Results 1 to 10 of about 13,156 (213)

Niemann-Pick C1 (NPC1)/NPC1-like1 Chimeras Define Sequences Critical for NPC1’s Function as a Filovirus Entry Receptor [PDF]

Viruses, 2012
We recently demonstrated that Niemann-Pick C1 (NPC1), a ubiquitous 13-pass cellular membrane protein involved in lysosomal cholesterol transport, is a critical entry receptor for filoviruses.
Esther Ndungo, John M. Dye, Sean P. Whelan, Melinda Ng, Andrew S. Herbert, Anuja Krishnan, Emily Happy Miller, Kartik Chandran   +7 more
doaj   +9 more sources

Optimization of systemic AAV9 gene therapy in Niemann–Pick disease, type C1 mice [PDF]

Life Science Alliance
Systemic AAV9-h NPC1 gene therapy in null Npc1 m1N mice at higher doses or with earlier administration and treatment of hypomorphic Npc1 I1061T mice delays disease progression and increases lifespan. Niemann–Pick disease, type C1 (NPC1), is a rare, fatal
Avani V Mylvara, Alana L Gibson, Tansy Gu, Cristin D Davidson, Arturo A Incao, Katerina Melnyk, Susan R Gembic, Dominick Pierre-Jacques, Stephanie M Cologna, Charles P Venditti, Forbes D Porter, William J Pavan   +11 more
doaj   +2 more sources

A comprehensive analysis identifies and validates NPC1 as a potential biomarker for prognosis in HCC [PDF]

Frontiers in Genetics
Niemann-Pick type C1 protein (NPC1), a key regulator of intracellular cholesterol transport and a transmembrane protein, has been implicated in carcinogenesis, particularly in hepatocellular carcinoma (HCC).
Xingjun Lu, Tianyao Gou, Xuxing He, Xia Chen, Daqing Yang, Xiaozhen Peng, Xiaozhen Peng   +6 more
doaj   +2 more sources

The Niemann–Pick C1 Protein of Patients with Hepatocellular Carcinoma Is Associated with Survival Time in Males and Tumor Size in Females [PDF]

Biomedicines
Background/Objectives: The Niemann–Pick C1 (NPC1) protein regulates cellular cholesterol homeostasis, which is disrupted in hepatocellular carcinoma (HCC). Sex differences in cholesterol metabolism may also be related to NPC1 expression in HCC.
Florian Weber, Katja Evert, Alexander Scheiter, Sophie von Sachsen-Coburg, Kirsten Utpatel, Christa Buechler   +5 more
doaj   +2 more sources

NPC1 as a novel therapeutic target for induction of pyroptosis in cancers [PDF]

Biomarker Research
Background Cholesterol metabolism reprogramming is a hallmark of cancer cells that exhibit cholesterol addiction by absorbing low-density lipoprotein (LDL) to generate cholesterol for growth. Yet the underlying mechanisms remain unclear. Methods We began
Chuanchao Zhang, Qiang Wang, Pan Su, Jianfei Qian, Qi Guo, Wei Wu, Rui Duan, Yufei Zhang, Youli Zu, Ling Zhong, Liuling Xiao, Qing Yi   +11 more
doaj   +2 more sources

Menstrual blood-derived endometrial stem cells ameliorate neuroinflammation and apoptosis through JAK2/STAT3 signaling pathway in NPC1 mutant cell and mice [PDF]

Stem Cell Research & Therapy
Background Niemann-Pick disease type C1 (NPC1) is caused by NPC1 gene mutations, resulting in Purkinje cell degeneration and death, glial cell activation, and progressive neurodegeneration.
Lihong Guan, Keli Xu, Minlin Yang, Yangyang Li, Xiaoying Li, Han Li, Ciqing Yang, Liang Qiao, Yanli Liu, Zisen Jia, Jinghui Wei, Fen Yang, Juntang Lin   +12 more
doaj   +2 more sources

Inhibition of NPC Intracellular Cholesterol Transporter 1 Dually Regulates Aldosterone Secretion Via the Steroidogenic Acute Regulatory‐Related Lipid Transfer Domain‐3‐Voltage‐Dependent Anion Channel 1 Axis and Inositol 1,4,5‐Trisphosphate Receptor Type 3‐Calcium Signaling [PDF]

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Aldosterone‐producing adenomas, a prevalent cause of endocrine hypertension, arise from uncontrolled aldosterone production. NPC1 (NPC intracellular cholesterol transporter 1) is a cholesterol transporter located on the lysosomal limiting ...
Jun Chen, Miaoyun Chen, Jinbo Hu, Zhipeng Wu, Hongji Li, Wuchao Li, Furong He, Chuan Peng, Yong Xu, Wei Huang, Rufei Gao, Qifu Li, Linqiang Ma, Shumin Yang   +13 more
doaj   +2 more sources

Deficiency of myeloid NPC1 exacerbates liver injury and fibrosis by impairing macrophage efferocytosis

Journal of Advanced Research
Introduction: Niemann-Pick C1 (NPC1), a lysosomal cholesterol transport protein, is required for efficient efferocytosis. Patients with Npc1 mutation are frequently accompanied with hepatic symptoms, including hepatomegaly, elevated liver transaminases ...
Dongwei Guan, Pengju Huang, Xinlei Liu, Qing Li, Xiaoxun Zhang, Nan Liu, Yong Wang, Ying Wan, Jin Chai, Shiying Cai, Rui Chen, Zhijia Ye   +11 more
exaly   +3 more sources

Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel

The Korean Journal of Gastroenterology, 2021
Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder caused by mutations in the NPC1 and NPC2 genes. These mutations cause the accumulation of unesterified cholesterol and other lipids in the lysosomes.
Sun Woo Park, Ji Hong Park, Hye Jeong Moon, Minsoo Shin, Jin Soo Moon, Jae Sung Ko   +5 more
doaj   +1 more source

Phenotype assessment for neurodegenerative murine models with ataxia and application to Niemann–Pick disease, type C1

Biology Open, 2022
Identifying meaningful predictors of therapeutic efficacy from preclinical studies is challenging. However, clinical manifestations occurring in both patients and mammalian models offer significant translational value.
Julia Yerger, Antony C. Cougnoux, Craig B. Abbott, Rachel Luke, Tannia S. Clark, Niamh X. Cawley, Forbes D. Porter, Cristin D. Davidson   +7 more
doaj   +1 more source