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ProteomicsImpact 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.
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.
ORGANISM(S): Homo sapiens (Human) 
2025-08-07 | PXD048558 | Pride
Protein homeostasis Psmc5 variants Proteasome Primary t-cells 
TranscriptomicsTranscriptional analysis of T cells derived from individuals with neurodevelopmental disorder carrying de novo heterozygous PSMC5 variants.
Gene expression profiling on T cells to investigate the effects of PSMC5 missense variants on the immune system using the Nanostring nCounter® Human AutoImmune Profiling Panel.
ORGANISM(S): Homo sapiens 
2025-09-07 | GSE306813 | GEO
GenomicsTranscriptional analysis of T cells derived from individuals with neurodevelopmental disorder carrying de novo heterozygous PSMC5 variants.
Transcriptional analysis of T cells derived from individuals with neurodevelopmental disorder carrying de novo heterozygous PSMC5 variants.
PRJNA1312427 | ENA
ProteomicsUnveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
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...
ORGANISM(S): Homo sapiens (Human) 
2025-08-04 | PXD058728 | Pride
Human Dia-pasef Bottom-up Immunopurification lc-ms Proteasome Neurodevelopmental disorders 
UnknownPSMC5 insufficiency and P320R mutation impair proteasome function.
Not available
S-EPMC11336065 | biostudies-literature
UnknownInvestigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Not available
S-EPMC12658096 | biostudies-literature
GenomicsUnveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
PRJNA1218815 | ENA
TranscriptomicsUnveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Neurodevelopmental disorders (NDDs) are conditions that affect the development of the central nervous system, often identified during early childhood. These disorders include intellectual disability, communication disorders, autism spectrum disorders, and attention-deficit hyperactivity disorder (AD...
ORGANISM(S): Homo sapiens 
2025-08-04 | GSE288665 | GEO
UnknownIdentification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
Not available
S-EPMC10436547 | biostudies-literature
UnknownSystematic discovery of protein interaction interfaces using AlphaFold and experimental validation.
Not available
S-EPMC10883280 | biostudies-literature
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