diseases and
disabilities of aging, as well as several orphan diseases. 7KC is the most common product of …

Lysosomal storage diseases are inborn errors of metabolism, the hallmark of which is the
accumulation, or storage, of macromolecules in the late endocytic system. They are …

Lysosomal storage diseases (LSDs) often manifest with severe systemic and central
nervous system (CNS) symptoms. The existing treatment options are limited and have no or …

Niemann-Pick disease type C (NPC) is a neurodegenerative lysosomal storage disorder
characterized by lipid accumulation in endolysosomes. An early pathologic hallmark 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 …

Objective: To assess the effects of the modified amino acid acetyl-dl-leucine (AL) on
cerebellar ataxia, eye movements, and quality of life of patients with Niemann-Pick type C …

Abstract Background Lysosomal storage disorders (LSDs), are a heterogeneous group of
rare disorders caused by defects in genes encoding for proteins involved in the lysosomal …

Abstract Johann Ludwig Wilhelm Thudicum described sphingolipids (SLs) in the late
nineteenth century, but it was only in the past fifty years that SL research surged in …

There is a large unmet medical need to develop disease-modifying treatment options for
individuals with age-related degenerative diseases of the central nervous system. The …