Disturbances of lipid homeostasis in cells provoke human diseases. The elucidation of the
underlying mechanisms and the development of efficient therapies represent formidable …

Abstract Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD)
characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to …

Abstract Background Niemann–Pick disease type C is a rare lysosomal storage disorder.
We evaluated the safety and efficacy of N-acetyl-l-leucine (NALL), an agent that potentially …

Lysosome dysfunction is a shared feature of rare lysosomal storage diseases and common
age-related neurodegenerative diseases. Microglia, the brain-resident macrophages, are …

The GM2 gangliosidoses, Tay-Sachs (TSD), Sandhoff disease (SD) and GM2 activator
deficiency are rare, progressive, neurodegenerative lysosomal storage disorders (LSDs) …

Objective To investigate the safety and efficacy of N-acetyl-l-leucine (NALL) on symptoms,
functioning, and quality of life in pediatric (≥ 6 years) and adult Niemann–Pick disease type …

Traumatic brain injury (TBI) is a major cause of mortality and long-term disability around the
world. Even mild to moderate TBI can lead to lifelong neurological impairment due to acute …

Abstract Background Niemann-Pick disease, type C1 (NPC1) is an ultrarare, recessive,
lethal, lysosomal disease characterized by progressive cerebellar ataxia and cognitive …

Abstract Background Niemann-Pick disease type C (NPC) is a rare autosomal recessive
neurodegenerative lysosomal disease characterized by multiple symptoms such as …

ABSTRACT Introduction Niemann-Pick disease type C (NPC) is a rare, autosomal recessive,
lysosomal storage disorder. To combat the progressive neurodegeneration in NPC, disease …