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A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency

https://doi.org/10.1093/hmg/ddaa202
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Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/(sici)1098-1136(199604)16:4<351::aid-glia7>3.0.co;2-2openalex-snapshot
Selective ablation of astrocytes by intracerebral injections of ?-aminoadipate
inferredcites →https://doi.org/10.1002/ana.21568openalex-snapshot
Folinic acid–responsive seizures are identical to pyridoxine‐dependent epilepsy
inferredcites →https://doi.org/10.1002/ana.24027openalex-snapshot
Glial localization of antiquitin: Implications for pyridoxine‐dependent epilepsy
inferredcites →https://doi.org/10.1002/jimd.12045openalex-snapshot
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
inferredcites →https://doi.org/10.1002/jimd.12059openalex-snapshot
Identification of a novel biomarker for pyridoxine‐dependent epilepsy: Implications for newborn screening
inferredcites →https://doi.org/10.1002/jimd.12076openalex-snapshot
New insights into human lysine degradation pathways with relevance to pyridoxine‐dependent epilepsy due to antiquitin deficiency
inferredcites →https://doi.org/10.1007/8904_2014_296openalex-snapshot
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations
inferredcites →https://doi.org/10.1007/s00726-013-1590-1openalex-snapshot
Lysine metabolism in mammalian brain: an update on the importance of recent discoveries
inferredcites →https://doi.org/10.1007/s10545-006-0508-4openalex-snapshot
Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy
inferredcites →https://doi.org/10.1007/s10545-011-9443-0openalex-snapshot
The measurement of urinary Δ1‐piperideine‐6‐carboxylate, the alter ego of α‐aminoadipic semialdehyde, in Antiquitin deficiency
inferredcites →https://doi.org/10.1007/s10545-013-9673-4openalex-snapshot
Human pyrroline‐5‐carboxylate reductase (PYCR1) acts on Δ1‐piperideine‐6‐carboxylate generating L‐pipecolic acid
inferredcites →https://doi.org/10.1007/s10545-014-9762-zopenalex-snapshot
Understanding cerebral L‐lysine metabolism: the role of L‐pipecolate metabolism in Gcdh‐deficient mice as a model for glutaric aciduria type I
inferredcites →https://doi.org/10.1007/s10545-016-9935-zopenalex-snapshot
Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass‐spectrometry
inferredcites →https://doi.org/10.1007/s10545-016-9955-8openalex-snapshot
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies
inferredcites →https://doi.org/10.1007/s10545-017-0061-3openalex-snapshot
Vitamin B6 is essential for serine de novo biosynthesis
inferredcites →https://doi.org/10.1016/0006-8993(90)90243-5openalex-snapshot
Genetic correlations among inbred strain sensitivities to convulsions induced by 9 convulsant drugs
inferredcites →https://doi.org/10.1016/0165-3806(85)90169-5openalex-snapshot
Pipecolic acid levels and transport in developing mouse brain
inferredcites →https://doi.org/10.1016/0167-4838(93)90108-4openalex-snapshot
l-Pipecolic acid oxidation in rat: subcellular localization and developmental study
inferredcites →https://doi.org/10.1016/j.aca.2011.11.018openalex-snapshot
Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography–tandem mass spectrometry
inferredcites →https://doi.org/10.1016/j.bbadis.2016.09.006openalex-snapshot
Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE)
inferredcites →https://doi.org/10.1016/j.bbadis.2017.05.018openalex-snapshot
Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism
inferredcites →https://doi.org/10.1016/j.cbi.2011.02.016openalex-snapshot
Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity
inferredcites →https://doi.org/10.1016/j.ejpn.2010.03.011openalex-snapshot
Novel mutations in pyridoxine-dependent epilepsy
inferredcites →https://doi.org/10.1016/j.ejpn.2011.05.011openalex-snapshot
Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation
inferredcites →https://doi.org/10.1016/j.ejpn.2014.07.001openalex-snapshot
Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: l-arginine supplementation alternative to lysine-restricted diet
inferredcites →https://doi.org/10.1016/j.febslet.2009.11.055openalex-snapshot
Metabolism of lysine in α‐aminoadipic semialdehyde dehydrogenase‐deficient fibroblasts: Evidence for an alternative pathway of pipecolic acid formation
inferredcites →https://doi.org/10.1016/j.jaapos.2013.01.006openalex-snapshot
Congenital cataract in a child with pyridoxine-dependent epilepsy
inferredcites →https://doi.org/10.1016/j.nbd.2011.10.016openalex-snapshot
Synaptic dysfunction in progranulin-deficient mice
inferredcites →https://doi.org/10.1016/j.neurobiolaging.2013.04.019openalex-snapshot
Sensitivity to neurotoxic stress is not increased in progranulin-deficient mice
inferredcites →https://doi.org/10.1016/j.pediatrneurol.2015.12.013openalex-snapshot
