Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of
inherited metabolic disease
mutational spectrum
succinic semialdehyde dehydrogenase deficiency
γ-amino butyric acid
γ–hydroxybutyrate
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
13 Nov 2020
13 Nov 2020
Historique:
received:
23
10
2020
revised:
09
11
2020
accepted:
11
11
2020
entrez:
18
11
2020
pubmed:
19
11
2020
medline:
4
3
2021
Statut:
epublish
Résumé
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
Identifiants
pubmed: 33203024
pii: ijms21228578
doi: 10.3390/ijms21228578
pmc: PMC7696157
pii:
doi:
Substances chimiques
ALDH5A1 protein, human
EC 1.2.1.24
Succinate-Semialdehyde Dehydrogenase
EC 1.2.1.24
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Dietmar Hopp Foundation
ID : -
Organisme : SSADH Defizit e.V.
ID : -
Organisme : Physician Scientist Program at Ruprecht Karls University Heidelberg, Faculty of Medicine
ID : -
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