Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Open accessAbstract
Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis. In our comprehensive study, we identified 23 unique variants in PSMC5 , which encodes the AAA-ATPase proteasome subunit PSMC5/Rpt6, causing syndromic NDD in 38 unrelated individuals. Overexpression of PSMC5 variants altered human hippocampal neuron morphology, while PSMC5 knockdown led to impaired reversal learning in flies and loss of excitatory synapses in rat hippocampal neurons. PSMC5 loss-of-function resulted in abnormal protein aggregation, profoundly impacting innate immune signaling, mitophagy rates, and lipid metabolism in affected individuals. Importantly, targeting key components of the integrated stress response, such as PKR and GCN2 kinases, ameliorated immune dysregulations in cells from affected individuals. These findings significantly advance our understanding of the molecular mechanisms underlying neurodevelopmental proteasomopathies, provide links to research in neurodegenerative diseases, and open up potential therapeutic avenues.
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PSMC5 was previously associated with neurodevelopmental disorders.
“Although its MIM phenotype number is not associated with a specific phenotype, it was previously associated with neurodevelopmental disorders [7].”
From Strengthening the Role of PSMC5 as a Potential Gene Associated with Neurodevelopmental Disorders (2025) · cites this paper as [7]
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Deb, W., Rosenfelt, C., Vignard, V., Papendorf, J. J., Möller, S., Wendlandt, M., Studencka-Turski, M., Cogné, B., Besnard, T., Ruffier, L., et al. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.05.016 · Cited by 11 · see citing works
Self-citationStrengthening the Role of PSMC5 as a Potential Gene Associated with Neurodevelopmental Disorders
Vinci, M., Musumeci, A., Papa, C., Ragalmuto, A., Saccone, S., Federico, C., Greco, D., Greco, V., Calì, F., & Treccarichi, S. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26136386 · Cited by 2 · see citing works
“Although its MIM phenotype number is not associated with a specific phenotype, it was previously associated with neurodevelopmental disorders [7].”
- Authors
- Küry, S., Stanton, J. E., van Woerden, G., Hsieh, T.-C., Rosenfelt, C., Scott-Boyer, M. P., Most, V., Wang, T., Papendorf, J. J., de Konink, C., Deb, W., Vignard, V., Studencka-Turski, M., Besnard, T., Hajdukowicz, A. M., Thiel, F., Möller, S., Florenceau, L., Cuinat, S., Marsac, S., Wentzensen, I., Tuttle, A., Forster, C., Striesow, J., Golnik, R., Ortiz, D., Jenkins, L., Rosenfeld, J. A., Ziegler, A., Houdayer, C., Bonneau, D., Torti, E., Begtrup, A., Monaghan, K. G., Mullegama, S. V., Volker-Touw, C. M. L. (., van Gassen, K. L. I., Oegema, R., de Pagter, M., Steindl, K., Rauch, A., Ivanovski, I., McDonald, K., Boothe, E., Dauber, A., Baker, J., Fabie, N. A. V., Bernier, R. A., Turner, T. N., Srivastava, S., Dies, K. A., Swanson, L., Costin, C., Jobling, R. K., Pappas, J., Rabin, R., Niyazov, D., Tsai, A. C.