Results 181 to 190 of about 13,156 (213)

Structural basis for itraconazole-mediated NPC1 inhibition [PDF]

Nature Communications, 2020
AbstractNiemann-Pick C1 (NPC1), a lysosomal protein of 13 transmembrane helices (TMs) and three lumenal domains, exports low-density-lipoprotein (LDL)-derived cholesterol from lysosomes. TMs 3–7 of NPC1 comprise the Sterol-Sensing Domain (SSD). Previous studies suggest that mutation of the NPC1-SSD or the addition of the anti-fungal drug itraconazole ...
Tao Long, Xiaofeng Qi, Abdirahman Hassan
exaly   +4 more sources

Mutations in NPC1 Highlight a Conserved NPC1-Specific Cysteine-Rich Domain [PDF]

American Journal of Human Genetics, 1999
Niemann-Pick type II disease is an autosomal recessive disorder characterized by a defect in intracellular trafficking of sterols. We have determined the intron/exon boundaries of eight exons from the conserved 3' portion of NPC1, the gene associated with most cases of the disease.
Greer, WL, Dobson, MJ, Girouard, GS, Byers, DM, Riddell, DC, Neumann, PE   +5 more
exaly   +3 more sources

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Familial Alzheimer’s disease associated with heterozygous NPC1 mutation

Journal of Medical Genetics, 2023
Introduction NPC1 mutations are responsible for Niemann-Pick disease type C (NPC), a rare autosomal recessive neurodegenerative disease. Patients harbouring heterozygous NPC1 mutations may rarely show parkinsonism or dementia.
Lopergolo D., Bianchi S., Gallus G. N., Locci S., Pucci B., Leoni V., Gasparini D., Tardelli E., Chincarini A., Sestini S., Santorelli F. M., Zetterberg H., De Stefano N., Mignarri A.   +13 more
openaire   +3 more sources

The NPC1 protein: structure implies function

Biochimica Et Biophysica Acta - Molecular and Cell Biology of Lipids, 2004
Niemann-Pick type C (NPC) is a lysosomal storage disorder, characterized by intracellular accumulation of low-density lipoprotein (LDL)-derived cholesterol and neurodegeneration leading to premature death. The most common form of the disease, NPC1, results from mutations in the NPC1 gene.
Catherine, Scott, Y A, Ioannou
exaly   +3 more sources

Cholesterol Signaling at the Endoplasmic Reticulum Occurs in npc1−/− but Not in npc1−/−, LDLR−/− Mice

Biochemical and Biophysical Research Communications, 2001
It remains controversial whether deficiency of the Niemann-Pick C1 (npc1) protein results in altered cholesterol signaling at the endoplasmic reticulum (ER). In this report, we have measured the processed, nuclear form of sterol regulatory element binding protein (SREBP)-1 in livers of npc1 wild-type, heterozygous, and homozygous deficient mice, alone,
R P, Erickson, M, Kiela, W S, Garver, K, Krishnan, R A, Heidenreich   +4 more
openaire   +2 more sources

NPC1, intracellular cholesterol trafficking and atherosclerosis

Clinica Chimica Acta, 2014
Post-lysosomal cholesterol trafficking is an important, but poorly understood process that is essential to maintain lipid homeostasis. Niemann-Pick type C1 (NPC1), an integral membrane protein on the limiting membrane of late endosome/lysosome (LE/LY), is known to accept cholesterol from NPC2 and then mediate cholesterol transport from LE/LY to ...
Xiao-Hua Yu, Na Jiang, Ping-Bo Yao, Xi-Long Zheng, Francisco S. Cayabyab, Chao-Ke Tang   +5 more
openaire   +2 more sources

Lovastatin promotes myelin formation in NPC1 mutant oligodendrocytes

Journal of the Neurological Sciences, 2018
Niemann-Pick Type C (NPC) disease is a rare neurovisceral disorder caused by mutations of either NPC1 or NPC2 gene and characterized by defective intracellular transport of cholesterol and glycosphingolipids, leading to neuron loss and myelin aberration in the central nervous system.
Fan, Yang, Xiao, Feng, Arndt, Rolfs, Jiankai, Luo   +3 more
openaire   +2 more sources

Structure of human Niemann‐Pick C1 (NPC1) protein and NPC1‐NPC2 complex

The FASEB Journal, 2017
Cholesterol, essential for all animal life, plays a vital role for maintenance of membrane strength and permeability, also serves as a precursor for the biosynthesis of lipoprotein, steroid hormones, bile acid and vitamin D. Our major cholesterol sources are endogenous biosynthesis and diet uptake.
openaire   +1 more source

Computational Studies of the Cholesterol Transport between NPC2 and the N-Terminal Domain of NPC1 (NPC1(NTD))

Biochemistry, 2013
The transport of cholesterol from NPC2 to NPC1 is essential for the maintenance of cholesterol homeostasis in late endosomes. On the basis of a rigid docking model of the crystal structures of the N-terminal cholesterol binding domain of NPC1(NTD) and the soluble NPC2 protein, models of the NPC1(NTD)-NPC2-cholesterol complexes at the beginning and the ...
Guillermina, Estiu, Nazir, Khatri, Olaf, Wiest   +2 more
openaire   +2 more sources

Regional distribution of NPC1 protein in monkey brain

Journal of Neurocytology, 2000
NPC1 is a member of a family of polytopic membrane-bound proteins with sterol-sensing domains. Inactivating mutations of NPC1 are responsible for most cases of Niemann-Pick type C disease, whose hallmark is progressive neurodegeneration. The precise molecular mechanisms whereby defective NPC1 function leads to neurodegeneration are unknown.
Hu, C.Y., Ong, W.Y., Patel, S.C.
openaire   +2 more sources