Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
暂无分享,去创建一个
E. Remmers | D. Kastner | A. Mégarbané | E. Krüger | K. Rother | Yin Liu | M. Gadina | S. Moir | P. Hildebrand | L. Kardava | A. Biancotto | A. Zlotogorski | R. Wesley | S. Hill | D. Stone | D. Chapelle | R. Goldbach-Mansky | A. Torrelo | H. Lachmann | J. Chae | C. Lee | Y. Huang | P. Brogan | Qing Zhou | I. Aksentijevich | M. Pelletier | W. Tsai | F. Sotzny | Hanna Kim | Á. Casaño | A. Brehm | Yongqing Chen | Adriana Almeida de Jesus | E. Omoyinmi | A. Reinhardt | B. Marrero | Diane E. Brown | Ling Gao | Afzal Sheikh | P. McCoy | Franziska Sotzny | G. Montealegre | Rhina D. Castillo | J. Brady
[1] E. Krüger,et al. Dysfunction in protein clearance by the proteasome: impact on autoinflammatory diseases , 2015, Seminars in Immunopathology.
[2] Yin Liu,et al. Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling. , 2015, Annual review of immunology.
[3] D. Stetson,et al. The enemy within: endogenous retroelements and autoimmune disease , 2014, Nature Immunology.
[4] M. Rustin,et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature , 2014, The British journal of dermatology.
[5] A. Vanderver,et al. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study , 2013, The Lancet Neurology.
[6] P. Emanuel,et al. A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations. , 2013, Journal of the American Academy of Dermatology.
[7] A. Ciechanover. Intracellular protein degradation: from a vague idea through the lysosome and the ubiquitin-proteasome system and onto human diseases and drug targeting. , 2013, Bioorganic & medicinal chemistry.
[8] Ibrahim Osman Adam,et al. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. , 2013, The New England journal of medicine.
[9] P. Kloetzel,et al. Immunoproteasomes Are Important for Proteostasis in Immune Responses , 2013, Cell.
[10] Daniel G. Miller,et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 , 2012, Nature Genetics.
[11] P. Kloetzel,et al. Emerging roles of immunoproteasomes beyond MHC class I antigen processing , 2012, Cellular and Molecular Life Sciences.
[12] A. Paller,et al. Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. , 2012, Arthritis and rheumatism.
[13] Ricarda Schwab,et al. Immuno- and Constitutive Proteasome Crystal Structures Reveal Differences in Substrate and Inhibitor Specificity , 2012, Cell.
[14] P. Kloetzel,et al. Immunoproteasomes at the interface of innate and adaptive immune responses: two faces of one enzyme. , 2012, Current opinion in immunology.
[15] D. Standley,et al. A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. , 2011, The Journal of clinical investigation.
[16] P. Kloetzel,et al. Impairment of Immunoproteasome Function by β5i/LMP7 Subunit Deficiency Results in Severe Enterovirus Myocarditis , 2011, PLoS pathogens.
[17] N. Niikawa,et al. Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome , 2011, Proceedings of the National Academy of Sciences.
[18] A. Garg,et al. PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. , 2010, American journal of human genetics.
[19] P. Kloetzel,et al. Immunoproteasomes Preserve Protein Homeostasis upon Interferon-Induced Oxidative Stress , 2010, Cell.
[20] T. Raivio,et al. Complex genetics in idiopathic hypogonadotropic hypogonadism. , 2010, Frontiers of hormone research.
[21] D. Kastner,et al. Autoinflammatory Disease Reloaded: A Clinical Perspective , 2010, Cell.
[22] Khalid W. Kalim,et al. A selective inhibitor of the immunoproteasome subunit LMP7 blocks cytokine production and attenuates progression of experimental arthritis , 2009, Nature Medicine.
[23] Elke Krüger,et al. The proteasome maturation protein POMP facilitates major steps of 20S proteasome formation at the endoplasmic reticulum , 2007, EMBO reports.
[24] A. Goldberg. Functions of the proteasome: from protein degradation and immune surveillance to cancer therapy. , 2007, Biochemical Society transactions.
[25] S. Holland,et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. , 2006, The New England journal of medicine.
[26] Torsten Schwede,et al. The SWISS-MODEL Repository: new features and functionalities , 2005, Nucleic Acids Res..
[27] P. Kloetzel,et al. IFN-gamma-induced immune adaptation of the proteasome system is an accelerated and transient response. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[28] R. Dohmen,et al. Role of C-terminal Extensions of Subunits β2 and β7 in Assembly and Activity of Eukaryotic Proteasomes* , 2004, Journal of Biological Chemistry.
[29] M. Konrad,et al. Salt wasting and deafness resulting from mutations in two chloride channels. , 2004, The New England journal of medicine.
[30] T. Hayashi,et al. Central role of defective apoptosis in autoimmunity. , 2003, Journal of molecular endocrinology.
[31] T. Mizushima,et al. The structure of the mammalian 20S proteasome at 2.75 A resolution. , 2002, Structure.
[32] E. Chouery,et al. An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy. , 2002, The Journal of rheumatology.
[33] M. Ferrantini,et al. IFN‐α2a 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 , 2002, Journal of Leukocyte Biology.
[34] F. Moreno,et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. , 2002, The New England journal of medicine.
[35] Bethan E. Hoskins,et al. Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder , 2001, Science.
[36] M. Kurimoto,et al. IFN‐α and IL‐18 synergistically enhance IFN‐γ production in human NK cells: differential regulation of Stat4 activation and IFN‐γ gene expression by IFN‐α and IL‐12 , 2001 .
[37] K. Melén,et al. Inflammatory responses in influenza A virus infection. , 2000, Vaccine.
[38] A. Ballabio,et al. Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. , 1999, American journal of human genetics.
[39] L. Kaer,et al. Immunoproteasome Assembly: Cooperative Incorporation of Interferon γ (IFN-γ)–inducible Subunits , 1998, The Journal of experimental medicine.
[40] K. Rajewsky,et al. MHC class I expression in mice lacking the proteasome subunit LMP-7. , 1994, Science.
[41] T. Dryja,et al. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. , 1994, Science.
[42] K. Tanaka,et al. Interferon-gamma induces different subunit organizations and functional diversity of proteasomes. , 1994, Journal of biochemistry.
[43] J. Monaco,et al. Homology of proteasome subunits to a major histocompatibility complex-linked LMP gene , 1991, Nature.
[44] S. Beck,et al. A proteasome-related gene between the two ABC transporter loci in the class II region of the human MHC , 1991, Nature.
[45] J. Monaco,et al. Structural and serological similarity of MHC-linked LMP and proteasome (multicatalytic proteinase) complexes , 1991, Nature.
[46] X. Liu,et al. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. , 2005, Human molecular genetics.