Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin

JE Vance, B Karten - Journal of lipid research, 2014 - ASBMB
Niemann-Pick type C (NPC) disease is a lysosomal storage disease in which endocytosed
cholesterol becomes sequestered in late endosomes/lysosomes (LEs/Ls) because of …

Mitochondrial cholesterol import

P Elustondo, LA Martin, B Karten - … et Biophysica Acta (BBA)-Molecular and …, 2017 - Elsevier
All animal subcellular membranes require cholesterol, which influences membrane fluidity
and permeability, fission and fusion processes, and membrane protein function. The …

An overview of the role of Niemann-pick C1 (NPC1) in viral infections and inhibition of viral infections through NPC1 inhibitor

I Ahmad, SN Fatemi, M Ghaheri, A Rezvani… - Cell Communication and …, 2023 - Springer
Viruses communicate with their hosts through interactions with proteins, lipids, and
carbohydrate moieties on the plasma membrane (PM), often resulting in viral absorption via …

The Niemann-Pick type diseases–A synopsis of inborn errors in sphingolipid and cholesterol metabolism

FW Pfrieger - Progress in lipid research, 2023 - Elsevier
Disturbances of lipid homeostasis in cells provoke human diseases. The elucidation of the
underlying mechanisms and the development of efficient therapies represent formidable …

Mitochondrial dysfunction and neurodegeneration in lysosomal storage disorders

N Plotegher, MR Duchen - Trends in molecular medicine, 2017 - cell.com
Lysosomal storage disorders (LSDs) are rare inherited debilitating and often fatal disorders.
Caused by mutations affecting lysosomal proteins, LSDs are characterized by the …

Routes and mechanisms of post‐endosomal cholesterol trafficking: a story that never ends

J Luo, L Jiang, H Yang, BL Song - Traffic, 2017 - Wiley Online Library
Mammalian cells acquire most exogenous cholesterol through receptor‐mediated
endocytosis of low‐density lipoproteins (LDLs). After internalization, LDL cholesteryl esters …

Mitochondrial cholesterol: mechanisms of import and effects on mitochondrial function

LA Martin, BE Kennedy, B Karten - Journal of bioenergetics and …, 2016 - Springer
Mitochondria require cholesterol for biogenesis and membrane maintenance, and for the
synthesis of steroids, oxysterols and hepatic bile acids. Multiple pathways mediate the …

Potential use of the cholesterol transfer inhibitor U18666a as a potent research tool for the study of cholesterol mechanisms in neurodegenerative disorders

S Yasamineh, FJ Mehrabani, E Derafsh… - Molecular …, 2024 - Springer
Cholesterol is an essential component of mammalian cell membranes and a precursor for
crucial signaling molecules. The brain contains the highest level of cholesterol in the body …

Acetyl-leucine slows disease progression in lysosomal storage disorders

E Kaya, DA Smith, C Smith, L Morris… - Brain …, 2021 - academic.oup.com
Acetyl-dl-leucine is a derivative of the branched chain amino acid leucine. In observational
clinical studies, acetyl-dl-leucine improved symptoms of ataxia, in particular in patients with …

The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells

TJ Kunkel, A Townsend, KA Sullivan, J Merlet… - Nature …, 2023 - nature.com
The intracellular cholesterol transporter NPC1 functions in late endosomes and lysosomes
to efflux unesterified cholesterol, and its deficiency causes Niemann–Pick disease Type C …