PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Frédéric Ebstein; Sébastien Küry; Victoria Most; Cory Rosenfelt; Marie-Pier Scott-Boyer; Geeske M van Woerden; Thomas Besnard; Jonas Johannes Papendorf; Maja Studencka-Turski; Tianyun Wang; Tzung-Chien Hsieh; Richard Golnik; Dustin Baldridge; Cara Forster; Charlotte de Konink; Selina M W Teurlings; Virginie Vignard; Richard H van Jaarsveld; Lesley Ades; Benjamin Cogné; Cyril Mignot; Wallid Deb; Marjolijn C J Jongmans; F Sessions Cole; Marie-José H van den Boogaard; Jennifer A Wambach; Daniel J Wegner; Sandra Yang; Vickie Hannig; Jennifer Ann Brault; Neda Zadeh; Bruce Bennetts; Boris Keren; Anne-Claire Gélineau; Zöe Powis; Meghan Towne; Kristine Bachman; Andrea Seeley; Anita E Beck; Jennifer Morrison; Rachel Westman; Kelly Averill; Theresa Brunet; Judith Haasters; Melissa T Carter; Matthew Osmond; Patricia G Wheeler; Francesca Forzano; Shehla Mohammed; Yannis Trakadis; Andrea Accogli; Rachel Harrison; Yiran Guo; Hakon Hakonarson; Sophie Rondeau; Geneviève Baujat; Giulia Barcia; René Feichtinger; Johannes A. Mayr; Martin Preisel; Frédéric Laumonnier; Tilmann Kallinich; Alexej Knaus; Bertrand Isidor; Peter Krawitz; Uwe Völker; Elke Hammer; Arnaud Droit; Evan E Eichler; Ype Elgersma; Peter W Hildebrand; François Bolduc; Elke Krüger; Stéphane Bézieau

doi:10.1126/scitranslmed.abo3189

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Frédéric Ebstein
, Sébastien Küry
, Victoria Most
, Cory Rosenfelt
, Marie-Pier Scott-Boyer
, Geeske M van Woerden
, Thomas Besnard
, Jonas Johannes Papendorf
, Maja Studencka-Turski
, Tianyun Wang
, Tzung-Chien Hsieh
, Richard Golnik
, Dustin Baldridge
, Cara Forster
, Charlotte de Konink
, Selina M W Teurlings
, Virginie Vignard
, Richard H van Jaarsveld
, Lesley Ades
, Benjamin Cogné

Cyril Mignot, Wallid Deb, Marjolijn C J Jongmans, F Sessions Cole, Marie-José H van den Boogaard, Jennifer A Wambach, Daniel J Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T Carter, Matthew Osmond, Patricia G Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Feichtinger (Co-author), Johannes A. Mayr (Co-author), Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E Eichler, Ype Elgersma, Peter W Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau

Research output: Contribution to journal › Original Article › peer-review

25 Citations (Web of Science)

Original language	English
Pages (from-to)	eabo3189
Journal	SCIENCE TRANSLATIONAL MEDICINE
Volume	15
Issue number	698
DOIs	https://doi.org/10.1126/scitranslmed.abo3189
Publication status	Published - 31 May 2023

Keywords

AUTISM SPECTRUM DISORDERS
PROTEIN-KINASE
EXPRESSION
MUTATIONS
IMMUNOPROTEASOMES
NEURODEGENERATION
FLEXIBILITY
DEGRADATION
DISRUPTION
INHIBITORS
Gene Expression
Proteasome Endopeptidase Complex/metabolism
Humans
Adenosine Triphosphatases/genetics
Interferon Type I
Animals
Proteomics
Mice
Drosophila melanogaster

