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Partial Suppression of Bcaa Catabolism as a Potential Therapy for Bckdk Deficiency

https://doi.org/10.2139/ssrn.4585169
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Outgoing claims: the papers this work cites, builds on, or argues with.

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Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism
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The BCKDH Kinase and Phosphatase Integrate BCAA and Lipid Metabolism via Regulation of ATP-Citrate Lyase
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BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
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A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency
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Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
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Branched Chain Amino Acids
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A Spontaneous Missense Mutation in Branched Chain Keto Acid Dehydrogenase Kinase in the Rat Affects Both the Central and Peripheral Nervous Systems
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Newborn Screening for Maple Syrup Urine Disease (Branched-Chain Ketoaciduria)
inferredcites →https://doi.org/10.3109/19390211.2015.1112866openalex-extracted
Branched-Chain Amino Acid Supplementation in Combination with Voluntary Running Improves Body Composition in Female C57BL/6 Mice
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Functional Metabolic Mapping Reveals Highly Active Branched-Chain Amino Acid Metabolism in Human Astrocytes, Which Is Impaired in iPSC-Derived Astrocytes in Alzheimer's Disease
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Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders
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Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy
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