Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment-Reference-Cited by-同舟云学术

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Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment

Published:2024-04-05 Issue:4 Volume:44 Page:
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Zhang Jiahui,Tao Panfeng,Deuitch Natalie T.,Yu Xiaomin,Askentijevich Ivona,Zhou Qing

Funder

The National Natural Science Foundation of China

China Postdoctoral Science Foundation

Hundred-Talent Program of Zhejiang University

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s10875-024-01692-y.pdf

Reference85 articles.

1. Rousseau A, Bertolotti A. Regulation of proteasome assembly and activity in health and disease. Nat Rev Mol Cell Bio. 2018;19:697–712.

2. Torrelo A. CANDLE syndrome as a paradigm of proteasome-related autoinflammation. Front Immunol. 2017;8:927.

3. Ohmura K. Nakajo-Nishimura syndrome and related proteasome-associated autoinflammatory syndromes. J Inflamm Res. 2019;12:259–65.

4. Agarwal AK, Xing C, DeMartino GN, Mizrachi D, Hernandez MD, Sousa AB, et al. PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genetics. 2010;87:866–72.

5. Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, et al. Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc National Acad Sci. 2011;108:14914–9.

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