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 …

Quality of life and a surveillant endocannabinoid system

RA de Melo Reis, AR Isaac, HR Freitas… - Frontiers in …, 2021 - frontiersin.org
The endocannabinoid system (ECS) is an important brain modulatory network. ECS
regulates brain homeostasis throughout development, from progenitor fate decision to neuro …

[HTML][HTML] Non-enzymatic cholesterol biosensor: Electrochemical sensing based on peptide-polylactic acid thin film

AL Bernardo, AHM Mohammed-Sadhakathullah… - International journal of …, 2024 - Elsevier
Cholesterol is a fundamental lipid prevalent in eukaryotic cell membranes and circulating in
the bloodstream bound to lipoproteins. It serves as a precursor to steroid hormones and is …

Effects of rare phytocannabinoids on the endocannabinoid system of human keratinocytes

C Di Meo, D Tortolani, S Standoli… - International Journal of …, 2022 - mdpi.com
The decriminalization and legalization of cannabis has paved the way for investigations into
the potential of the use of phytocannabinoids (pCBs) as natural therapeutics for the …

Cholesterol metabolism: physiological versus pathological aspects in intracerebral hemorrhage

R Huang, Q Pang, L Zheng, J Lin, H Li… - Neural Regeneration …, 2025 - journals.lww.com
Cholesterol is an important component of plasma membranes and participates in many
basic life functions, such as the maintenance of cell membrane stability, the synthesis of …

Enhanced mGluR5 intracellular activity causes psychiatric alterations in Niemann Pick type C disease

A Toledano-Zaragoza, V Enriquez-Zarralanga… - Cell Death & …, 2024 - nature.com
Abstract Niemann-Pick disease Type C (NPC) is caused by mutations in the cholesterol
transport protein NPC1 leading to the endolysosomal accumulation of the lipid and to …

The appearance of phagocytic microglia in the postnatal brain of Niemann Pick type C mice is developmentally regulated and underscores shortfalls in fine odor …

A Rava, P La Rosa, G Palladino… - Journal of cellular …, 2022 - Wiley Online Library
The loss of NPC1 or NPC2 function results in cholesterol and sphingolipid dyshomeostasis
that impairs developmental trajectories, predisposing the postnatal brain to the appearance …

[HTML][HTML] The synaptic lipidome in health and disease

AS Vallés, FJ Barrantes - Biochimica et Biophysica Acta (BBA) …, 2022 - Elsevier
Adequate homeostasis of lipid, protein and carbohydrate metabolism is essential for cells to
perform highly specific tasks in our organism, and the brain, with its uniquely high energetic …

Inhibition of fatty acid amide hydrolase prevents pathology in neurovisceral acid sphingomyelinase deficiency by rescuing defective endocannabinoid signaling

A Bartoll, A Toledano‐Zaragoza, J Casas… - EMBO Molecular …, 2020 - embopress.org
Acid sphingomyelinase deficiency (ASMD) leads to cellular accumulation of sphingomyelin
(SM), neurodegeneration, and early death. Here, we describe the downregulation of the …

The antifungal antibiotic filipin as a diagnostic tool of cholesterol alterations in lysosomal storage diseases and neurodegenerative disorders

F Bruno, S Camuso, E Capuozzo, S Canterini - Antibiotics, 2023 - mdpi.com
Cholesterol is the most considerable member of a family of polycyclic compounds
understood as sterols, and represents an amphipathic molecule, such as phospholipids …