Deciphering the molecular impact of ALDH5A1 missense variants in succinic semialdehyde dehydrogenase deficiency through combined in vitro and in silico approaches
G
Giulia Spagnoli
S
Samuele Cesaro
C
Cristian Andres Carmona Carmona
D
Davide Tonduti
F
Fabio Bruschi
V
Valentina Belacchi
S
Stefania Paganini
I
Itay Tokatly-Latzer
P
Phillip L. Pearl
G
Giovanni Bisello
M
Miroslava Didiasova
R
Ritva Tikkanen
M
Mariarita Bertoldi
Article Details
Journal
Scientific Reports
Volume / Issue
Vol. 1, Issue 1
Published
July 17, 2026
ISSN
2045-2322
Publisher
Nature Portfolio
Authors (13)
G
Giulia Spagnoli
S
Samuele Cesaro
C
Cristian Andres Carmona Carmona
D
Davide Tonduti
F
Fabio Bruschi
V
Valentina Belacchi
S
Stefania Paganini
I
Itay Tokatly-Latzer
P
Phillip L. Pearl
G
Giovanni Bisello
M
Miroslava Didiasova
R
Ritva Tikkanen
M
Mariarita Bertoldi
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