Regular ArticleMethylmalonic Semialdehyde Dehydrogenase Deficiency: Psychomotor Delay and Methylmalonic Aciduria without Metabolic Decompensation☆
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Cited by (31)
The role of branched chain amino acids metabolic disorders in tumorigenesis and progression
2022, Biomedicine and PharmacotherapyCitation Excerpt :BCKAs are then irreversibly decarboxylated and dehydrogenated by the branched-chain α-ketoacid dehydrogenase (BCKDH) complex [127], which is positively regulated by PPM1K (Protein Phosphatase Mg2+/Mn2+-Dependent 1 K, also called PP2Cm) dephosphorylation and negatively regulated by BCKDH kinase (BCKDK) phosphorylation [122]. After catalyzed by BCKDH, BCKAs are further oxidized into different substrates for biosynthesis or energy by a wide array of enzymes, such as the valine’s dehydrogenase isobutyryl-CoA dehydrogenase (ACAD8) [19,134,135]. The three BCKAs could be further broken down into acetyl and/or succinyl-coenzyme A, which would go into the tricarboxylic acid (TCA) cycle and contribute to energy production [9,123,165,168,185].
Aldehyde Dehydrogenases
2018, Comprehensive Toxicology: Third EditionGaussian and linear deconvolution of LC-MS/MS chromatograms of the eight aminobutyric acid isomers
2017, Analytical BiochemistryCitation Excerpt :BAIBA is also a metabolic biomarker for breast cancer [35], liver and kidney malignancies [20,36], acute and chronic myeloid leukemia [37], and hematological diseases [38]. Several early studies on the identification and characterization of BAIBA used GC-based stereospecific analyses to discriminate between d- and l-BAIBA [22–24,39–44]. However, recent studies rarely use stereospecific detection methods, or pure BAIBA enantiomers.
Methylmalonate-semialdehyde dehydrogenase from Bacillus subtilis: Substrate specificity and coenzyme A binding
2011, Journal of Biological ChemistryCitation Excerpt :Over the last 2 decades, a possible correlation of organic acidemia with MSDH deficiency has been explored (21, 22). For example, Roe et al. (23) proposed that a psychomotor delay associated with methylmalonyl aciduria is a direct consequence of a lack of MSDH activity. More recently, it was suggested that MSDH may play a role in root development and leaf sheath elongation in rice (24).
Aldehyde Dehydrogenases
2010, Comprehensive Toxicology, Second EditionRole of aldehyde dehydrogenases in endogenous and xenobiotic metabolism
2000, Chemico-Biological Interactions
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Scriver, C, RBeaudet, A, LSly, W, ASValle, D