186 related articles for article (PubMed ID: 34819510)
1. Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
Kanazawa N; Hemmi H; Kinjo N; Ohnishi H; Hamazaki J; Mishima H; Kinoshita A; Mizushima T; Hamada S; Hamada K; Kawamoto N; Kadowaki S; Honda Y; Izawa K; Nishikomori R; Tsumura M; Yamashita Y; Tamura S; Orimo T; Ozasa T; Kato T; Sasaki I; Fukuda-Ohta Y; Wakaki-Nishiyama N; Inaba Y; Kunimoto K; Okada S; Taketani T; Nakanishi K; Murata S; Yoshiura KI; Kaisho T
Nat Commun; 2021 Nov; 12(1):6819. PubMed ID: 34819510
[TBL] [Abstract][Full Text] [Related]
2. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
Brehm A; Liu Y; Sheikh A; Marrero B; Omoyinmi E; Zhou Q; Montealegre G; Biancotto A; Reinhardt A; Almeida de Jesus A; Pelletier M; Tsai WL; Remmers EF; Kardava L; Hill S; Kim H; Lachmann HJ; Megarbane A; Chae JJ; Brady J; Castillo RD; Brown D; Casano AV; Gao L; Chapelle D; Huang Y; Stone D; Chen Y; Sotzny F; Lee CC; Kastner DL; Torrelo A; Zlotogorski A; Moir S; Gadina M; McCoy P; Wesley R; Rother KI; Hildebrand PW; Brogan P; Krüger E; Aksentijevich I; Goldbach-Mansky R
J Clin Invest; 2015 Nov; 125(11):4196-211. PubMed ID: 26524591
[TBL] [Abstract][Full Text] [Related]
3. Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
van der Made CI; Kersten S; Chorin O; Engelhardt KR; Ramakrishnan G; Griffin H; Schim van der Loeff I; Venselaar H; Rothschild AR; Segev M; Schuurs-Hoeijmakers JHM; Mantere T; Essers R; Esteki MZ; Avital AL; Loo PS; Simons A; Pfundt R; Warris A; Seyger MM; van de Veerdonk FL; Netea MG; Slatter MA; Flood T; Gennery AR; Simon AJ; Lev A; Frizinsky S; Barel O; van der Burg M; Somech R; Hambleton S; Henriet SSV; Hoischen A
Am J Hum Genet; 2024 Apr; 111(4):791-804. PubMed ID: 38503300
[TBL] [Abstract][Full Text] [Related]
4. Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor.
Kataoka S; Kawashima N; Okuno Y; Muramatsu H; Miwata S; Narita K; Hamada M; Murakami N; Taniguchi R; Ichikawa D; Kitazawa H; Suzuki K; Nishikawa E; Narita A; Nishio N; Yamamoto H; Fukasawa Y; Kato T; Yamamoto H; Natsume J; Kojima S; Nishino I; Taketani T; Ohnishi H; Takahashi Y
J Allergy Clin Immunol; 2021 Aug; 148(2):639-644. PubMed ID: 33727065
[TBL] [Abstract][Full Text] [Related]
5. Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
Papendorf JJ; Ebstein F; Alehashemi S; Piotto DGP; Kozlova A; Terreri MT; Shcherbina A; Rastegar A; Rodrigues M; Pereira R; Park S; Lin B; Uss K; Möller S; da Silva Pina AF; Sztajnbok F; Torreggiani S; Niemela J; Stoddard J; Rosenzweig SD; Oler AJ; McNinch C; de Guzman MM; Fonseca A; Micheloni N; Fraga MM; Perazzio SF; Goldbach-Mansky R; de Jesus AA; Krüger E
Front Immunol; 2023; 14():1190104. PubMed ID: 37600812
[TBL] [Abstract][Full Text] [Related]
6. Contribution of the Unfolded Protein Response (UPR) to the Pathogenesis of Proteasome-Associated Autoinflammatory Syndromes (PRAAS).
Ebstein F; Poli Harlowe MC; Studencka-Turski M; Krüger E
Front Immunol; 2019; 10():2756. PubMed ID: 31827472
[TBL] [Abstract][Full Text] [Related]
7. Heterozygous
Magg T; Okano T; Koenig LM; Boehmer DFR; Schwartz SL; Inoue K; Heimall J; Licciardi F; Ley-Zaporozhan J; Ferdman RM; Caballero-Oteyza A; Park EN; Calderon BM; Dey D; Kanegane H; Cho K; Montin D; Reiter K; Griese M; Albert MH; Rohlfs M; Gray P; Walz C; Conn GL; Sullivan KE; Klein C; Morio T; Hauck F
Sci Immunol; 2021 Jun; 6(60):. PubMed ID: 34145065
[TBL] [Abstract][Full Text] [Related]
8. Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management.
