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ProteomicsImpact of de novo variants in the PSMC3 proteasome AAA-ATPase subunit gene on the protein pattern of patient-derived primary T-cells in comparison to their wild-type counterparts.
To better understand the cellular consequences of loss-of-function mutations in the proteasome AAA-ATPase PSMC3, we performed a mass spectrometry-based comparative analysis of the T-cell proteome of subjects with PSMC3 mutations (p.Arg304Trp and p.Glu305Asp) to that of their wild-type counterparts.
ORGANISM(S): Homo sapiens (Human) 
2024-01-26 | PXD041182 | Pride
Protein homeostasis Proteasome Primary t-cells Psmc3 variants 
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 
UnknownMHC Hammer reveals genetic and non-genetic HLA disruption in cancer evolution.
Not available
S-EPMC11525181 | biostudies-literature
UnknownOutpatient intensive induction chemotherapy for acute myeloid leukemia and high-risk myelodysplastic syndrome.
Not available
S-EPMC7042997 | biostudies-literature
UnknownEmergence and intensification of dairying in the Caucasus and Eurasian steppes.
Not available
S-EPMC9177415 | biostudies-literature
UnknownSex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders.
Not available
S-EPMC8458480 | biostudies-literature
UnknownDisparities in HIV Viral Load Suppression by Race/Ethnicity Among Men Who Have Sex with Men in the HIV Outpatient Study.
Not available
S-EPMC7528768 | biostudies-literature
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 
UnknownSequential intensification of metformin treatment in type 2 diabetes with liraglutide followed by randomized addition of basal insulin prompted by A1C targets.
Not available
S-EPMC3379583 | biostudies-literature
UnknownCommunity-developed checklists for publishing images and image analyses.
Not available
S-EPMC9949169 | biostudies-literature
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