Access to Document

10.1126/scitranslmed.abo3189

Cite this

Ebstein, F., Küry, S., Most, V., Rosenfelt, C., Scott-Boyer, M.-P., van Woerden, G. M., Besnard, T., Papendorf, J. J., Studencka-Turski, M., Wang, T., Hsieh, T.-C., Golnik, R., Baldridge, D., Forster, C., de Konink, C., Teurlings, S. M. W., Vignard, V., van Jaarsveld, R. H., Ades, L., ... Bézieau, S. (2023). PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. SCIENCE TRANSLATIONAL MEDICINE, 15(698), eabo3189. https://doi.org/10.1126/scitranslmed.abo3189

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title = "PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.",

keywords = "AUTISM SPECTRUM DISORDERS, PROTEIN-KINASE, EXPRESSION, MUTATIONS, IMMUNOPROTEASOMES, NEURODEGENERATION, FLEXIBILITY, DEGRADATION, DISRUPTION, INHIBITORS, Gene Expression, Proteasome Endopeptidase Complex/metabolism, Humans, Adenosine Triphosphatases/genetics, Interferon Type I, Animals, Proteomics, Mice, Drosophila melanogaster",

author = "Fr{\'e}d{\'e}ric Ebstein and S{\'e}bastien K{\"u}ry and Victoria Most and Cory Rosenfelt and Marie-Pier Scott-Boyer and \{van Woerden\}, \{Geeske M\} and Thomas Besnard and Papendorf, \{Jonas Johannes\} and Maja Studencka-Turski and Tianyun Wang and Tzung-Chien Hsieh and Richard Golnik and Dustin Baldridge and Cara Forster and \{de Konink\}, Charlotte and Teurlings, \{Selina M W\} and Virginie Vignard and \{van Jaarsveld\}, \{Richard H\} and Lesley Ades and Benjamin Cogn{\'e} and Cyril Mignot and Wallid Deb and Jongmans, \{Marjolijn C J\} and Cole, \{F Sessions\} and \{van den Boogaard\}, \{Marie-Jos{\'e} H\} and Wambach, \{Jennifer A\} and Wegner, \{Daniel J\} and Sandra Yang and Vickie Hannig and Brault, \{Jennifer Ann\} and Neda Zadeh and Bruce Bennetts and Boris Keren and Anne-Claire G{\'e}lineau and Z{\"o}e Powis and Meghan Towne and Kristine Bachman and Andrea Seeley and Beck, \{Anita E\} and Jennifer Morrison and Rachel Westman and Kelly Averill and Theresa Brunet and Judith Haasters and Carter, \{Melissa T\} and Matthew Osmond and Wheeler, \{Patricia G\} and Francesca Forzano and Shehla Mohammed and Yannis Trakadis and Andrea Accogli and Rachel Harrison and Yiran Guo and Hakon Hakonarson and Sophie Rondeau and Genevi{\`e}ve Baujat and Giulia Barcia and Ren{\'e} Feichtinger and Mayr, \{Johannes A.\} and Martin Preisel and Fr{\'e}d{\'e}ric Laumonnier and Tilmann Kallinich and Alexej Knaus and Bertrand Isidor and Peter Krawitz and Uwe V{\"o}lker and Elke Hammer and Arnaud Droit and Eichler, \{Evan E\} and Ype Elgersma and Hildebrand, \{Peter W\} and Fran{\c c}ois Bolduc and Elke Kr{\"u}ger and St{\'e}phane B{\'e}zieau",

note = "Feichtinger Ren{\'e}, Mayr Johannes: University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.",

year = "2023",

month = may,

day = "31",

doi = "10.1126/scitranslmed.abo3189",

language = "English",

volume = "15",

pages = "eabo3189",

journal = "SCIENCE TRANSLATIONAL MEDICINE",

issn = "1946-6234",

number = "698",

}

Ebstein, F, Küry, S, Most, V, Rosenfelt, C, Scott-Boyer, M-P, van Woerden, GM, Besnard, T, Papendorf, JJ, Studencka-Turski, M, Wang, T, Hsieh, T-C, 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, M-JH, Wambach, JA, Wegner, DJ, Yang, S, Hannig, V, Brault, JA, Zadeh, N, Bennetts, B, Keren, B, Gélineau, A-C, 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, R , 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 2023, 'PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.', SCIENCE TRANSLATIONAL MEDICINE, vol. 15, no. 698, pp. eabo3189. https://doi.org/10.1126/scitranslmed.abo3189

