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

Volume / Issue Vol. 1, Issue 1
Published July 17, 2026
ISSN 2045-2322
Publisher Nature Portfolio

Journal Info

Scientific Reports

Nature Portfolio

ISSN: 2045-2322 Open Access Life Sciences

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