-H., Kovak, K., Beck, D. B., Malicdan, M., Adams, D. R., Wolfe, L., Ganetzky, R. D., Muraresku, C., Babikyan, D., Sedláček, Z., Hančárová, M., Timberlake, A. T., Al Saif, H., Nestler, B., King, K., Hajianpour, M., Costain, G., Prendergast, D., Li, C., Geneviève, D., Vitobello, A., Sorlin, A., Philippe, C., Harel, T., Toker, O., Sabir, A., Lim, D., Hamilton, M., Bryson, L., Cleary, E., Weber, S., Hoffman, T. L., Cueto-González, A. M., Tizzano, E. F., Gómez-Andrés, D., Codina-Solà, M., Ververi, A., Pavlidou, E., Lambropoulos, A., Garganis, K., Rio, M., Levy, J., Jurgensmeyer, S., McRae, A. M., Lessard, M. K., D’Agostino, M. D., De Bie, I., Wegler, M., Jamra, R. A., Kamphausen, S. B., Bothe, V., Busch, L. M., Völker, U., Hammer, E., Wende, K., Cogné, B., Isidor, B., Meiler, J., Bosc-Rosati, A., Marcoux, J., Bousquet, M.-P., Poschmann, J., Laumonnier, F., Hildebrand, P. W., Eichler, E. E., McWalter, K., Krawitz, P. M., Droit, A., Elgersma, Y., Grabrucker, A. M., Bolduc, F. V., Bézieau, S., Ebstein, F., & Krüger, E.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- University of Limerick (IE)
- University of Bonn (DE)
- University of Alberta (CA)
- Leipzig University (DE)
- Peking University (CN)
- Universitätsmedizin Greifswald (DE)
- Centre Hospitalier Universitaire de Nantes (FR)
- Loyola University Chicago (US)
- Leibniz Institute for Plasma Science and Technology (DE)
- Children's Hospital of Pittsburgh (US)
- Baylor College of Medicine (US)
- Centre Hospitalier Universitaire de Reims (FR)
- Centre Hospitalier Universitaire d'Angers (FR)
- Utrecht University (NL)
- University of Zurich (CH)
- University of Louisville (US)
- University of Mississippi Medical Center (US)
- Children's National (US)
- Children's Minnesota (US)
- University of Washington (US)
- Washington University in St. Louis (US)
- Boston Children's Hospital (US)
- Akron Children's Hospital (US)
- Hospital for Sick Children (CA)
- NYU Langone Health (US)
- Duke University (US)
- University of Illinois Chicago (US)
- Oregon Health & Science University (US)
- New York University (US)
- National Institutes of Health (US)
- Children's Hospital of Philadelphia (US)
- Center of Medical Genetics and Primary Health Care (AM)
- Charles University (CZ)
- Virginia Commonwealth University (US)
- Albany Medical College (US)
- University of Toronto (CA)
- McMaster University (CA)
- Inserm (FR)
- Hebrew University of Jerusalem (IL)
- Birmingham Women's Hospital (GB)
- University of Birmingham (GB)
- NHS Greater Glasgow and Clyde (GB)
- Western General Hospital (GB)
- Centre Hospitalier Universitaire de Caen Normandie (FR)
- Kaiser Permanente (US)
- Vall d'Hebron Institut de Recerca (ES)
- Papageorgiou General Hospital (GR)
- University Hospital of Ioannina (GR)
- Aristotle University of Thessaloniki (GR)
- St. Luke's Hospital (GR)
- Hôpital Necker-Enfants Malades (FR)
- Northwestern University (US)
- Lurie Children's Hospital (US)
- McGill University (CA)
- University Hospital Leipzig (DE)
- University Hospital Magdeburg (DE)
- Vanderbilt University (US)
- Université de Tours (FR)
- Humboldt-Universität zu Berlin (DE)
- Howard Hughes Medical Institute (US)
- Université Laval (CA)
- Erasmus MC (NL)
- Corresponding author
- Küry, Sébastien
- Ebstein, Frédéric
- Krüger, Elke
- ORCID
- Küry, Sébastien
- Stanton, Janelle E.
- van Woerden, Geeske
- Hsieh, Tzung-Chien
- Rosenfelt, Cory
- Scott-Boyer, Marie Pier
- Most, Victoria
- Wang, Tianyun
- de Konink, Charlotte
- Deb, Wallid
- Vignard, Virginie
- Studencka-Turski, Maja
- Besnard, Thomas
- Thiel, Franziska
- Möller, Sophie
- Florenceau, Laëtitia
- Cuinat, Silvestre
- Wentzensen, Ingrid
- Tuttle, Annabelle
- Striesow, Johanna
- Golnik, Richard
- Rosenfeld, Jill A.
