Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)

Mutations in genes coding for proteasome subunits and/or proteasome assembly helpers typically cause recurring autoinflammation referred to as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) or proteasome-associated autoinflammatory syndrome (PRAAS). Pa...

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Detalles Bibliográficos
Autores principales: Papendorf, Jonas Johannes, Ebstein, Frédéric, Alehashemi, Sara, Piotto, Daniela Gerent Petry, Kozlova, Anna, Terreri, Maria Teresa, Shcherbina, Anna, Rastegar, Andre, Rodrigues, Marta, Pereira, Renan, Park, Sophia, Lin, Bin, Uss, Kat, Möller, Sophie, da Silva Pina, Ana Flávia, Sztajnbok, Flavio, Torreggiani, Sofia, Niemela, Julie, Stoddard, Jennifer, Rosenzweig, Sergio D., Oler, Andrew J., McNinch, Colton, de Guzman, Marietta M., Fonseca, Adriana, Micheloni, Nicole, Fraga, Melissa Mariti, Perazzio, Sandro Félix, Goldbach-Mansky, Raphaela, de Jesus, Adriana A., Krüger, Elke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10436547/
https://www.ncbi.nlm.nih.gov/pubmed/37600812
http://dx.doi.org/10.3389/fimmu.2023.1190104

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10436547/
https://www.ncbi.nlm.nih.gov/pubmed/37600812
http://dx.doi.org/10.3389/fimmu.2023.1190104

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