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
Deficiency of psmb6 suppresses proteasome activity and promotes apoptosis in larval zebrafish brain.
Xiao W et al.
Biochemical and Biophysical Research Communications, 2025
Molecular dynamics simulation of wild and mutant proteasome subunit beta type 8 (PSMB8) protein: Implications for restoration of inflammation in experimental autoimmune encephalomyelitis pathogenesis.
Paul SK et al.
Heliyon, 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
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment.
Zhang J et al.
Journal of Clinical Immunology, 2024
Autoinflammatory Diseases Due to Defects in Degradation or Transport of Intracellular Proteins.
Sasaki I et al.
Advances in Experimental Medicine and Biology, 2024
Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience.
Miyamoto T et al.
Frontiers in Immunology, 2022
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
Kanazawa N et al.
Nature Communications, 2021
Pluripotent stem cell-based screening identifies CUDC-907 as an effective compound for restoring the in vitro phenotype of Nakajo-Nishimura syndrome.
Kase N et al.
Stem Cells Translational Medicine, 2021
Myositis with sarcoplasmic inclusions in Nakajo-Nishimura syndrome: a genetic inflammatory myopathy.
Ayaki T et al.
Neuropathology and Applied Neurobiology, 2020
Synergistic gene editing in human iPS cells via cell cycle and DNA repair modulation.
Maurissen TL et al.
Nature Communications, 2020
Induced pluripotent stem cells representing Nakajo-Nishimura syndrome.
Kanazawa N et al.
Inflammation and Regeneration, 2019
Nakajo-Nishimura syndrome and related proteasome-associated autoinflammatory syndromes.
Ohmura K
Journal of Inflammation Research, 2019
Pluripotent Stem Cell Model of Nakajo-Nishimura Syndrome Untangles Proinflammatory Pathways Mediated by Oxidative Stress.
Honda-Ozaki F et al.
Stem Cell Reports, 2018
An Update on Autoinflammatory Diseases: Interferonopathies.
Davidson S et al.
Current Rheumatology Reports, 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
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
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
Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management.
McDermott A et al.
International Journal of Dermatology, 2015
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
Gene hunting in autoinflammation.
Standing A et al.
Clinical and Translational Allergy, 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
A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.
Kitamura A et al.
The Journal of Clinical Investigation, 2011
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