Article

Strengthening the Role of PSMC5 as Potential Gene Associated with Neurodevelopmental Disorder

2025-06-11

Abstract excerpt

The 26S proteasome is a large, ATP-dependent proteolytic complex responsible for degrading ubiquitinated proteins in eukaryotic cells. It plays a crucial role in maintaining cellular protein homeostasis by selectively eliminating misfolded, damaged, or regulatory proteins marked for degradation. In this study, whole exome sequencing (WES) was performed on an individual presenting with developmental delay and mild...

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Literature Corpus work: fff88f91-9d83-5188-bbae-9ee076ac8beb
DOI: 10.20944/preprints202506.0849.v1

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