A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans (Q24337054)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21881205%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21881205%20AND%20SRC:MED&resulttype=core&format=json

Proteasome 20S subunit beta 8

11 February 2020

main subject

inflammation

0 references

1 reference

GOA release 2020-03-11

fat cell differentiation

1 reference

Proteasome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7)

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

2

1 reference

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11 February 2020

Shigeo Murata

12

1 reference

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11 February 2020

Koji Yasutomo

15

1 reference

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11 February 2020

4

Keisuke Izumi

1 reference

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11 February 2020

author name string

Akiko Kitamura

1

1 reference

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11 February 2020

Hisanori Uehara

3

1 reference

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11 February 2020

Izumi Kawachi

5

1 reference

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11 February 2020

Masatoyo Nishizawa

6

1 reference

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11 February 2020

Yasuko Toyoshima

7

1 reference

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11 February 2020

Hitoshi Takahashi

8

1 reference

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11 February 2020

Daron M Standley

9

1 reference

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11 February 2020

Keiji Tanaka

10

1 reference

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11 February 2020

Jun Hamazaki

11

1 reference

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11 February 2020

Koji Obara

13

1 reference

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11 February 2020

Itaru Toyoshima

14

1 reference

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11 February 2020

language of work or name

English

0 references

publication date

1 September 2011

1 reference

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Journal of Clinical Investigation

11 February 2020

published in

1 reference

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11 February 2020

volume

121

1 reference

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11 February 2020

page(s)

4150-4160

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11 February 2020

issue

10

1 reference

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Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress

11 February 2020

cites work

1 reference

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A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes

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19 March 2017

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Immunoproteasome assembly and antigen presentation in mice lacking both PA28alpha and PA28beta.

19 March 2017

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19 March 2017

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19 March 2017

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NLRP3 inflammasome activation: The convergence of multiple signalling pathways on ROS production?

7 April 2017

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7 April 2017

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PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome

7 April 2017

1 reference

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Molecular mechanisms of proteasome assembly

27 September 2017

1 reference

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Dissecting beta-ring assembly pathway of the mammalian 20S proteasome.

27 September 2017

1 reference

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A case of periodic-fever-syndrome-like disorder with lipodystrophy, myositis, and autoimmune abnormalities.

27 September 2017

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Recent advances in the molecular pathogenesis of hereditary recurrent fevers

27 September 2017

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Pathological lymphocyte activation by defective clearance of self-ligands in systemic lupus erythematosus

27 September 2017

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Beta 2 subunit propeptides influence cooperative proteasome assembly

27 September 2017

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Immunoproteasome assembly: cooperative incorporation of interferon gamma (IFN-gamma)-inducible subunits

27 September 2017

1 reference

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Intermediates in the formation of mouse 20S proteasomes: implications for the assembly of precursor beta subunits

27 September 2017

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Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome.

27 September 2017

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27 September 2017

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p38 MAPK and NF-kappa B collaborate to induce interleukin-6 gene expression and release. Evidence for a cytoprotective autocrine signaling pathway in a cardiac myocyte model system

30 May 2018

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30 May 2018

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29 November 2018

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29 November 2018

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29 November 2018

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29 November 2018

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29 November 2018

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12 December 2020

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12 December 2020

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12 December 2020

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12 December 2020

Identifiers

DOI

10.1172/JCI58414

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21881205%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21881205%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

2 references