Proteomics

Dataset Information

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Impact of de novo variants in the PSMC5 coding the AAA-ATPase proteasome subunit PSMC5/Rpt6 on the protein pattern of patient-derived primary T-cells in comparison to their wild-type counterparts.

ABSTRACT: To better understand the cellular consequences of mutations in the AAA-ATPase proteasome subunit PSMC5/Rpt6, we performed a mass spectrometry-based comparative analysis of the T-cell proteome of subjects with PSMC5 mutations to that of their wild-type counterparts.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): T Cell

SUBMITTER: Elke Hammer  

LAB HEAD: Elke Hammer

PROVIDER: PXD048558 | Pride | 2025-08-07

REPOSITORIES: Pride

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Dataset's files

Source:
Action DRS
20191209_HF_EH_BCH_10_PSMC5_JFL_Mut.raw Raw
20191209_HF_EH_BCH_15_PSMC5_JFL_Co.raw Raw
20191209_HF_EH_BCH_16_PSMC3_mo_Co_VAU.raw Raw
20191209_HF_EH_BCH_7_PSMC5_Co_BC.raw Raw
Report_FunGene_Report_complex_PSMC5.xls Xls
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Publications

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathies.

Küry Sébastien S   Stanton Janelle E JE   van Woerden Geeske G   Hsieh Tzung-Chien TC   Rosenfelt Cory C   Scott-Boyer Marie Pier MP   Most Victoria V   Wang Tianyun T   Papendorf Jonas Johannes JJ   de Konink Charlotte C   Deb Wallid W   Vignard Virginie V   Studencka-Turski Maja M   Besnard Thomas T   Hajdukowicz Anna Marta AM   Thiel Franziska F   Möller Sophie S   Florenceau Laëtitia L   Cuinat Silvestre S   Marsac Sylvain S   Wentzensen Ingrid I   Tuttle Annabelle A   Forster Cara C   Striesow Johanna J   Golnik Richard R   Ortiz Damara D   Jenkins Laura L   Rosenfeld Jill A JA   Ziegler Alban A   Houdayer Clara C   Bonneau Dominique D   Torti Erin E   Begtrup Amber A   Monaghan Kristin G KG   Mullegama Sureni V SV   Volker-Touw C M L Nienke CMLN   van Gassen Koen L I KLI   Oegema Renske R   de Pagter Mirjam M   Steindl Katharina K   Rauch Anita A   Ivanovski Ivan I   McDonald Kimberly K   Boothe Emily E   Dauber Andrew A   Baker Janice J   Fabie Noelle Andrea V NAV   Bernier Raphael A RA   Turner Tychele N TN   Srivastava Siddharth S   Dies Kira A KA   Swanson Lindsay L   Costin Carrie C   Jobling Rebekah K RK   Pappas John J   Rabin Rachel R   Niyazov Dmitriy D   Tsai Anne Chun-Hui AC   Kovak Karen K   Beck David B DB   Malicdan McV M   Adams David R DR   Wolfe Lynne L   Ganetzky Rebecca D RD   Muraresku Colleen C   Babikyan Davit D   Sedláček Zdeněk Z   Hančárová Miroslava M   Timberlake Andrew T AT   Al Saif Hind H   Nestler Berkley B   King Kayla K   Hajianpour M J MJ   Costain Gregory G   Prendergast D'Arcy D   Li Chumei C   Geneviève David D   Vitobello Antonio A   Sorlin Arthur A   Philippe Christophe C   Harel Tamar T   Toker Ori O   Sabir Ataf A   Lim Derek D   Hamilton Mark M   Bryson Lisa L   Cleary Elaine E   Weber Sacha S   Hoffman Trevor L TL   Cueto-González Anna Maria AM   Tizzano Eduardo Fidel EF   Gómez-Andrés David D   Codina-Solà Marta M   Ververi Athina A   Pavlidou Efterpi E   Lambropoulos Alexandros A   Garganis Kyriakos K   Rio Marlène M   Levy Jonathan J   Jurgensmeyer Sarah S   McRae Anne M AM   Lessard Mathieu Kent MK   D'Agostino Maria Daniela MD   De Bie Isabelle I   Wegler Meret M   Jamra Rami Abou RA   Kamphausen Susanne B SB   Bothe Viktoria V   Busch Larissa M LM   Völker Uwe U   Hammer Elke E   Wende Kristian K   Cogné Benjamin B   Isidor Bertrand B   Meiler Jens J   Bosc-Rosati Amélie A   Marcoux Julien J   Bousquet Marie-Pierre MP   Poschmann Jeremie J   Laumonnier Frédéric F   Hildebrand Peter W PW   Eichler Evan E EE   McWalter Kirsty K   Krawitz Peter M PM   Droit Arnaud A   Elgersma Ype Y   Grabrucker Andreas M AM   Bolduc Francois V FV   Bézieau Stéphane S   Ebstein Frédéric F   Krüger Elke E  

medRxiv : the preprint server for health sciences 20240126

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 <i>PSMC5</i> , which encodes the AAA-ATPase proteasome subunit PSMC5/Rpt6, causing syndromic NDD in 38 unrelated individuals. Overexpression of <i>PSMC5</i> variants altered human hippocampal neur  ...[more]

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