Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene
Journal
medRxiv : the preprint server for health sciences
Titre abrégé: medRxiv
Pays: United States
ID NLM: 101767986
Informations de publication
Date de publication:
26 Jan 2024
26 Jan 2024
Historique:
medline:
31
1
2024
pubmed:
31
1
2024
entrez:
31
1
2024
Statut:
epublish
Résumé
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 in
Identifiants
pubmed: 38293138
doi: 10.1101/2024.01.13.24301174
pmc: PMC10827246
pii:
doi:
Types de publication
Preprint
Langues
eng