نتایج جستجو برای: pick type c1 npc1

تعداد نتایج: 1363808  

2007
Brian J. Arey Naresh Sharma Minako Ishibashi Scott Sayers Rong Li Yoshiyuki Yasuda Jeanine M. D’Armiento Martin L. Ogletree Alan R. Tall

Background—The formation of an occluding thrombus on a ruptured or eroded atherosclerotic plaque is the hallmark event leading to acute coronary syndromes, myocardial infarction, and sudden death in humans. However, other species are highly resistant to plaque complications, and the specific processes predisposing to plaque destabilization and thrombosis are poorly understood. Methods and Resul...

Journal: :eLife 2015
Melinda Ng Esther Ndungo Maria E Kaczmarek Andrew S Herbert Tabea Binger Ana I Kuehne Rohit K Jangra John A Hawkins Robert J Gifford Rohan Biswas Ann Demogines Rebekah M James Meng Yu Thijn R Brummelkamp Christian Drosten Lin-Fa Wang Jens H Kuhn Marcel A Müller John M Dye Sara L Sawyer Kartik Chandran

Biological factors that influence the host range and spillover of Ebola virus (EBOV) and other filoviruses remain enigmatic. While filoviruses infect diverse mammalian cell lines, we report that cells from African straw-colored fruit bats (Eidolon helvum) are refractory to EBOV infection. This could be explained by a single amino acid change in the filovirus receptor, NPC1, which greatly reduce...

Journal: :Journal of Alzheimer's disease : JAD 2010
Eloy Rodríguez-Rodríguez José Luis Vázquez-Higuera Pascual Sánchez-Juan Ignacio Mateo Ana Pozueta Ana Martínez-García Ana Frank Fernando Valdivieso José Berciano María J Bullido Onofre Combarros

Aberrant cholesterol metabolism has been implicated in Alzheimer's disease (AD). Recent findings have suggested an interaction of Niemann-Pick C1 (NPC1) and ATP-binding cassette transporter A1 (ABCA1) proteins in intracellular cholesterol transport and in maintaining cell cholesterol balance. Underexpression of NPC1 in concert with under-expression of ABCA1 would result in increased cholesterol...

Journal: :Human molecular genetics 2012
M Paulina Ordonez Elizabeth A Roberts Chelsea U Kidwell Shauna H Yuan Warren C Plaisted Lawrence S B Goldstein

An unresolved issue about many neurodegenerative diseases is why neurons are particularly sensitive to defects in ubiquitous cellular processes. One example is Niemann Pick type C1, caused by defects in cholesterol trafficking in all cells, but where neurons are preferentially damaged. Understanding this selective failure is limited by the difficulty in obtaining live human neurons from affecte...

2013
Blair R. Roszell Jian-Qin Tao Kevin J. Yu Ling Gao Shaohui Huang Yue Ning Sheldon I. Feinstein Charles H. Vite Sandra R. Bates

Niemann-Pick C (NPC) disease is due to loss of NPC1 or NPC2 protein function that is required for unesterified cholesterol transport from the endosomal/lysosomal compartment. Though lung involvement is a recognized characteristic of Niemann-Pick type C disease, the pathological features are not well understood. We investigated components of the surfactant system in both NPC1 mutant mice and fel...

Journal: :American journal of physiology. Gastrointestinal and liver physiology 2011
Marianne Skov Carina K Tønnesen Gert H Hansen E Michael Danielsen

The transmembrane protein Niemann-Pick C1 Like 1 (NPC1L1) belongs to the Niemann-Pick C1 (NPC1) family of cholesterol transporters and is mainly expressed in the liver and the small intestine. NPC1L1 is believed to be the main transporter responsible for the absorption of dietary cholesterol. Like NPC1, NPC1L1 contains a sterol sensing domain, suggesting that it might be sensitive to dietary ch...

2008
K. Dobrenis D. Y. Goldstein K. Johnson F. Chen Mark E. Gelsthorpe Nikola Baumann S. Joshua Langmade Sarah E. Gale Jean E. Schaffer Daniel S. Ory

The true substrate of NPC1 is controversial and not fully understood at the current time. In this presentation, we provide experimental evidence to support a novel functional role for NPC1, which involves the intracellular trafficking of amine-containing molecules. Specifically, we propose that NPC1 has the ability to sense when lysosomes become markedly concentrated with these molecules, which...

Journal: :PLoS Genetics 2005
Dennis C Ko Ljiljana Milenkovic Steven M Beier Hermogenes Manuel JoAnn Buchanan Matthew P Scott

Niemann-Pick type C is a neurodegenerative lysosomal storage disorder caused by mutations in either of two genes, npc1 and npc2. Cells lacking Npc1, which is a transmembrane protein related to the Hedgehog receptor Patched, or Npc2, which is a secreted cholesterol-binding protein, have aberrant organelle trafficking and accumulate large quantities of cholesterol and other lipids. Though the Npc...

Journal: :Glycobiology 2006
Katrin Mani Fang Cheng Lars-Ake Fransson

Exit of recycling cholesterol from late endosomes is defective in Niemann-Pick C1 (NPC1) and Niemann-Pick C2 (NPC2) diseases. The traffic route of the recycling proteoglycan glypican-1 (Gpc-1) may also involve late endosomes and could thus be affected in these diseases. During recycling through intracellular compartments, the heparan sulfate (HS) side chains of Gpc-1 are deaminatively degraded ...

Journal: :The Journal of nutrition 2012
David Jelinek Joseph J Castillo Lisa M Richardson Li Luo Randall A Heidenreich William S Garver

The Niemann-Pick C1 (NPC1) gene is associated with human obesity. Mouse models with decreased Npc1 gene dosage are susceptible to weight gain when fed a high-fat diet, but not a low-fat diet, consistent with an Npc1 gene-diet interaction. The objectives of this study were to define regulation of the Npc1 gene and to investigate the Npc1 gene-diet interaction responsible for weight gain. The exp...

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