Sort   by:  
 Page size 
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 
TranscriptomicsTranscriptional analysis of T cells derived from individuals with neurodevelopmental disorder carrying de novo heterozygous PSMC3 variants.
Gene expression profiling on T cells to investigate the effects of PSMC3 loss-of-function variants on the immune system using the Nanostring nCounter® Human AutoImmune Profiling Panel.
ORGANISM(S): Homo sapiens 
2024-03-30 | GSE228675 | GEO
ProteomicsDeep intronic homozygous variation in PSMC3, a subunit of the 19S proteasome regulatory complex, causes a syndromic neurosensory disorder combining deafness and cataract
The association of congenital deafness and early-onset cataracts inherited as a recessive trait is a rare combination described in only a few syndromes with very few genes identified to date. Whole-genome sequencing was performed on 3 patients from independent sibships from a large consanguineous fa...
ORGANISM(S): Homo sapiens (Human) 
2020-04-28 | PXD015836 | Pride
Proteasome Rare disease Human whole genome 
GenomicsTranscriptional analysis of T cells derived from individuals with neurodevelopmental disorder carrying de novo heterozygous PSMC3 variants.
Transcriptional analysis of T cells derived from individuals with neurodevelopmental disorder carrying de novo heterozygous PSMC3 variants.
PRJNA950994 | ENA
UnknownPSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Not available
S-EPMC10506367 | biostudies-literature
UnknownProteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
Not available
S-EPMC7338805 | biostudies-literature
UnknownNeuroimaging PheWAS and molecular phenotyping implicate PSMC3 in Alzheimer's disease.
Not available
S-EPMC12930104 | biostudies-literature
UnknownNeuroimaging PheWAS and molecular phenotyping implicate <i>PSMC3</i> in Alzheimer's Disease.
Not available
S-EPMC12458493 | biostudies-literature
UnknownPSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
Not available
S-SCDT-EMM-2019-11861 | biostudies-other
UnknownPSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
Not available
S-EPMC11267520 | biostudies-literature
Sort   by:  
 Page size