Associated Papers
Proteasome-associated autoinflammatory syndromes: The impact of mutations in proteasome subunits on particle assembly, structure, and activity.
Huber EM et al.
Structure (london, England : 1993), 2025
A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis.
Wolfgramm S et al.
Annals of the Rheumatic Diseases, 2025
A new digenic inheritance of proteasome-associated autoinflammatory syndrome involving the PSMA6 gene.
Méchin D et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2025
Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis.
Winkler CW et al.
Biorxiv : the Preprint Server for Biology, 2025
Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives.
Cuinat S et al.
Genes & Diseases, 2024
Genetic Approaches to Study Rheumatic Diseases and Its Implications in Clinical Practice.
Rowczenio D et al.
Arthritis & Rheumatology (hoboken, N.j.), 2024
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment.
Zhang J et al.
Journal of Clinical Immunology, 2024
Proteasome disorders and inborn errors of immunity.
Poli MC
Immunological Reviews, 2024
[Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction].
Cuinat S et al.
Medecine Sciences : M/s, 2024
Establishing 20S Proteasome Genetic, Translational and Post-Translational Status from Precious Biological and Patient Samples with Top-Down MS.
Dafun AS et al.
Cells, 2023
Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
Papendorf JJ et al.
Frontiers in Immunology, 2023
Human induced pluripotent stem cells generated from Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome patients with a homozygous mutation in the PSMB8 gene (NIHTVBi016-A, NIHTVBi017-A, NIHTVBi018-A).
Yu Q et al.
Stem Cell Research, 2022
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
Kanazawa N et al.
Nature Communications, 2021
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2021
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.
de Jesus AA et al.
The Journal of Clinical Investigation, 2020
Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.
Wang W et al.
Frontiers in Immunology, 2020
Nakajo-Nishimura syndrome and related proteasome-associated autoinflammatory syndromes.
Ohmura K
Journal of Inflammation Research, 2019
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
An Update on Autoinflammatory Diseases: Interferonopathies.
Davidson S et al.
Current Rheumatology Reports, 2018
A homozygous mutation in the PSMB8 gene in a case with proteasome-associated autoinflammatory syndrome.
Contreras-Cubas C et al.
Scandinavian Journal of Rheumatology, 2018
Association and expression of the antigen-processing gene PSMB8, coding for low-molecular-mass protease 7, with vitiligo in North India: case-control study.
Dani P et al.
The British Journal of Dermatology, 2018
Monogenic interferonopathies: Phenotypic and genotypic findings of CANDLE syndrome and its overlap with C1q deficient SLE.
Al-Mayouf SM et al.
International Journal of Rheumatic Diseases, 2018
Understanding mutational effects in digenic diseases.
Gazzo A et al.
Nucleic Acids Research, 2017
Genetic interferonopathies: An overview.
Eleftheriou D et al.
Best Practice & Research. Clinical Rheumatology, 2017
[Clinical aspects and genetics of proteasome-associated autoinflammatory syndromes (PRAAS)].
Feist E et al.
Zeitschrift Fur Rheumatologie, 2017
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Martorana D et al.
Frontiers in Immunology, 2017
CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation.
Torrelo A
Frontiers in Immunology, 2017
Type I interferonopathies in pediatric rheumatology.
Volpi S et al.
Pediatric Rheumatology Online Journal, 2016
Dysfunctional immunoproteasomes in autoinflammatory diseases.
Arimochi H et al.
Inflammation and Regeneration, 2016
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
Brehm A et al.
The Journal of Clinical Investigation, 2015
Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management.
McDermott A et al.
International Journal of Dermatology, 2015
CANDLE syndrome: an extended clinical spectrum.
Wang H et al.
Rheumatology (oxford, England), 2014
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature.
Kluk J et al.
The British Journal of Dermatology, 2014
Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation.
Sanchez GA et al.
Rheumatic Diseases Clinics of North America, 2013
The expanding spectrum of rare monogenic autoinflammatory diseases.
Touitou I et al.
Orphanet Journal of Rare Diseases, 2013
A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations.
McDermott A et al.
Journal of the American Academy of Dermatology, 2013
Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature.
Touitou I
Journal of Medical Genetics, 2013
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Almeida de Jesus A et al.
Clinical Immunology (orlando, Fla.), 2013
A new infant case of Nakajo-Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations.
Kunimoto K et al.
Dermatology (basel, Switzerland), 2013
Rare hereditary autoinflammatory disorders: towards an understanding of critical in vivo inflammatory pathways.
Kanazawa N
Journal of Dermatological Science, 2012
Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy.
Kanazawa N
Allergology International : Official Journal of the Japanese Society of Allergology, 2012
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.
Liu Y et al.
Arthritis and Rheumatism, 2012
Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1.
Goldbach-Mansky R
Clinical and Experimental Immunology, 2012
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.
Arima K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
[Nakajo-Nishimura syndrome].
Kanazawa N et al.
Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2011
PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.
Agarwal AK et al.
American Journal of Human Genetics, 2010