Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

van der Made, Caspar I.; Kersten, Simone; Chorin, Odelia; Engelhardt, Karin R.; Ramakrishnan, Gayatri; Griffin, Helen; Schim van der Loeff, Ina; Venselaar, Hanka; Rothschild, Annick Raas; Segev, Meirav; Schuurs-Hoeijmakers, Janneke H.M.; Mantere, Tuomo; Essers, Rick; Esteki, Masoud Zamani; Avital, Amir L.; Loo, Peh Sun; Simons, Annet; Pfundt, Rolph; Warris, Adilia; Seyger, Marieke M.; van de Veerdonk, Frank L.; Netea, Mihai G.; Slatter, Mary A.; Flood, Terry; Gennery, Andrew R.; Simon, Amos J.; Lev, Atar; Frizinsky, Shirley; Barel, Ortal; van der Burg, Mirjam; Somech, Raz; Hambleton, Sophie; Henriet, Stefanie S.V.; Hoischen, Alexander

doi:10.1016/j.ajhg.2024.02.013

The American Journal of Human Genetics

2024

DOI: 10.1016/j.ajhg.2024.02.013

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Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

Caspar I. van der Made,

Simone Kersten,

Odelia Chorin

et al.

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Cited by 4 publications

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Expanding the diagnostic toolbox for complex genetic immune disorders

Abrams,

Basu,

Zavorka Thomas

et al. 2024

Journal of Allergy and Clinical Immunology

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Expanding the diagnostic toolbox for complex genetic immune disorders

Abrams,

Basu,

Zavorka Thomas

et al. 2024

Journal of Allergy and Clinical Immunology

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Structural Analysis of the 20S Proteasome Using Native Mass Spectrometry and Ultraviolet Photodissociation

Walker,

Gautam,

Matouschek

et al. 2024

J. Proteome Res.

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Owing to the role of the 20S proteasome in a wide spectrum of pathologies, including neurodegenerative disorders, proteasome-associated autoinflammatory syndromes (PRAAS), and cardiovascular diseases, understanding how its structure and composition contribute to dysfunction is crucial. As a 735 kDa protein assembly, the 20S proteasome facilitates normal cellular proteostasis by degrading oxidized and misfolded proteins. Declined proteasomal activity, which can be attributed to perturbations in the structural integrity of the 20S proteasome, is considered one of the main contributors to multiple proteasomerelated diseases. Devising methods to characterize the structures of 20S proteasomes provides necessary insight for the development of drugs and inhibitors that restore proper proteasomal function. Here, native mass spectrometry was combined with multiple dissociation techniques, including ultraviolet photodissociation (UVPD), to identify the protein subunits comprising the 20S proteasome. UVPD, demonstrating an ability to uncover structural features of large (>300 kDa) macromolecular complexes, provided complementary information to conventional collision-based methods. Additionally, variable-temperature electrospray ionization was combined with UV photoactivation to study the influence of solution temperature on the stability of the 20S proteasome.

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Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus

Goldbach-Mansky,

Alehashemi,

de Jesus

2024

Nat Rev Rheumatol

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Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

Cited by 4 publications

References 48 publications

Expanding the diagnostic toolbox for complex genetic immune disorders

Expanding the diagnostic toolbox for complex genetic immune disorders

Structural Analysis of the 20S Proteasome Using Native Mass Spectrometry and Ultraviolet Photodissociation

Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus

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