Cover Image

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...

Full description

Saved in:
Bibliographic Details
Main Authors: Uçar, Sema Kalkan (Author) , Yıldırım, Cem (Author) , Opladen, Thomas (Author)
Format: Article (Journal)
Language:English
Published: September 2025
In: The FEBS journal

ISSN:1742-4658
DOI:10.1111/febs.70204
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1111/febs.70204
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/febs.70204
Get full text
Author Notes:Sema Kalkan Uçar, Cem Yıldırım and Thomas Opladen

MARC

LEADER 00000naa a2200000 c 4500
001 1945141913
003 DE-627
005 20251209132138.0
007 cr uuu---uuuuu
008 251209s2025 xx |||||o 00| ||eng c
024 7 |a 10.1111/febs.70204  |2 doi 
035 |a (DE-627)1945141913 
035 |a (DE-599)KXP1945141913 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Uçar, Sema Kalkan  |e VerfasserIn  |0 (DE-588)1383836744  |0 (DE-627)1945142367  |4 aut 
245 1 2 |a A CRISPR/Cas9 knockout model for AADC deficiency reveals structural loop3 instability as a key driver of catalytic failure  |c Sema Kalkan Uçar, Cem Yıldırım and Thomas Opladen 
246 1 |i Titel der focus issue  |a Structural insights into disease mechanisms 
264 1 |c September 2025 
300 |a 4 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a Online verfügbar: 24. Juli 2025 
500 |a Gesehen am 09.12.2025 
520 |a 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. 
650 4 |a AADC deficiency 
650 4 |a CRISPR-Cas9 
650 4 |a loop3 variants 
650 4 |a neuronal model 
650 4 |a precision medicine 
700 1 |a Yıldırım, Cem  |e VerfasserIn  |0 (DE-588)1383838054  |0 (DE-627)1945143215  |4 aut 
700 1 |a Opladen, Thomas  |d 1974-  |e VerfasserIn  |0 (DE-588)124489656  |0 (DE-627)642820481  |0 (DE-576)335321291  |4 aut 
773 0 8 |i Enthalten in  |a Vereinigung der Europäischen Biochemischen Gesellschaften  |t The FEBS journal  |d Oxford [u.a.] : Wiley-Blackwell, 2005  |g 292(2025), 18, Seite 4804-4807  |h Online-Ressource  |w (DE-627)476538459  |w (DE-600)2172518-4  |w (DE-576)115515283  |x 1742-4658  |7 nnas 
773 1 8 |g volume:292  |g year:2025  |g number:18  |g month  |g pages:4804-4807  |g extent:4  |a A CRISPR/Cas9 knockout model for AADC deficiency reveals structural loop3 instability as a key driver of catalytic failure 
856 4 0 |u https://doi.org/10.1111/febs.70204  |x Verlag  |x Resolving-System  |z lizenzpflichtig  |3 Volltext  |7 1 
856 4 0 |u https://onlinelibrary.wiley.com/doi/abs/10.1111/febs.70204  |x Verlag  |z lizenzpflichtig  |3 Volltext  |7 1 
951 |a AR 
992 |a 20251209 
993 |a Article 
994 |a 2025 
998 |g 124489656  |a Opladen, Thomas  |m 124489656:Opladen, Thomas  |d 910000  |d 910500  |d 50000  |e 910000PO124489656  |e 910500PO124489656  |e 50000PO124489656  |k 0/910000/  |k 1/910000/910500/  |k 0/50000/  |p 3  |y j 
999 |a KXP-PPN1945141913  |e 4824751683 
BIB |a Y 
SER |a journal 
JSO |a {"title":[{"title":"A CRISPR/Cas9 knockout model for AADC deficiency reveals structural loop3 instability as a key driver of catalytic failure","title_sort":"CRISPR/Cas9 knockout model for AADC deficiency reveals structural loop3 instability as a key driver of catalytic failure"}],"person":[{"family":"Uçar","given":"Sema Kalkan","roleDisplay":"VerfasserIn","role":"aut","display":"Uçar, Sema Kalkan"},{"roleDisplay":"VerfasserIn","role":"aut","given":"Cem","display":"Yıldırım, Cem","family":"Yıldırım"},{"display":"Opladen, Thomas","role":"aut","roleDisplay":"VerfasserIn","given":"Thomas","family":"Opladen"}],"language":["eng"],"name":{"displayForm":["Sema Kalkan Uçar, Cem Yıldırım and Thomas Opladen"]},"titleAlt":[{"title":"Structural insights into disease mechanisms"}],"id":{"eki":["1945141913"],"doi":["10.1111/febs.70204"]},"physDesc":[{"extent":"4 S."}],"origin":[{"dateIssuedKey":"2025","dateIssuedDisp":"September 2025"}],"relHost":[{"corporate":[{"display":"Vereinigung der Europäischen Biochemischen Gesellschaften","roleDisplay":"VerfasserIn","role":"aut"}],"id":{"issn":["1742-4658"],"doi":["10.1111/(ISSN)1742-4658"],"zdb":["2172518-4"],"eki":["476538459"]},"type":{"media":"Online-Ressource","bibl":"periodical"},"pubHistory":["272.2005 -"],"part":{"pages":"4804-4807","extent":"4","year":"2025","text":"292(2025), 18, Seite 4804-4807","issue":"18","volume":"292"},"recId":"476538459","note":["Gesehen am 24.03.25"],"disp":"Vereinigung der Europäischen Biochemischen GesellschaftenThe FEBS journal","language":["eng"],"physDesc":[{"extent":"Online-Ressource"}],"origin":[{"publisher":"Wiley-Blackwell ; Blackwell","dateIssuedDisp":"2005-","publisherPlace":"Oxford [u.a.] ; Oxford [u.a.]","dateIssuedKey":"2005"}],"name":{"displayForm":["Federation of European Biochemical Societies"]},"title":[{"title_sort":"FEBS journal","title":"The FEBS journal"}]}],"note":["Online verfügbar: 24. Juli 2025","Gesehen am 09.12.2025"],"recId":"1945141913","type":{"bibl":"article-journal","media":"Online-Ressource"}} 
SRT |a UCARSEMAKACRISPRCAS92025 

Similar Items