Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management

Nakajo-Nishimura Syndrome: An Autoinflammatory Disorder Showing Pernio-Like Rashes and Progressive Partial Lipodystrophy

(2015) Nobuo Kanazawa   ALLERGOLOGY INTERNATIONAL

A case of periodic-fever-syndrome-like disorder with lipodystrophy, myositis, and autoimmune abnormalities

(2014) Shimpei Kasagi et al.   Modern Rheumatology

A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations

(2013) Amelia McDermott et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Immuno- and Constitutive Proteasome Crystal Structures Reveal Differences in Substrate and Inhibitor Specificity

(2012) Eva M. Huber et al.   CELL

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity

(2011) Yin Liu et al.   ARTHRITIS AND RHEUMATISM

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

(2011) Akiko Kitamura et al.   JOURNAL OF CLINICAL INVESTIGATION

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome

(2011) K. Arima et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

(2010) Anil K. Agarwal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Immunoproteasomes Preserve Protein Homeostasis upon Interferon-Induced Oxidative Stress

(2010) Ulrike Seifert et al.   CELL

An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated Lipodystrophy

(2010) Abhimanyu Garg et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome

(2010) Antonio Torrelo et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

A selective inhibitor of the immunoproteasome subunit LMP7 blocks cytokine production and attenuates progression of experimental arthritis

(2009) Tony Muchamuel et al.   NATURE MEDICINE