TY - JOUR

T1 - PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

AU - Ebstein, Frédéric

AU - Küry, Sébastien

AU - Most, Victoria

AU - Rosenfelt, Cory

AU - Scott-Boyer, Marie-Pier

AU - van Woerden, Geeske M

AU - Besnard, Thomas

AU - Papendorf, Jonas Johannes

AU - Studencka-Turski, Maja

AU - Wang, Tianyun

AU - Hsieh, Tzung-Chien

AU - Golnik, Richard

AU - Baldridge, Dustin

AU - Forster, Cara

AU - de Konink, Charlotte

AU - Teurlings, Selina M W

AU - Vignard, Virginie

AU - van Jaarsveld, Richard H

AU - Ades, Lesley

AU - Cogné, Benjamin

AU - Mignot, Cyril

AU - Deb, Wallid

AU - Jongmans, Marjolijn C J

AU - Cole, F Sessions

AU - van den Boogaard, Marie-José H

AU - Wambach, Jennifer A

AU - Wegner, Daniel J

AU - Yang, Sandra

AU - Hannig, Vickie

AU - Brault, Jennifer Ann

AU - Zadeh, Neda

AU - Bennetts, Bruce

AU - Keren, Boris

AU - Gélineau, Anne-Claire

AU - Powis, Zöe

AU - Towne, Meghan

AU - Bachman, Kristine

AU - Seeley, Andrea

AU - Beck, Anita E

AU - Morrison, Jennifer

AU - Westman, Rachel

AU - Averill, Kelly

AU - Brunet, Theresa

AU - Haasters, Judith

AU - Carter, Melissa T

AU - Osmond, Matthew

AU - Wheeler, Patricia G

AU - Forzano, Francesca

AU - Mohammed, Shehla

AU - Trakadis, Yannis

AU - Accogli, Andrea

AU - Harrison, Rachel

AU - Guo, Yiran

AU - Hakonarson, Hakon

AU - Rondeau, Sophie

AU - Baujat, Geneviève

AU - Barcia, Giulia

AU - Feichtinger, René

AU - Mayr, Johannes A.

AU - Preisel, Martin

AU - Laumonnier, Frédéric

AU - Kallinich, Tilmann

AU - Knaus, Alexej

AU - Isidor, Bertrand

AU - Krawitz, Peter

AU - Völker, Uwe

AU - Hammer, Elke

AU - Droit, Arnaud

AU - Eichler, Evan E

AU - Elgersma, Ype

AU - Hildebrand, Peter W

AU - Bolduc, François

AU - Krüger, Elke

AU - Bézieau, Stéphane

N1 - Feichtinger René, Mayr Johannes: University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.

PY - 2023/5/31

Y1 - 2023/5/31

KW - AUTISM SPECTRUM DISORDERS

KW - PROTEIN-KINASE

KW - EXPRESSION

KW - MUTATIONS

KW - IMMUNOPROTEASOMES

KW - NEURODEGENERATION

KW - FLEXIBILITY

KW - DEGRADATION

KW - DISRUPTION

KW - INHIBITORS

KW - Gene Expression

KW - Proteasome Endopeptidase Complex/metabolism

KW - Humans

KW - Adenosine Triphosphatases/genetics

KW - Interferon Type I

KW - Animals

KW - Proteomics

KW - Mice

KW - Drosophila melanogaster

U2 - 10.1126/scitranslmed.abo3189

DO - 10.1126/scitranslmed.abo3189

M3 - Original Article

C2 - 37256937

SN - 1946-6234

VL - 15

SP - eabo3189

JO - SCIENCE TRANSLATIONAL MEDICINE

JF - SCIENCE TRANSLATIONAL MEDICINE

IS - 698

ER -