Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case.
Sign Up to like & getrecommendations! Published in 2020 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2020.01.005
Abstract: Methylmalonate semialdehyde dehydrogenase deficiency (MMSDD; MIM 614105) is a rare autosomal recessive defect of valine and pyrimidine catabolism. Four prior MMSDD cases are published. We present a fifth case, along with functional and metabolomic analysis.… read more here.
Keywords: methylmalonate semialdehyde; fifth case; semialdehyde dehydrogenase; dehydrogenase deficiency ... See more keywords
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
Sign Up to like & getrecommendations! Published in 2020 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2020.04.004
Abstract: Deficiency of succinate semialdehyde dehydrogenase (SSADH; aldehyde dehydrogenase 5a1 (ALDH5A1), OMIM 271980, 610045), the second enzyme of GABA degradation, represents a rare autosomal-recessively inherited disorder which manifests metabolically as gamma-hydroxybutyric aciduria. The neurological phenotype includes… read more here.
Keywords: dehydrogenase; missense variants; semialdehyde dehydrogenase; aldh5a1 gene ... See more keywords
Methylmalonate‐semialdehyde dehydrogenase mediated metabolite homeostasis essentially regulate conidiation, polarized germination and pathogenesis in Magnaporthe oryzae
Sign Up to like & getrecommendations! Published in 2017 at "Environmental Microbiology"
DOI: 10.1111/1462-2920.13888
Abstract: Plants generate multitude of aldehydes under abiotic and biotic stress conditions. Ample demonstrations have shown that rice-derived aldehydes enhance the resistance of rice against the rice-blast fungus Magnaporthe oryzae. However, how the fungal pathogen nullifies the… read more here.
Keywords: dehydrogenase; momsdh; semialdehyde dehydrogenase; magnaporthe oryzae ... See more keywords
The tetrameric assembly of 2-aminomuconic 6-semialdehyde dehydrogenase is a functional requirement of cofactor NAD+ binding.
Sign Up to like & getrecommendations! Published in 2021 at "Environmental microbiology"
DOI: 10.1111/1462-2920.15840
Abstract: The bacterium Pseudomonas sp. AP-3 is able to use the environmental pollutant 2-aminophenol as its sole source of carbon, nitrogen, and energy. Eight genes (amnA, B, C, D, E, F, G, and H) encoding 2-aminophenol… read more here.
Keywords: semialdehyde; semialdehyde dehydrogenase; nad binding; aminomuconic semialdehyde ... See more keywords
The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency
Sign Up to like & getrecommendations! Published in 2023 at "Epilepsia"
DOI: 10.1111/epi.17592
Abstract: Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare inherited metabolic disorder caused by a defect of γ‐aminobutyrate (GABA) catabolism. Despite the resultant hyper‐GABAergic environment facilitated by the metabolic defect, individuals with this disorder have a… read more here.
Keywords: dehydrogenase deficiency; succinic semialdehyde; semialdehyde dehydrogenase; epilepsy ... See more keywords
In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells
Sign Up to like & getrecommendations! Published in 2017 at "PLoS ONE"
DOI: 10.1371/journal.pone.0186919
Abstract: We explored the utility of neural stem cells (NSCs) as an in vitro model for evaluating preclinical therapeutics in succinic semialdehyde dehydrogenase-deficient (SSADHD) mice. NSCs were obtained from aldh5a1+/+ and aldh5a1-/- mice (aldh5a1 = aldehyde… read more here.
Keywords: dehydrogenase; ssadhd; semialdehyde dehydrogenase; succinic semialdehyde ... See more keywords
Kinetic and structural insights into enzymatic mechanism of succinic semialdehyde dehydrogenase from Cyanothece sp. ATCC51142
Sign Up to like & getrecommendations! Published in 2020 at "PLoS ONE"
DOI: 10.1371/journal.pone.0239372
Abstract: As a ubiquitous enzyme, succinic semialdehyde dehydrogenase contributes significantly in many pathways including the tricarboxylic acid cycle and other metabolic processes such as detoxifying the accumulated succinic semialdehyde and surviving in nutrient-limiting conditions. Here the… read more here.
Keywords: succinic semialdehyde; semialdehyde; cce4228 protein; semialdehyde dehydrogenase ... See more keywords
A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog
Sign Up to like & getrecommendations! Published in 2020 at "Genes"
DOI: 10.3390/genes11091033
Abstract: Dogs provide highly valuable models of human disease due to the similarity in phenotype presentation and the ease of genetic analysis. Seven Saluki puppies were investigated for neurological abnormalities including seizures and altered behavior. Magnetic… read more here.
Keywords: saluki; semialdehyde dehydrogenase; succinic semialdehyde; brain ... See more keywords
Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23052606
Abstract: Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare genetic disorder caused by inefficient metabolic breakdown of the major inhibitory neurotransmitter, γ-aminobutyric acid (GABA). Pathologic brain accumulation of GABA and γ-hydroxybutyrate (GHB), a neuroactive by-product of… read more here.
Keywords: dehydrogenase deficiency; semialdehyde dehydrogenase; deficiency ssadhd; ssadhd ... See more keywords