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum
inferredcites →https://doi.org/10.1016/j.pediatrneurol.2016.03.008openalex-snapshot
A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1
inferredcites →https://doi.org/10.1016/j.ymgme.2011.05.014openalex-snapshot
Pyridoxine dependent epilepsy and antiquitin deficiency
inferredcites →https://doi.org/10.1016/j.ymgme.2015.05.011openalex-snapshot
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome
inferredcites →https://doi.org/10.1016/j.ymgmr.2014.02.001openalex-snapshot
Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect
inferredcites →https://doi.org/10.1016/s0003-2697(02)00537-7openalex-snapshot
Simultaneous determination of methionine sulfoxide and methionine in blood plasma using gas chromatography-mass spectrometry
inferredcites →https://doi.org/10.1016/s0006-8993(02)02565-9openalex-snapshot
Mouse strain variation in maximal electroshock seizure threshold
inferredcites →https://doi.org/10.1023/a:1006906505745openalex-snapshot
Identification of L-amino acid/L-lysine α-amino oxidase in mouse brain
inferredcites →https://doi.org/10.1023/a:1006947322342openalex-snapshot
The glio-toxic mechanism of α-aminoadipic acid on cultured astrocytes
inferredcites →https://doi.org/10.1038/nm1366openalex-snapshot
Mutations in antiquitin in individuals with pyridoxine-dependent seizures
inferredcites →https://doi.org/10.1038/nmeth.1342openalex-snapshot
Agouti C57BL/6N embryonic stem cells for mouse genetic resources
inferredcites →https://doi.org/10.1038/srep38299openalex-snapshot
Methionine sulfoxides in serum proteins as potential clinical biomarkers of oxidative stress
inferredcites →https://doi.org/10.1083/jcb.201807204openalex-snapshot
The lysine catabolite saccharopine impairs development by disrupting mitochondrial homeostasis
inferredcites →https://doi.org/10.1093/brain/awq143openalex-snapshot
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
inferredcites →https://doi.org/10.1093/brain/awq269openalex-snapshot
Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I
inferredcites →https://doi.org/10.1093/hmg/ddz009openalex-snapshot
Mutant huntingtin expression in microglia is neither required nor sufficient to cause the Huntington’s disease-like phenotype in BACHD mice
inferredcites →https://doi.org/10.1111/epi.12083openalex-snapshot
Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option
inferredcites →https://doi.org/10.1111/j.1528-1157.1988.tb03736.xopenalex-snapshot
Seizure Susceptibility in DBA and C57 Mice: The Effects of Various Convulsants
inferredcites →https://doi.org/10.1111/j.1528-1157.1995.tb00999.xopenalex-snapshot
Differential Susceptibility to Seizures Induced by Systemic Kainic Acid Treatment in Mature DBA/2J and C57BLl6J Mice
inferredcites →https://doi.org/10.1136/fn.81.2.f125openalex-snapshot
Pyridoxine dependent epilepsy: a suggestive electroclinical pattern
inferredcites →https://doi.org/10.1161/01.hyp.11.4.387openalex-snapshot
Sympathetic stimulation and hypertension in the pyridoxine-deficient adult rat.
inferredcites →https://doi.org/10.1371/journal.pone.0143833openalex-snapshot
Large Neutral Amino Acid Supplementation Exerts Its Effect through Three Synergistic Mechanisms: Proof of Principle in Phenylketonuria Mice
inferredcites →https://doi.org/10.1523/jneurosci.04-10-02650.1984openalex-snapshot
The glutamate analogue alpha-aminoadipic acid is taken up by astrocytes before exerting its gliotoxic effect in vitro
inferredcites →https://doi.org/10.1534/genetics.117.300137openalex-snapshot
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency
inferredcites →https://doi.org/10.1538/expanim1978.42.1_1openalex-snapshot
Studies on Coprophagy in Experimental Animals
inferredcites →https://doi.org/10.1684/epd.2009.0280openalex-snapshot
Electroencephalographic changes in pyridoxine‐dependant epilepsy: new observations
inferredcites →https://doi.org/10.17226/4758openalex-snapshot
Nutrient Requirements of Laboratory Animals,

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/cns3.20016openalex-snapshot
Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research
inferred← citeshttps://doi.org/10.1002/jimd.12569openalex-snapshot
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy
inferred← citeshttps://doi.org/10.1002/jimd.12655openalex-snapshot
On pathways and blind alleys—The importance of biomarkers in vitamin B6 ‐dependent epilepsies
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Mouse models for inherited monoamine neurotransmitter disorders
inferred← citeshttps://doi.org/10.1002/jimd.12783openalex-snapshot
Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency
inferred← citeshttps://doi.org/10.1002/jnr.70148openalex-snapshot
Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?
