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Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
medRxiv [Preprint]. 2024 Jan 26:2024.01.13.24301174. doi: 10.1101/2024.01.13.24301174.
medRxiv. 2024.
PMID: 38293138
Free PMC article.
Preprint.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S.
Ebstein F, et al. Among authors: papendorf jj.
Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31.
Sci Transl Med. 2023.
PMID: 37256937
Free PMC article.
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Proteostasis Perturbations and Their Roles in Causing Sterile Inflammation and Autoinflammatory Diseases.
Papendorf JJ, Krüger E, Ebstein F.
Papendorf JJ, et al.
Cells. 2022 Apr 22;11(9):1422. doi: 10.3390/cells11091422.
Cells. 2022.
PMID: 35563729
Free PMC article.
Review.
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Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune Dysregulation to Disease Pathogenesis.
Ebstein F, Küry S, Papendorf JJ, Krüger E.
Ebstein F, et al. Among authors: papendorf jj.
Front Mol Neurosci. 2021 Sep 8;14:733012. doi: 10.3389/fnmol.2021.733012. eCollection 2021.
Front Mol Neurosci. 2021.
PMID: 34566579
Free PMC article.
Review.
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Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
Papendorf JJ, Ebstein F, Alehashemi S, Piotto DGP, Kozlova A, Terreri MT, Shcherbina A, Rastegar A, Rodrigues M, Pereira R, Park S, Lin B, Uss K, Möller S, da Silva Pina AF, Sztajnbok F, Torreggiani S, Niemela J, Stoddard J, Rosenzweig SD, Oler AJ, McNinch C, de Guzman MM, Fonseca A, Micheloni N, Fraga MM, Perazzio SF, Goldbach-Mansky R, de Jesus AA, Krüger E.
Papendorf JJ, et al.
Front Immunol. 2023 Aug 4;14:1190104. doi: 10.3389/fimmu.2023.1190104. eCollection 2023.
Front Immunol. 2023.
PMID: 37600812
Free PMC article.
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Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS).
Verhoeven D, Schonenberg-Meinema D, Ebstein F, Papendorf JJ, Baars PA, van Leeuwen EMM, Jansen MH, Lankester AC, van der Burg M, Florquin S, Maas SM, van Koningsbruggen S, Krüger E, van den Berg JM, Kuijpers TW.
Verhoeven D, et al. Among authors: papendorf jj.
J Allergy Clin Immunol. 2022 Mar;149(3):1120-1127.e8. doi: 10.1016/j.jaci.2021.07.039. Epub 2021 Aug 17.
J Allergy Clin Immunol. 2022.
PMID: 34416217
Free article.
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