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UnknownStepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.
Not available
S-EPMC10011630 | 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 
UnknownSystematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies.
Not available
S-EPMC12424890 | biostudies-literature
UnknownDominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Not available
S-EPMC12165858 | biostudies-literature
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