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A CRISPR/Cas9 knockout model for AADC deficiency reveals structural loop3 instability as a key driver of catalytic failure

The CRISPR-Cas9 dopa decarboxylase (DDC) gene knockout SH-SY5Y model for aromatic L-amino acid decarboxylase (AADC) deficiency provides a valuable neuronal platform for functional and structural investigation of pathogenic variants. In their study, Bertoldi et al. successfully recapitulate the bioch...

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Hauptverfasser: Uçar, Sema Kalkan (VerfasserIn) , Yıldırım, Cem (VerfasserIn) , Opladen, Thomas (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: September 2025
In: The FEBS journal

ISSN:1742-4658
DOI:10.1111/febs.70204
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1111/febs.70204
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/febs.70204
Volltext
Verfasserangaben:Sema Kalkan Uçar, Cem Yıldırım and Thomas Opladen
Beschreibung
Zusammenfassung:The CRISPR-Cas9 dopa decarboxylase (DDC) gene knockout SH-SY5Y model for aromatic L-amino acid decarboxylase (AADC) deficiency provides a valuable neuronal platform for functional and structural investigation of pathogenic variants. In their study, Bertoldi et al. successfully recapitulate the biochemical and metabolic hallmarks of AADC deficiency using the AADC catalytic variants R347Q and L353P. Their combined structural and cellular approach identifies loop3 dynamics as a critical determinant of enzymatic dysfunction. This model may pave the way for the development of precision therapies.
Beschreibung:Online verfügbar: 24. Juli 2025
Gesehen am 09.12.2025
Beschreibung:Online Resource
ISSN:1742-4658
DOI:10.1111/febs.70204

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