نتایج جستجو برای: pyrin

تعداد نتایج: 772  

Journal: :Journal of immunology 2007
Sudarshan Seshadri Michelle D Duncan Judith M Hart Mikhail A Gavrilin Mark D Wewers

Macrophages and their precursors, monocytes, are key cells involved in the innate immune response. Although both monocytes and macrophages produce caspase-1, the key enzyme responsible for pro-IL-1beta processing; macrophages are limited in their ability to activate the enzyme and release functional IL-1beta. In this context, because mutations in the pyrin gene (MEFV) cause the inflammatory dis...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2016
Wenqing Gao Jieling Yang Wang Liu Yupeng Wang Feng Shao

Pyrin, encoded by the MEFV gene, is best known for its gain-of-function mutations causing familial Mediterranean fever (FMF), an autoinflammatory disease. Pyrin forms a caspase-1-activating inflammasome in response to inactivating modifications of Rho GTPases by various bacterial toxins or effectors. Pyrin-mediated innate immunity is unique in that it senses bacterial virulence rather than micr...

Journal: :Journal of cellular physiology 2008
Banu Balci-Peynircioglu Andrea L Waite Chunbo Hu Neil Richards Ann Staubach-Grosse Engin Yilmaz Deborah L Gumucio

Mutations in pyrin cause the autoinflammatory disorder familial Mediterranean fever (FMF), a syndrome characterized by sporadic and unpredictable attacks of fever and localized severe pain. Currently, it is not clear how attacks are triggered, nor why they spontaneously resolve after 2 or 3 days. In fact, the cellular function of the pyrin protein and the molecular underpinnings of its malfunct...

Journal: :Journal of molecular biology 2003
Edvards Liepinsh Raitis Barbals Edgar Dahl Anatoly Sharipo Eike Staub Gottfried Otting

The PYRIN domain is a conserved sequence motif identified in more than 20 human proteins with putative functions in apoptotic and inflammatory signalling pathways. The three-dimensional structure of the PYRIN domain from human ASC was determined by NMR spectroscopy. The structure determination reveals close structural similarity to death domains, death effector domains, and caspase activation a...

Journal: :Mediators of Inflammation 2006
Ahmet Dursun Hatice Gul Durakbasi-Dursun Ayse Gul Zamani Zerrin Gülin Gulbahar Recep Dursun Cengiz Yakicier

OBJECTIVES Behçet's disease (BD) is a systemic vasculitis with recurrent oral and genital ulcers and uveitis. MEFV gene, which is the main factor in familial Mediterranean fever (FMF), is also reported to be a susceptibility gene for BD. The pyrin domain of MEFV gene is a member of death-domain superfamily and has been proposed to regulate inflammatory signaling in myeloid cells. This study was...

Journal: :Blood 2008
Jae Jin Chae Geryl Wood Katharina Richard Howard Jaffe Nona T Colburn Seth L Masters Deborah L Gumucio Nitza G Shoham Daniel L Kastner

Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in MEFV, which encodes a 781-amino acid protein denoted pyrin. We have previously shown that pyrin regulates caspase-1 activation and IL-1beta production through interaction of its N-terminal PYD motif with the ASC adapter protein, and also modulates IL-1beta production by interaction of its C-terminal B30.2 d...

2015
G Wood Y Kanno H Sun G Gutierrez-Cruz I Aksentijevich D Kastner

Introduction Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever and neutrophilmediated serosal inflammation. The gene causing FMF, MEFV, encodes a protein, pyrin. Pyrin is expressed predominantly in innate immune cells such as neutrophils, monocytes, and dendritic cells, but not in lymphocytes. Studies of pyrin localization show a cell-type dependency....

Journal: :Nature Reviews Molecular Cell Biology 2002

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2016
Hanne Van Gorp Pedro H V Saavedra Nathalia M de Vasconcelos Nina Van Opdenbosch Lieselotte Vande Walle Magdalena Matusiak Giusi Prencipe Antonella Insalaco Filip Van Hauwermeiren Dieter Demon Delfien J Bogaert Melissa Dullaers Elfride De Baere Tino Hochepied Joke Dehoorne Karim Y Vermaelen Filomeen Haerynck Fabrizio De Benedetti Mohamed Lamkanfi

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease worldwide. It is caused by mutations in the inflammasome adaptor Pyrin, but how FMF mutations alter signaling in FMF patients is unknown. Herein, we establish Clostridium difficile and its enterotoxin A (TcdA) as Pyrin-activating agents and show that wild-type and FMF Pyrin are differentially controlled by ...

Journal: :The Journal of biological chemistry 2013
Je-Wook Yu Andrew Farias Inhwa Hwang Teresa Fernandes-Alnemri Emad S Alnemri

Human pyrin with gain-of-function mutations in its B30.2/SPRY domain causes the autoinflammatory disease familial Mediterranean fever by assembling an ASC-dependent inflammasome that activates caspase-1. Wild-type human pyrin can also form an inflammasome complex with ASC after engagement by autoinflammatory PSTPIP1 mutants. How the pyrin inflammasome is activated in the absence of disease-asso...

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