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Transmembrane molecular pump activity of Niemann-Pick C1 protein.

Science, 2000
Niemann-Pick C1 (NPC1) disease is characterized by cholesterol accumulation in lysosomes and aberrant feedback regulation of cellular cholesterol homeostasis. We provide evidence that the NPC1 protein has homology with the resistance-nodulation-division (RND) family of prokaryotic permeases and may normally function as a transmembrane ...
J. P. Davies, Fannie W. Chen, Y. Ioannou
semanticscholar   +3 more sources

Expression of the Niemann-Pick C1-like 1 Protein in Gastric Cancer

Anticancer Research
Background/Aim: 5-Fluorouracil (5-FU) plays a major role in the treatment of gastric cancer (GC), and overcoming resistance to this drug remains a critical challenge. This study aimed to identify genes associated with resistance to 5-FU in GC.
Takeharu Imai   +7 more
semanticscholar   +3 more sources

The structure and function of the Niemann-Pick C1 protein.

Molecular Genetics and Metabolism, 2000
Niemann-Pick C (NPC) disease is a recessive cholesterol storage disorder characterized by severe, progressive neurodegeneration. The primary causative gene found on chromosome 18q11-12 was identified by a positional cloning approach. The NPC1 gene product is predicted to be a large polytopic glycoprotein with a cytoplasmic tail containing a dileucine ...
Y. Ioannou
semanticscholar   +3 more sources

ABCA1-dependent mobilization of lysosomal cholesterol requires functional Niemann-Pick C2 but not Niemann-Pick C1 protein.

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2012
Niemann-Pick disease type C (NPC) is caused by mutations leading to loss of function of NPC1 or NPC2 proteins, resulting in accumulation of unesterified cholesterol in late endosomes and lysosomes. We previously reported that expression of the ATP-binding cassette transporter A1 (ABCA1) is impaired in human NPC1(-/-) fibroblasts, resulting in reduced ...
Emmanuel Boadu, R. Nelson, G. Francis
semanticscholar   +3 more sources

Sperm defects in mice lacking a functional Niemann–Pick C1 protein

Molecular Reproduction and Development, 2006
AbstractThe Niemann–Pick C1 (NPC1) gene encodes for a multiple membrane spanning protein, which regulates the trafficking of low‐density lipoprotein‐mediated endocytosed cholesterol. Mutation of the human NPC1 gene causes Niemann–Pick type C (NPC) disease. The Npc1NIH mice, a model of human NPC disease, bear a spontaneous mutation of the Npc1 gene, and
Jun Fan   +4 more
semanticscholar   +3 more sources

Purification and Characterization of Human Niemann-Pick C1 Protein.

Methods in molecular biology, 2019
Niemann-Pick C1 (NPC1) is a membrane protein required for the transport of low-density lipoprotein (LDL)-derived cholesterol from endosomes and lysosomes to the other organelles. Here, we describe the recombinant protein expression, purification, and characterization of the human NPC1. The protein is transiently expressed in human embryonic kidney (HEK)
X. Gong, H. Qian
semanticscholar   +3 more sources

The Niemann-Pick C1 protein in feline fibroblasts.

Molecular Genetics and Metabolism, 2002
Niemann-Pick type C (NPC) disease is a rare inherited metabolic disorder characterized by hepatosplenomegaly, progressive neurodegeneration, and storage of lipids such as cholesterol and glycosphingolipids in most tissues. The current study was conducted to characterize the Niemann-Pick C1 (NPC1) protein in feline fibroblasts.
W. Garver   +5 more
semanticscholar   +3 more sources

Structural and energetic basis for differential binding of Ebola and Marburg virus glycoproteins to a bat-derived Niemann-Pick C1 protein.

Journal of Infectious Diseases, 2023
Our previous study demonstrated that the fruit bat (Yaeyama flying fox)-derived cell line FBKT1 showed preferential susceptibility to Ebola virus (EBOV), whereas the human cell line HEK293T was similarly susceptible to EBOV and Marburg virus (MARV). This
Manabu Igarashi, T. Hirokawa, A. Takada
semanticscholar   +1 more source

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