Associated Papers
Recent Insights into Mechanisms Regulating the Proteasome: Implications for Human Disease.
Sumikama R et al.
Molecular and Cellular Biology, 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
Proteasome dysfunction in T cells causes immunodeficiency via cell cycle disruption and apoptosis.
Shinebaatar E et al.
International Immunology, 2025
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.
Poli MC et al.
Journal of Human Immunity, 2025
The DYT6 dystonia causative protein THAP1 is responsible for proteasome activity via PSMB5 transcriptional regulation.
Wang Y et al.
Nature Communications, 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
Interferonopathies: From concept to clinical practice.
Mendonça LO et al.
Best Practice & Research. Clinical Rheumatology, 2024
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment.
Zhang J et al.
Journal of Clinical Immunology, 2024
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
van der Made CI et al.
American Journal of Human Genetics, 2024
Proteasome disorders and inborn errors of immunity.
Poli MC
Immunological Reviews, 2024
Autoinflammatory Diseases Due to Defects in Degradation or Transport of Intracellular Proteins.
Sasaki I et al.
Advances in Experimental Medicine and Biology, 2024
The link between rheumatic disorders and inborn errors of immunity.
Sogkas G et al.
Ebiomedicine, 2023
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
Hebert A et al.
Elife, 2022
Hematopoietic stem cell transplantation in systemic autoinflammatory diseases - the first one hundred transplanted patients.
Signa S et al.
Expert Review of Clinical 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
Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor.
Kataoka S et al.
The Journal of Allergy and Clinical Immunology, 2021
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2021