Mammalian lipid droplets are innate immune hubs integrating cell metabolism and host defense
M Bosch, M Sánchez-Álvarez, A Fajardo… - Science, 2020 - science.org
INTRODUCTION In all eukaryotic cells, lipid droplets (LDs) store and supply essential lipids
to produce signaling molecules, membrane building blocks, and metabolic energy. The LD …
to produce signaling molecules, membrane building blocks, and metabolic energy. The LD …
The Extending Spectrum of NPC1-Related Human Disorders: From Niemann–Pick C1 Disease to Obesity
Abstract The Niemann–Pick type C1 (NPC1) protein regulates the transport of cholesterol
and fatty acids from late endosomes/lysosomes and has a central role in maintaining lipid …
and fatty acids from late endosomes/lysosomes and has a central role in maintaining lipid …
Understanding and treating niemann–pick type c disease: Models matter
V Pallottini, FW Pfrieger - International Journal of Molecular Sciences, 2020 - mdpi.com
Biomedical research aims to understand the molecular mechanisms causing human
diseases and to develop curative therapies. So far, these goals have been achieved for a …
diseases and to develop curative therapies. So far, these goals have been achieved for a …
[HTML][HTML] Mitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease
Abstract Niemann Pick type C (NPC) disease is a progressive lysosomal storage disorder
caused by mutations in genes encoding NPC1/NPC2 proteins, characterized by …
caused by mutations in genes encoding NPC1/NPC2 proteins, characterized by …
[HTML][HTML] S-Adenosyl-l-methionine restores brain mitochondrial membrane fluidity and GSH content improving Niemann-Pick type C disease
L Goicoechea, S Torres, L Fàbrega, M Barrios… - Redox Biology, 2024 - Elsevier
Abstract Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized
by impaired motor coordination due to neurological defects and cerebellar dysfunction …
by impaired motor coordination due to neurological defects and cerebellar dysfunction …
[HTML][HTML] A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis
T Kumagai, H Terashima, H Uchida, A Fukuda… - Brain and …, 2019 - Elsevier
Abstract Background Niemann-Pick type C (NPC) is a lysosomal lipid storage disease with
mutation of NPC1/NPC2 genes, which transport lipids in the endosome and lysosome, and …
mutation of NPC1/NPC2 genes, which transport lipids in the endosome and lysosome, and …
[HTML][HTML] Deficiency of myeloid NPC1 exacerbates liver injury and fibrosis by impairing macrophage efferocytosis
D Guan, P Huang, X Liu, Q Li, X Zhang, N Liu… - Journal of Advanced …, 2024 - Elsevier
Abstract Introduction Niemann-Pick C1 (NPC1), a lysosomal cholesterol transport protein, is
required for efficient efferocytosis. Patients with Npc1 mutation are frequently accompanied …
required for efficient efferocytosis. Patients with Npc1 mutation are frequently accompanied …
Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease
K Koshu, K Muramatsu, T Maru, Y Kurokawa… - Brain and …, 2023 - Elsevier
Abstract Background Niemann-Pick disease type C (NPC) is an autosomal recessive
inherited and neurodegenerative disorder. Approximately 10% of NPC patients have acute …
inherited and neurodegenerative disorder. Approximately 10% of NPC patients have acute …
Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann–Pick disease type C1
While homozygous pathogenic mutations in the NPC1 gene cause Niemann-Pick type C1
disease, heterozygous mutations cause highly-penetrant obesity. We aimed to investigate …
disease, heterozygous mutations cause highly-penetrant obesity. We aimed to investigate …
内镜微创保胆取石术后胆囊结石复发的研究进展
李骜， 刘江伟， 张东 - 肝胆胰外科杂志, 2019 - gdy.qk.wmu.edu.cn
尽管内镜微创保胆取石(choledochoscopic gallbladder-preserving cholecystolithotomy,
CGPC) 术后胆囊结石的复发率较传统保胆取石术低, 但据报道仍然有4.8%~ 21.8 …
CGPC) 术后胆囊结石的复发率较传统保胆取石术低, 但据报道仍然有4.8%~ 21.8 …