Results 1 to 10 of about 7,315 (135)

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

Selective Degradation Permits a Feedback Loop Controlling Annexin A6 and Cholesterol Levels in Endolysosomes of NPC1 Mutant Cells

Cells, 2020
We recently identified elevated annexin A6 (AnxA6) protein levels in Niemann–Pick-type C1 (NPC1) mutant cells. In these cells, AnxA6 depletion rescued the cholesterol accumulation associated with NPC1 deficiency.
Elsa Meneses-Salas, Ana García-Melero, Jaimy Jose   +2 more
exaly   +3 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

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

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

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1

Disease Models & Mechanisms, 2020
Niemann-Pick disease type C1 (NPC1) is a rare, fatal neurodegenerative disorder characterized by lysosomal accumulation of unesterified cholesterol and glycosphingolipids.
Jorge L. Rodriguez-Gil, Dawn E. Watkins-Chow, Laura L. Baxter, Gene Elliot, Ursula L. Harper, Stephen M. Wincovitch, Julia C. Wedel, Arturo A. Incao, Mylene Huebecker, Frederick J. Boehm, William S. Garver, Forbes D. Porter, Karl W. Broman, Frances M. Platt, William J. Pavan   +14 more
doaj   +1 more source

Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease. [PDF]

PLoS ONE, 2016
Niemann-Pick type C (NPC) disease is a neurodegenerative lysosomal storage disease caused by mutations in either the NPC1 or NPC2 gene. NPC is characterised by storage of multiple lipids in the late endosomal/lysosomal compartment, resulting in cellular ...
Elena-Raluca Nicoli, Nada Al Eisa, Celine V M Cluzeau, Christopher A Wassif, James Gray, Kathryn R Burkert, David A Smith, Lauren Morris, Stephanie M Cologna, Cody J Peer, Tristan M Sissung, Constantin-Daniel Uscatu, William D Figg, William J Pavan, Charles H Vite, Forbes D Porter, Frances M Platt   +16 more
doaj   +1 more source

Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. [PDF]

PLoS ONE, 2012
Niemann-Pick disease, type C1 (NPC1) is a fatal, neurodegenerative disorder for which there is no definitive therapy. In NPC1, a pathological cascade including neuroinflammation, oxidative stress and neuronal apoptosis likely contribute to the clinical ...
Stephanie M Cologna, Xiao-Sheng Jiang, Peter S Backlund, Celine V M Cluzeau, Michelle K Dail, Nicole M Yanjanin, Stephan Siebel, Cynthia L Toth, Hyun-sik Jun, Christopher A Wassif, Alfred L Yergey, Forbes D Porter   +11 more
doaj   +1 more source

Arabidopsis non-specific phospholipase C1: Characterisation and its involvement in response to heat stress

Frontiers in Plant Science, 2015
The Arabidopsis non-specific phospholipase C (NPC) protein family is encoded by the genes NPC1 – NPC6. It has been shown that NPC4 and NPC5 possess phospholipase C activity; NPC3 has lysophosphatidic acid phosphatase activity. NPC3, 4 and 5 play roles in
Zuzana eKrčková, Zuzana eKrčková, Jitka eBrouzdová, Michal eDaněk, Daniela eKocourková, Dominique eRainteau, Eric eRuelland, Eric eRuelland, Olga eValentova, Přemysl ePejchar, Jan eMartinec   +10 more
doaj   +1 more source