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Two Novel Mutations in theBCKDK(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

https://doi.org/10.1002/humu.22513
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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

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A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in thePPM1KGene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease
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Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects
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Organic Acids in Man
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Amino acid metabolism in patients with propionic acidaemia
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Mechanisms responsible for regulation of branched-chain amino acid catabolism
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Identification of a novel PP2C-type mitochondrial phosphatase
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Molecular Mechanism for Regulation of the Human Mitochondrial Branched-Chain α-Ketoacid Dehydrogenase Complex by Phosphorylation
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An integrated map of genetic variation from 1,092 human genomes
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A method and server for predicting damaging missense mutations
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Down-regulation of rat mitochondrial branched-chain 2-oxoacid dehydrogenase kinase gene expression by glucocorticoids
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Impaired growth and neurological abnormalities in branched-chain α-keto acid dehydrogenase kinase-deficient mice
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Astrocyte Leucine Metabolism: Significance of Branched‐Chain Amino Acid Transamination
inferredcites →https://doi.org/10.1073/pnas.201220098openalex-snapshot
Structure of rat BCKD kinase: Nucleotide-induced domain communication in a mitochondrial protein kinase
inferredcites →https://doi.org/10.1074/jbc.270.34.19861openalex-snapshot
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Structural and Biochemical Characterization of Human Mitochondrial Branched-chain α-Ketoacid Dehydrogenase Phosphatase
inferredcites →https://doi.org/10.1074/jbc.m112.351031openalex-snapshot
Tissue-specific and Nutrient Regulation of the Branched-chain α-Keto Acid Dehydrogenase Phosphatase, Protein Phosphatase 2Cm (PP2Cm)
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Cross-talk between Thiamin Diphosphate Binding and Phosphorylation Loop Conformation in Human Branched-chain α-Keto Acid Decarboxylase/Dehydrogenase
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Fast and accurate short read alignment with Burrows–Wheeler transform
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The Sequence Alignment/Map format and SAMtools
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Overview of the Molecular and Biochemical Basis of Branched-Chain Amino Acid Catabolism
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dbSNP: the NCBI database of genetic variation
inferredcites →https://doi.org/10.1093/nar/gks572openalex-snapshot
VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing
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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
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Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
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inferredcites →https://doi.org/10.1126/science.1224631openalex-snapshot
Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
inferredcites →https://doi.org/10.1172/jci38151openalex-snapshot
Protein phosphatase 2Cm is a critical regulator of branched-chain amino acid catabolism in mice and cultured cells
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What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

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Partial Suppression of Bcaa Catabolism as a Potential Therapy for Bckdk Deficiency
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Autism Spectrum Disorders: Genes and Genomic Mechanisms
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Nuclear‐Localized BCKDK Facilitates Homologous Recombination Repair to Support Breast Cancer Progression and Therapy Resistance
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The challenges in the interpretation of genetic variants detected by genomics techniques in patients with congenital anomalies
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Treating a Disorder Caused by an Overactive Enzyme: BCKD‐Kinase Deficiency
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Computational structural genomics and clinical evidence suggest BCKDK gain‐of‐function may cause a potentially asymptomatic maple syrup urine disease phenotype
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Child with Suspected Autism
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Maple Syrup Urine Disease
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Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment
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BCKDK of BCAA Catabolism Cross-talking With the MAPK Pathway Promotes Tumorigenesis of Colorectal Cancer
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Association of three candidate genetic variants in ACMSD/TMEM163, GPNMB and BCKDK /STX1B with sporadic Parkinson’s disease in Han Chinese
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Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency
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APN-mediated phosphorylation of BCKDK promotes hepatocellular carcinoma metastasis and proliferation via the ERK signaling pathway
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Branched-chain amino acids govern the high learning ability phenotype in Tokai high avoider (THA) rats
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CRISPR-RfxCas13d screening uncovers Bckdk as a post-translational regulator of maternal-to-zygotic transition in teleosts
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Exogenous branched chain amino acids improve cognitive impairment by regulating glutamatergic synapses in chronic cerebral hypoperfusion rats
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Molecular and biochemical investigations of inborn errors of metabolism-altered redox homeostasis in branched-chain amino acid disorders, organic acidurias, and homocystinuria
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Surviving and Adapting to Stress: Translational Control and the Integrated Stress Response
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Human iPSC-derived cerebral organoids model features of Leigh Syndrome and reveal abnormal corticogenesis
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BCKDK rs14235 A allele is associated with milder motor impairment and altered network topology in Parkinson’s disease
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Gamma‐aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders
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Human iPSC-derived cerebral organoids model features of Leigh syndrome and reveal abnormal corticogenesis
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Nuclear Localization of the Autism Candidate Gene Neurobeachin and Functional Interaction with the NOTCH1 Intracellular Domain Indicate a Role in Regulating Transcription
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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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Metabolomic biomarkers in autism: identification of complex dysregulations of cellular bioenergetics
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A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism
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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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Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment
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Primary Roles of Branched Chain Amino Acids (BCAAs) and Their Metabolism in Physiology and Metabolic Disorders
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BDK Deficiency in Cerebral Cortex Neurons Causes Neurological Abnormalities and Affects Endurance Capacity
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Comparative metabolomic analysis in horses and functional analysis of branched chain (alpha) keto acid dehydrogenase complex in equine myoblasts under exercise stress
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Additional file 1 of Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app
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BIER platform: analyzing and understanding genomic and biomedical data
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