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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

https://doi.org/10.1371/journal.pone.0160447
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Inferred edges come from two machine sources: sweeps of open repository metadata (mostly SSRN and Zenodo), and a bulk OpenAlex citation snapshot. Every row below is labelled with the one it came from. Neither is a complete citation index — absence here is not evidence of absence.

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What this work says

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

inferredcites →https://doi.org/10.1002/humu.22513openalex-snapshot
Two Novel Mutations in theBCKDK(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients
inferredcites →https://doi.org/10.1016/0065-2571(90)90021-sopenalex-snapshot
Regulation of the branched-chain α-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease
inferredcites →https://doi.org/10.1016/j.bbrc.2003.11.007openalex-snapshot
Mechanisms responsible for regulation of branched-chain amino acid catabolism
inferredcites →https://doi.org/10.1016/j.exer.2004.09.014openalex-snapshot
A spontaneous mutation affects programmed cell death during development of the rat eye
inferredcites →https://doi.org/10.1016/j.expneurol.2007.03.011openalex-snapshot
Ciliary neurotrophic factor is not required for terminal sprouting and compensatory reinnervation of neuromuscular synapses: Re-evaluation of CNTF null mice
inferredcites →https://doi.org/10.1016/j.mcn.2007.08.016openalex-snapshot
βA3/A1-crystallin in astroglial cells regulates retinal vascular remodeling during development
inferredcites →https://doi.org/10.1016/j.neuint.2005.04.014openalex-snapshot
Response of brain amino acid metabolism to ketosis
inferredcites →https://doi.org/10.1016/j.preteyeres.2014.11.002openalex-snapshot
βA3/A1-crystallin: More than a lens protein
inferredcites →https://doi.org/10.1016/s0021-9258(18)42179-5openalex-snapshot
Branched-chain alpha-ketoacid dehydrogenase kinase. Molecular cloning, expression, and sequence similarity with histidine protein kinases.
inferredcites →https://doi.org/10.1038/nature09582openalex-snapshot
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
inferredcites →https://doi.org/10.1038/nature11015openalex-snapshot
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2
inferredcites →https://doi.org/10.1042/bj20060869openalex-snapshot
Impaired growth and neurological abnormalities in branched-chain α-keto acid dehydrogenase kinase-deficient mice
inferredcites →https://doi.org/10.1042/bj20061506openalex-snapshot
The case for regulating indispensable amino acid metabolism: the branched-chain α-keto acid dehydrogenase kinase-knockout mouse
inferredcites →https://doi.org/10.1093/bioinformatics/btv195openalex-snapshot
PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
inferredcites →https://doi.org/10.1093/jn/135.6.1527sopenalex-snapshot
Overview of the Molecular and Biochemical Basis of Branched-Chain Amino Acid Catabolism
inferredcites →https://doi.org/10.1093/jn/135.6.1531sopenalex-snapshot
Brain Amino Acid Requirements and Toxicity: The Example of Leucine
inferredcites →https://doi.org/10.1111/j.1432-1033.1984.tb08597.xopenalex-snapshot
Regulation of bovine kidney branched-chain 2-oxoacid dehydrogenase complex by reversible phosphorylation
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/10.1126/science.1247363openalex-snapshot
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
inferredcites →https://doi.org/10.1152/ajpregu.1996.271.1.r18openalex-snapshot
Indispensable amino acid deficiency and increased seizure susceptibility in rats
inferredcites →https://doi.org/10.1159/000444713openalex-snapshot
Epigenetic Regulations of GABAergic Neurotransmission: Relevance for Neurological Disorders and Epigenetic Therapy
inferredcites →https://doi.org/10.1354/vp.38-1-1openalex-snapshot
Evaluating Mutant Mice: Anatomic Pathology

What points at this work

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

inferred← citeshttps://doi.org/10.2139/ssrn.4585169openalex-extracted
Partial Suppression of Bcaa Catabolism as a Potential Therapy for Bckdk Deficiency
inferred← citeshttps://doi.org/10.2139/ssrn.4670032openalex-extracted
Partial Suppression of BCAA Catabolism as a Potential Therapy for BCKDK Deficiency
inferred← citeshttps://doi.org/10.1002/jimd.70242openalex-snapshot
Treating a Disorder Caused by an Overactive Enzyme: BCKD‐Kinase Deficiency
inferred← citeshttps://doi.org/10.1007/s00221-022-06386-8openalex-snapshot
Prenatal exposure to valproic acid alters Reelin, NGF expressing neuron architecture and impairs social interaction in their autistic-like phenotype male offspring
inferred← citeshttps://doi.org/10.1016/j.jbc.2023.102959openalex-snapshot
Structural studies identify angiotensin II receptor blocker-like compounds as branched-chain ketoacid dehydrogenase kinase inhibitors
inferred← citeshttps://doi.org/10.1016/j.jnutbio.2026.110275openalex-snapshot
A metabolic basis for motor deficits in mice lacking BCKDK
inferred← citeshttps://doi.org/10.1016/j.molmet.2022.101611openalex-snapshot
BDK inhibition acts as a catabolic switch to mimic fasting and improve metabolism in mice
inferred← citeshttps://doi.org/10.1016/j.neulet.2019.03.019openalex-snapshot
Association of three candidate genetic variants in ACMSD/TMEM163, GPNMB and BCKDK /STX1B with sporadic Parkinson’s disease in Han Chinese
inferred← citeshttps://doi.org/10.1016/j.preteyeres.2020.100886openalex-snapshot
Role of glia in optic nerve
inferred← citeshttps://doi.org/10.1016/j.repbio.2025.101094openalex-snapshot
Branched chain amino acid sufficiency is necessary for proper luteinizing hormone response and testosterone synthesis
inferred← citeshttps://doi.org/10.1016/j.ymgmr.2024.101091openalex-snapshot
Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency
inferred← citeshttps://doi.org/10.1186/s12929-020-00673-8openalex-snapshot
Rat models of human diseases and related phenotypes: a systematic inventory of the causative genes
inferred← citeshttps://doi.org/10.3389/fnagi.2021.646901openalex-snapshot
Genetic Variability in Molecular Pathways Implicated in Alzheimer's Disease: A Comprehensive Review
inferred← citeshttps://doi.org/10.3389/fnut.2022.932670openalex-snapshot
The Role of Branched-Chain Amino Acids and Branched-Chain α-Keto Acid Dehydrogenase Kinase in Metabolic Disorders
inferred← citeshttps://doi.org/10.3390/cells12202496openalex-snapshot
Mitophagy in Astrocytes Is Required for the Health of Optic Nerve
inferred← citeshttps://doi.org/10.3390/genes11111376openalex-snapshot
Experimental Models to Study Autism Spectrum Disorders: hiPSCs, Rodents and Zebrafish
inferred← citeshttps://doi.org/10.3390/genes13020233openalex-snapshot
A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism
inferred← citeshttps://doi.org/10.3390/molecules30010056openalex-snapshot
Primary Roles of Branched Chain Amino Acids (BCAAs) and Their Metabolism in Physiology and Metabolic Disorders
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