- Ziegler, Alban
- Houdayer, Clara
- Bonneau, Dominique
- Torti, Erin
- Begtrup, Amber
- Monaghan, Kristin G.
- Mullegama, Sureni V.
- van Gassen, Koen L. I.
- Oegema, Renske
- de Pagter, Mirjam
- Steindl, Katharina
- Rauch, Anita
- Ivanovski, Ivan
- McDonald, Kimberly
- Boothe, Emily
- Dauber, Andrew
- Bernier, Raphael A.
- Turner, Tychele N.
- Srivastava, Siddharth
- Dies, Kira A.
- Jobling, Rebekah K.
- Pappas, John
- Rabin, Rachel
- Niyazov, Dmitriy
- Tsai, Anne Chun-Hui
- Beck, David B.
- Malicdan, MCV
- Adams, David R.
- Wolfe, Lynne
- Ganetzky, Rebecca D.
- Muraresku, Colleen
- Babikyan, Davit
- Sedláček, Zdeněk
- Hančárová, Miroslava
- Timberlake, Andrew T.
- Hajianpour, MJ
- Costain, Gregory
- Li, Chumei
- Geneviève, David
- Vitobello, Antonio
- Sorlin, Arthur
- Philippe, Christophe
- Harel, Tamar
- Toker, Ori
- Sabir, Ataf
- Lim, Derek
- Hamilton, Mark
- Bryson, Lisa
- Cleary, Elaine
- Weber, Sacha
- Hoffman, Trevor L.
- Cueto-González, Anna Maria
- Tizzano, Eduardo Fidel
- Gómez-Andrés, David
- Codina-Solà, Marta
- Ververi, Athina
- Pavlidou, Efterpi
- Lambropoulos, Alexandros
- Garganis, Kyriakos
- Rio, Marlène
- Jurgensmeyer, Sarah
- McRae, Anne M.
- D’Agostino, Maria Daniela
- De Bie, Isabelle
- Wegler, Meret
- Jamra, Rami Abou
- Kamphausen, Susanne B.
- Bothe, Viktoria
- Busch, Larissa M.
- Völker, Uwe
- Hammer, Elke
- Wende, Kristian
- Cogné, Benjamin
- Isidor, Bertrand
- Meiler, Jens
- Bosc-Rosati, Amélie
- Marcoux, Julien
- Bousquet, Marie-Pierre
- Poschmann, Jeremie
- Laumonnier, Frédéric
- Hildebrand, Peter W.
- Eichler, Evan E.
- McWalter, Kirsty
- Krawitz, Peter M.
- Droit, Arnaud
- Elgersma, Ype
- Grabrucker, Andreas M.
- Bolduc, Francois V.
- Bézieau, Stéphane
- Ebstein, Frédéric
- Krüger, Elke
- Venue
- medRxiv
- Publisher
- openRxiv
- Published
- 2024-01-16
- PMC
- PMC10827246
- OpenAlex
- W4390907256
- Cited by
- 6
- References
- 49
- Citations by year
- 2025: 2 · 2024: 3 · 2023: 1
- Type
- posted content
- Language
- en
- Open access
- green
- doi.org
- Locations
- medRxiv (acceptedVersion)
- PubMed (publishedVersion)
- PubMed Central (submittedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion)
- Funders
- Agence Nationale de la Recherche (ANR-21-CE17-0005, ANR-22-RAR4-0001)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ubiquitin and proteasome pathways
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- Rpt6, 26S proteasome, AAA+ ATPase, proteostasis, neurodevelopmental disorders, hippocampal neurons, reversal learning, excitatory synapses, protein aggregation, innate immune signaling, mitophagy, lipid metabolism, integrated stress response, PKR, GCN2, loss-of-function mutations, neurodegenerative diseases
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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