Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of <i>ALDH5A1</i>

Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of <i>ALDH5A1</i>

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare, monogenic disorder affecting the degradation of the main inhibitory neurotransmitter γ-amino butyric acid (GABA). Pathogenic variants in the <i>ALDH5A1</i> gene that cause an enzymatic dysfunction of succinic semialdehyde...

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Bibliographic Details
Main Authors: Heiko Brennenstuhl, Miroslava Didiasova, Birgit Assmann, Mariarita Bertoldi, Gianluca Molla, Sabine Jung-Klawitter, Oya Kuseyri Hübschmann, Julian Schröter, Thomas Opladen, Ritva Tikkanen
Format: Article
Language:English
Published: MDPI AG 2020-11-01
Series:International Journal of Molecular Sciences
Subjects:
inherited metabolic disease
succinic semialdehyde dehydrogenase deficiency
γ-amino butyric acid
γ–hydroxybutyrate
mutational spectrum
Online Access:https://www.mdpi.com/1422-0067/21/22/8578

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https://www.mdpi.com/1422-0067/21/22/8578

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