Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production (Q28114794)

Proteasome 20S subunit alpha 3

1 reference

Proteasome 20S subunit beta 9

1 reference

Proteasome 20S subunit beta 4

1 reference

author

Martin Pelletier

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Elaine F. Remmers

13

1 reference

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6 June 2020

Hanna Kim

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Helen J Lachmann

17

1 reference

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6 June 2020

Chyi-Chia R Lee

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

42

Ivona Aksentijevich

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

31

Daniel L Kastner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

15

Suvimol Hill

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

25

Dawn Chapelle

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

35

Massimo Gadina

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

19

Jae Jin Chae

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

4

Bernadette Marrero

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

5

Ebun Omoyinmi

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

7

Gina Montealegre

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

8

Angelique Biancotto

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

9

Adam Reinhardt

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Adriana Almeida de Jesus

10

object named as

Adriana Almeida de Jesus

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

14

Lela Kardava

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

20

Jilian Brady

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

23

Angel Vera Casano

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

29

Franziska Sotzny

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

32

Antonio Torrelo

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

33

Abraham Zlotogorski

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

36

Phil McCoy

2 references

3 January 2017

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6 June 2020

1

Anja Brehm

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

12

Wanxia L Tsai

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

21

Rhina D Castillo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

38

Kristina I Rother

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Peter Werner Hildebrand

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object named as

Peter W Hildebrand

1 reference

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6 June 2020

40

Paul Brogan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

41

Elke Krüger

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

author name string

Yin Liu

2

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Afzal Sheikh

3

2 references

3 January 2017

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6 June 2020

Qing Zhou

6

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Andre Megarbane

18

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Diane Brown

22

2 references

3 January 2017

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6 June 2020

Ling Gao

24

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Yan Huang

26

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Deborah Stone

27

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Yongqing Chen

28

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Robert Wesley

37

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Susan Moir

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1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Raphaela Goldbach-Mansky

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

6 June 2020

language of work or name

English

0 references

publication date

2 November 2015

1 reference

3 January 2017

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

volume

125

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

page(s)

4196-4211

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress

6 June 2020

cites work

1 reference

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The proteasome maturation protein POMP facilitates major steps of 20S proteasome formation at the endoplasmic reticulum

20 March 2017

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Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

20 March 2017

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

20 March 2017

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IFN-gamma-induced immune adaptation of the proteasome system is an accelerated and transient response

20 March 2017

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The SWISS-MODEL Repository: new features and functionalities

20 March 2017

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The enemy within: endogenous retroelements and autoimmune disease

20 March 2017

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Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature

20 March 2017

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The structure of the mammalian 20S proteasome at 2.75 A resolution

20 March 2017

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Immuno- and constitutive proteasome crystal structures reveal differences in substrate and inhibitor specificity

20 March 2017

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A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

20 March 2017

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Salt wasting and deafness resulting from mutations in two chloride channels

20 March 2017

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20 March 2017

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Homology of proteasome subunits to a major histocompatibility complex-linked LMP gene

20 March 2017

1 reference

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Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

20 March 2017

1 reference

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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

20 March 2017

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Dysfunction in protein clearance by the proteasome: impact on autoinflammatory diseases

7 April 2017

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Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling

29 September 2017

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Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

29 September 2017

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A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations.

29 September 2017

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Emerging roles of immunoproteasomes beyond MHC class I antigen processing

29 September 2017

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Intracellular protein degradation: from a vague idea through the lysosome and the ubiquitin-proteasome system and onto human diseases and drug targeting

29 September 2017

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Immunoproteasomes at the interface of innate and adaptive immune responses: two faces of one enzyme

29 September 2017

1 reference

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Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

29 September 2017

1 reference

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Impairment of immunoproteasome function by β5i/LMP7 subunit deficiency results in severe enterovirus myocarditis

29 September 2017

1 reference

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Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

29 September 2017

1 reference

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

29 September 2017

1 reference

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Complex genetics in idiopathic hypogonadotropic hypogonadism

29 September 2017

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Autoinflammatory disease reloaded: a clinical perspective

29 September 2017

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Functions of the proteasome: from protein degradation and immune surveillance to cancer therapy

29 September 2017

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Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition

29 September 2017

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Central role of defective apoptosis in autoimmunity

29 September 2017

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An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy.

29 September 2017

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Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

29 September 2017

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IFN-alpha and IL-18 synergistically enhance IFN-gamma production in human NK cells: differential regulation of Stat4 activation and IFN-gamma gene expression by IFN-alpha and IL-12.

29 September 2017

1 reference

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Inflammatory responses in influenza A virus infection

29 September 2017

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

29 September 2017

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Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

29 September 2017

1 reference

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Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

29 September 2017

1 reference

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Structural and serological similarity of MHC-linked LMP and proteasome (multicatalytic proteinase) complexes

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4639987

Immunoproteasomes are important for proteostasis in immune responses

2 June 2018

1 reference

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

27 November 2018

1 reference

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Role of C-terminal extensions of subunits beta2 and beta7 in assembly and activity of eukaryotic proteasomes.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4639987

IFN-alpha2a induces IP-10/CXCL10 and MIG/CXCL9 production in monocyte-derived dendritic cells and enhances their capacity to attract and stimulate CD8+ effector T cells

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26524591

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Interferon-gamma induces different subunit organizations and functional diversity of proteasomes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26524591

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26524591

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI81260

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26524591%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

2 references