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Metabolomics and Brain & Neurological Diseases
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Aldehyde Dehydrogenases
inferred← citeshttps://doi.org/10.1016/b978-0-443-19176-3.00062-5openalex-snapshot
Disorders of pyridoxine metabolism
inferred← citeshttps://doi.org/10.1016/j.celrep.2024.115069openalex-snapshot
Restricting lysine normalizes toxic catabolites associated with ALDH7A1 deficiency in cells and mice
inferred← citeshttps://doi.org/10.1016/j.ejpn.2021.06.001openalex-snapshot
Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study
inferred← citeshttps://doi.org/10.1016/j.eplepsyres.2025.107656openalex-snapshot
Exploring metabolic biomarkers and pathways in pharmacoresistant epilepsy: A systematic review
inferred← citeshttps://doi.org/10.1016/j.nbd.2026.107315openalex-snapshot
The neuropathological mechanisms underlying the inborn errors of lysine metabolism
inferred← citeshttps://doi.org/10.1016/j.omtn.2025.102728openalex-snapshot
Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy
inferred← citeshttps://doi.org/10.1016/j.seizure.2021.07.014openalex-snapshot
Is oxidative stress an overlooked player in pyridoxine-dependent epilepsy? A focused review
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/10.1016/j.ymgmr.2025.101260openalex-snapshot
Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect
inferred← citeshttps://doi.org/10.1016/j.ymthe.2025.02.027openalex-snapshot
Dysregulation of astrocyte-derived matrix gla protein impairs dendritic spine development in pyridoxine-dependent epilepsy
inferred← citeshttps://doi.org/10.1016/j.ymthe.2025.03.009openalex-snapshot
Vitamin K as an add-on therapy in pyridoxine-dependent epilepsy
inferred← citeshttps://doi.org/10.1093/braincomms/fcaf397openalex-snapshot
New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse
inferred← citeshttps://doi.org/10.1126/sciadv.adl2764openalex-snapshot
Disrupted de novo pyrimidine biosynthesis impairs adult hippocampal neurogenesis and cognition in pyridoxine-dependent epilepsy
inferred← citeshttps://doi.org/10.1126/sciadv.aef6777openalex-snapshot
Astrocyte redox imbalance underlies prelimbic neuronal hypoactivity and maladaptive affective behaviors in epilepsy
inferred← citeshttps://doi.org/10.1136/bcr-2026-272010openalex-snapshot
Adolescent diagnosis of pyridoxine-dependent epilepsy
inferred← citeshttps://doi.org/10.1172/jci148272openalex-snapshot
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy
inferred← citeshttps://doi.org/10.1523/jneurosci.1459-21.2022openalex-snapshot
The Metabolite Saccharopine Impairs Neuronal Development by Inhibiting the Neurotrophic Function of Glucose-6-Phosphate Isomerase
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inferred← citeshttps://doi.org/10.3389/fneur.2025.1609600openalex-snapshot
Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study
inferred← citeshttps://doi.org/10.3389/fnmol.2025.1695490openalex-snapshot
Lysine α-ketoglutarate reductase as a therapeutic target for saccharopine pathway related diseases
inferred← citeshttps://doi.org/10.3390/biom16040486openalex-snapshot
Classical and Emerging Biomarkers in Pyridoxine-Dependent Epilepsy (PDE-ALDH7A1): Implications for Early Diagnosis and Therapeutic Development
inferred← citeshttps://doi.org/10.3390/cells15161492openalex-snapshot
Metabolic Outputs of the Gut Microbiome: Implications for Epilepsy
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Clocking Epilepsies: A Chronomodulated Strategy-Based Therapy for Rhythmic Seizures
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