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UnknownClustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Not available
S-EPMC11023914 | biostudies-literature
UnknownSLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Not available
S-EPMC10689929 | biostudies-literature
UnknownNew insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Not available
S-EPMC7935717 | 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 
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 
UnknownGATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Not available
S-EPMC7920571 | biostudies-literature
UnknownGain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Not available
S-EPMC10336078 | biostudies-literature
UnknownInvestigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Not available
S-EPMC12658096 | biostudies-literature
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