McDermott A; Jacks J; Kessler M; Emanuel PD; Gao L
Int J Dermatol; 2015 Feb; 54(2):121-9. PubMed ID: 25521013
[TBL] [Abstract][Full Text] [Related]
9. Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS).
Verhoeven D; Schonenberg-Meinema D; Ebstein F; Papendorf JJ; Baars PA; van Leeuwen EMM; Jansen MH; Lankester AC; van der Burg M; Florquin S; Maas SM; van Koningsbruggen S; Krüger E; van den Berg JM; Kuijpers TW
J Allergy Clin Immunol; 2022 Mar; 149(3):1120-1127.e8. PubMed ID: 34416217
[TBL] [Abstract][Full Text] [Related]
10. Activation of the immunoproteasome protects SH-SY5Y cells from the toxicity of rotenone.
Sun C; Mo M; Wang Y; Yu W; Song C; Wang X; Chen S; Liu Y
Neurotoxicology; 2019 Jul; 73():112-119. PubMed ID: 30904435
[TBL] [Abstract][Full Text] [Related]
11. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Poli MC; Ebstein F; Nicholas SK; de Guzman MM; Forbes LR; Chinn IK; Mace EM; Vogel TP; Carisey AF; Benavides F; Coban-Akdemir ZH; Gibbs RA; Jhangiani SN; Muzny DM; Carvalho CMB; Schady DA; Jain M; Rosenfeld JA; Emrick L; Lewis RA; Lee B; ; Zieba BA; Küry S; Krüger E; Lupski JR; Bostwick BL; Orange JS
Am J Hum Genet; 2018 Jun; 102(6):1126-1142. PubMed ID: 29805043
[TBL] [Abstract][Full Text] [Related]
12. [Clinical aspects and genetics of proteasome-associated autoinflammatory syndromes (PRAAS)].
Feist E; Brehm A; Kallinich T; Krüger E
Z Rheumatol; 2017 May; 76(4):328-334. PubMed ID: 28124745
[TBL] [Abstract][Full Text] [Related]
13. PSMB9 codon 60 polymorphisms have no impact on the activity of the immunoproteasome catalytic subunit B1i expressed in multiple types of solid cancer.
Park JE; Ao L; Miller Z; Kim K; Wu Y; Jang ER; Lee EY; Kim KB; Lee W
PLoS One; 2013; 8(9):e73732. PubMed ID: 24040045
[TBL] [Abstract][Full Text] [Related]
14. Genetic culprit of rare autoinflammatory disorder confirmed.
Am J Med Genet A; 2012 Feb; 158A(2):vii-viii. PubMed ID: 22266958
[No Abstract] [Full Text] [Related]
15. Haploinsufficiency of PSMD12 Causes Proteasome Dysfunction and Subclinical Autoinflammation.
Yan K; Zhang J; Lee PY; Tao P; Wang J; Wang S; Zhou Q; Dong M
Arthritis Rheumatol; 2022 Jun; 74(6):1083-1090. PubMed ID: 35080150
[TBL] [Abstract][Full Text] [Related]
16. Proteasome disorders and inborn errors of immunity.
Poli MC
Immunol Rev; 2024 Mar; 322(1):283-299. PubMed ID: 38071420
[TBL] [Abstract][Full Text] [Related]
17. Proteasome-associated autoinflammatory syndrome 2 in a neonate.
Zhang F; Ma N; Zhang L; Xia B; Yang R; Hu Y
Pediatr Dermatol; 2024; 41(1):166-168. PubMed ID: 38111302
[TBL] [Abstract][Full Text] [Related]
18. Rash, Fever, and Pulmonary Hypertension in a 6-Year-Old Female.
Buchbinder D; Montealegre Sanchez GA; Goldbach-Mansky R; Brunner H; Shulman AI
Arthritis Care Res (Hoboken); 2018 May; 70(5):785-790. PubMed ID: 29316368
[No Abstract] [Full Text] [Related]
19. Dysfunction in protein clearance by the proteasome: impact on autoinflammatory diseases.
Brehm A; Krüger E
Semin Immunopathol; 2015 Jul; 37(4):323-33. PubMed ID: 25963519
[TBL] [Abstract][Full Text] [Related]
20. Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.
Arima K; Kinoshita A; Mishima H; Kanazawa N; Kaneko T; Mizushima T; Ichinose K; Nakamura H; Tsujino A; Kawakami A; Matsunaka M; Kasagi S; Kawano S; Kumagai S; Ohmura K; Mimori T; Hirano M; Ueno S; Tanaka K; Tanaka M; Toyoshima I; Sugino H; Yamakawa A; Tanaka K; Niikawa N; Furukawa F; Murata S; Eguchi K; Ida H; Yoshiura K
Proc Natl Acad Sci U S A; 2011 Sep; 108(36):14914-9. PubMed ID: 21852578
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
