(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

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

11 February 2020

Shigeo Murata

12

1 reference

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

11 February 2020

Koji Yasutomo

15

1 reference

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

11 February 2020

4

Keisuke Izumi

1 reference

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

11 February 2020

author name string

Akiko Kitamura

1

1 reference

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

11 February 2020

Hisanori Uehara

3

1 reference

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

11 February 2020

Izumi Kawachi

5

1 reference

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

11 February 2020

Masatoyo Nishizawa

6

1 reference

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

11 February 2020

Yasuko Toyoshima

7

1 reference

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

11 February 2020

Hitoshi Takahashi

8

1 reference

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

11 February 2020

Daron M Standley

9

1 reference

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

11 February 2020

Keiji Tanaka

10

1 reference

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

11 February 2020

Jun Hamazaki

11

1 reference

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

11 February 2020

Koji Obara

13

1 reference

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

11 February 2020

Itaru Toyoshima

14

1 reference

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

11 February 2020

language of work or name

English

0 references

publication date

1 September 2011

1 reference

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

Journal of Clinical Investigation

11 February 2020

published in

1 reference

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

11 February 2020

volume

121

1 reference

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

11 February 2020

issue

10

1 reference

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

11 February 2020

page(s)

4150-4160

1 reference

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

Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress

11 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

Regulation of CD8+ T cell development by thymus-specific proteasomes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

Mutation of DNASE1 in people with systemic lupus erythematosus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

Recognition and processing of ubiquitin-protein conjugates by the proteasome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

Recent developments in the MAFFT multiple sequence alignment program

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

Immunological and inflammatory functions of the interleukin-1 family

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

Molecular mechanisms of proteasome assembly

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

Recent advances in the molecular pathogenesis of hereditary recurrent fevers

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

Beta 2 subunit propeptides influence cooperative proteasome assembly

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

A syndrome with nodular erythema, elongated and thickened fingers, and emaciation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

HomozygosityMapper--an interactive approach to homozygosity mapping

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

Induction of keratinocyte proliferation and lymphocytic infiltration by in vivo introduction of the IL-6 gene into keratinocytes and possibility of keratinocyte gene therapy for inflammatory skin diseases using IL-6 mutant genes.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

A selective inhibitor of the immunoproteasome subunit LMP7 blocks cytokine production and attenuates progression of experimental arthritis.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

eF-site and PDBjViewer: database and viewer for protein functional sites.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

Immunoproteasome subunits LMP2 and LMP7 downregulation in primary malignant melanoma lesions: association with lack of spontaneous regression

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

MKK6/3 and p38 MAPK pathway activation is not necessary for insulin-induced glucose uptake but regulates glucose transporter expression

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

An autopsy case of a syndrome with muscular atrophy, decreased subcutaneous fat, skin eruption and hyper gamma-globulinemia: peculiar vascular changes and muscle fiber degeneration.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195477

Interleukin-1beta and the autoinflammatory diseases

29 November 2018

1 reference

12 December 2020

Defective clearance of nucleosomes and systemic lupus erythematosus

1 reference

12 December 2020

MHC class I expression in mice lacking the proteasome subunit LMP-7

1 reference

12 December 2020

Src family kinases regulate p38 MAPK-mediated IL-6 production in Kupffer cells following hypoxia

1 reference

12 December 2020

Novel propeptide function in 20 S proteasome assembly influences beta subunit composition

1 reference

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