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

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 ALDH5A1 gene that cause an enzymatic dysfunction of succinic semialdehyde dehydrogenase (SSA...

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Vydáno v:Int J Mol Sci
Hlavní autoři: Brennenstuhl, Heiko, Didiasova, Miroslava, Assmann, Birgit, Bertoldi, Mariarita, Molla, Gianluca, Jung-Klawitter, Sabine, Kuseyri Hübschmann, Oya, Schröter, Julian, Opladen, Thomas, Tikkanen, Ritva
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2020
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7696157/
https://ncbi.nlm.nih.gov/pubmed/33203024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21228578
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