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A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3195477

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

About this item

Full title

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

Publisher

United States: American Society for Clinical Investigation

Journal title

The Journal of clinical investigation, 2011-10, Vol.121 (10), p.4150-4160

Language

English

Formats

Publication information

Publisher

United States: American Society for Clinical Investigation

More information

Scope and Contents

Contents

Proteasomes are multisubunit proteases that play a critical role in maintaining cellular function through the selective degradation of ubiquitinated proteins. When 3 additional β subunits, expression of which is induced by IFN-γ, are substituted for their constitutively expressed counterparts, the structure is converted to an immunoproteasome. Howe...

Alternative Titles

Full title

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3195477

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3195477

Other Identifiers

ISSN

0021-9738

E-ISSN

1558-8238

DOI

10.1172/JCI58414

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