NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder (Q24317771)

Caspase recruitment domain family member 8

1 reference

NLR family pyrin domain containing 3

1 reference

NLR family pyrin domain containing 2

1 reference

NLR family CARD domain containing 4

1 reference

Caspase 1

1 reference

1 reference

6

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Michael McDermott

4

object named as

Michael F McDermott

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author name string

Laetitia Agostini

1

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Fabio Martinon

2

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Kimberly Burns

3

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Philip N Hawkins

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis

5

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language of work or name

English

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publication date

March 2004

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published in

Immunity

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volume

20

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page(s)

319-25

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issue

3

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cites work

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De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases

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Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra

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Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome

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Cytochrome c and dATP-dependent formation of Apaf-1/caspase-9 complex initiates an apoptotic protease cascade

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PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B

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ASC, a novel 22-kDa protein, aggregates during apoptosis of human promyelocytic leukemia HL-60 cells

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Pyrin N-terminal homology domain- and caspase recruitment domain-dependent oligomerization of ASC

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