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 …

Links between autophagy and lipid droplet dynamics

C Xu, J Fan - Journal of Experimental Botany, 2022 - academic.oup.com
Autophagy is a catabolic process in which cytoplasmic components are delivered to
vacuoles or lysosomes for degradation and nutrient recycling. Autophagy-mediated …

The role of lysosomal membrane proteins in autophagy and related diseases

J Xu, J Gu, W Pei, Y Zhang, L Wang, J Gao - The FEBS journal, 2024 - Wiley Online Library
As a self‐degrading and highly conserved survival mechanism, autophagy plays an
important role in maintaining cell survival and recycling. The discovery of autophagy‐related …

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 …

Npc1 gene mutation abnormally activates the classical Wnt signalling pathway in mouse kidneys and promotes renal fibrosis

L Guan, Z Jia, K Xu, M Yang, X Li, L Qiao… - Animal …, 2024 - Wiley Online Library
Niemann–Pick disease type C1 (NPC1) is a lysosomal lipid storage disease caused by
NPC1 gene mutation. Our previous study found that, compared with wild‐type (Npc1+/+) …

[HTML][HTML] The point mutation of the cholesterol trafficking membrane protein NPC1 may affect its proper function in more than a single step: molecular dynamics …

HJ Yoon, J Jeong, G Kim, HH Lee, S Jang - Computational Biology and …, 2022 - Elsevier
Abstract The Niemann-Pick type C1 (NPC1) protein is one of the key players of cholesterol
trafficking from the lysosome and its function is closely coupled with the Niemann-Pick type …

Elucidating the mutational impact in causing Niemann–Pick disease type C: an in silico approach

P Kannan, MP Nanda Kumar, N Rathinam… - Journal of …, 2023 - Taylor & Francis
Niemann–Pick disease type C is a rare autosomal recessive of lysosomal storage disorder
characterized by impaired intracellular lipid transport and has a tendency to accumulate the …

[PDF][PDF] NIEMANN-PICK TYPE C: CLINICAL CHARACTERISTICS, DIAGNOSIS, AND MANAGEMENT. A MINI-REVIEW

V Siokas, AM Aloizou, G Xiromerisiou… - Αρχεία Κλινικής …, 2022 - jneurology.gr
Abstract Niemann–Pick type C (NPC), is a lysosomal storage disorder and belongs to a
group of diseases characterized by defective cholesterol trafficking. It is inherited with the …

Identifying Chaperone Proteins that Fold Mutant NPC1

SZ Saad - 2021 - search.proquest.com
Abstract Niemann-Pick Type C disease (NPC) is a fatal neurodegenerative lysosomal
storage disorder that primarily results from mutations in the late endosomal cholesterol …