Research graph
References from Dysregulated metabolism in neurodevelopmental disorders: From glycolytic gene variants to metabolic reprogramming and therapeutic perspectives. Local targets link to admitted publications; unresolved targets remain external evidence.
Energy metabolism in childhood neurodevelopmental disorders
10.1016/j.ebiom.2021.103474 · 2021 · External reference
Nasal administration of mitochondria reverses chemotherapy-induced cognitive deficits
10.7150/thno.53474 · 2021 · External reference
A SLC16A1 mutation in an infant with ketoacidosis and neuroimaging assessment: expanding the clinical Spectrum of MCT1 deficiency
10.3389/fped.2019.00299 · 2019 · External reference
Cross-talk between energy and redox metabolism in astrocyte-neuron functional cooperation
10.1042/ebc20220075 · 2023 · External reference
Oligodendrocytes: development, physiology and glucose metabolism
10.1007/978-3-319-45096-4_10 · 2016 · External reference
Astrocytic GLUT1 reduction paradoxically improves central and peripheral glucose homeostasis
10.1126/sciadv.adp1115 · 2024 · External reference
Oligodendroglial fatty acid metabolism as a central nervous system energy reserve
10.1038/s41593-024-01749-6 · 2024 · External reference
A mild clinical phenotype with myopathic and hemolytic forms of phosphoglycerate kinase deficiency (PGK Osaka): a case report and literature review
10.2169/internalmedicine.9221-21 · 2022 · External reference
Astrocytic glycogen metabolism in the healthy and diseased brain
10.1074/jbc.r117.803239 · 2018 · External reference
PGK deficiency
10.1111/j.1365-2141.2006.06351.x · 2007 · External reference
Cell type-specific roles of APOE4 in Alzheimer disease
10.1038/s41583-023-00776-9 · 2024 · External reference
Rare cause of ketolysis: monocarboxylate transporter 1 deficiency
10.24953/turkjped.2021.4915 · 2022 · External reference
The expanding phenotype of GLUT1-deficiency syndrome
10.1016/j.braindev.2009.02.008 · 2009 · External reference
Energy metabolism during exercise in patients with beta-enolase deficiency (GSDXIII)
2021 · External reference
Targeting PFKFB3 alleviates cerebral ischemia-reperfusion injury in mice
10.1038/s41598-019-48196-z · 2019 · External reference
Metabolic reprogramming of astrocytes in pathological conditions: implications for neurodegenerative diseases
10.3390/ijms25168922 · 2024 · External reference
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes
10.1007/s00415-019-09280-6 · 2019 · External reference
Case report: comprehensive exploration of a novel PFKM mutation in glycogen storage disease type VII
10.3389/fgene.2024.1422908 · 2024 · External reference
mTOR- and HIF-1alpha-mediated aerobic glycolysis as metabolic basis for trained immunity
10.1126/science.1250684 · 2014 · External reference
N-acetylcysteine protects memory decline induced by streptozotocin in mice
10.1016/j.cbi.2016.04.026 · 2016 · External reference
Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
10.1056/nejm199109053251006 · 1991 · External reference
Brain glucose metabolism: integration of energetics with function
10.1152/physrev.00062.2017 · 2019 · External reference
Metabolic lactate production coordinates vasculature development and progenitor behavior in the developing mouse neocortex
10.1038/s41593-022-01093-7 · 2022 · External reference
HK2: gatekeeping microglial activity by tuning glucose metabolism and mitochondrial functions
10.1016/j.molcel.2023.02.022 · 2023 · External reference
Clinical and molecular spectrum of glucose-6-phosphate isomerase deficiency. Report of 12 new cases
10.3389/fphys.2019.00467 · 2019 · External reference
Mitochondrial dynamics and transport in Alzheimer’s disease
10.1016/j.mcn.2019.06.009 · 2019 · External reference
Stiripentol: A review in Dravet syndrome
10.1007/s40265-019-01204-y · 2019 · External reference
mTOR/AMPK signaling in the brain: cell metabolism, proteostasis and survival
10.1016/j.cotox.2018.05.002 · 2018 · External reference
The SLC16 gene family - structure, role and regulation in health and disease
10.1016/j.mam.2012.05.003 · 2013 · External reference
Child neurology: triosephosphate isomerase deficiency
10.1212/wnl.0000000000010745 · 2020 · External reference
Transfer of mitochondria from astrocytes to neurons after stroke
10.1038/nature18928 · 2016 · External reference
The bioenergetic and antioxidant status of neurons is controlled by continuous degradation of a key glycolytic enzyme by APC/C-Cdh1
10.1038/ncb1881 · 2009 · External reference
NAD(+) supplementation normalizes key Alzheimer's features and DNA damage responses in a new AD mouse model with introduced DNA repair deficiency
10.1073/pnas.1718819115 · 2018 · External reference
Dual roles of hexokinase 2 in shaping microglial function by gating glycolytic flux and mitochondrial activity
10.1038/s42255-022-00707-5 · 2022 · External reference
Glycometabolic reprogramming of microglia in neurodegenerative diseases: insights from neuroinflammation
2024 · External reference
Weak neuronal glycolysis sustains cognition and organismal fitness
10.1038/s42255-024-01049-0 · 2024 · External reference
Neuronal glycolysis meets mitophagy to govern organismal wellbeing
10.1016/j.tem.2025.05.005 · 2026 · External reference
Glucose-6-phosphate isomerase deficiency
10.1053/beha.1999.0059 · 2000 · External reference
Human d-lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency
2021 · External reference
Human iPSC-derived neural progenitor cells secreting GDNF provide protection in rodent models of ALS and retinal degeneration
10.1016/j.stemcr.2023.03.016 · 2023 · External reference
Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review
10.1001/jamaneurol.2013.3090 · 2013 · External reference
Ultrastructural localization of GLUT 1 and GLUT 3 glucose transporters in rat brain
10.1002/(sici)1097-4547(19970901)49:5<617::aid-jnr12>3.0.co;2-s · 1997 · External reference
Microglial hexokinase 2 deficiency increases ATP generation through lipid metabolism leading to beta-amyloid clearance
10.1038/s42255-022-00643-4 · 2022 · External reference
Oligodendrocyte-derived transcellular signaling regulates axonal energy metabolism
10.1016/j.conb.2023.102722 · 2023 · External reference
Neurons require glucose uptake and glycolysis in vivo
2023 · External reference
A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro
10.1186/s13052-025-01917-9 · 2025 · External reference
Role of microglia-neuron interactions in diabetic encephalopathy
10.1016/j.arr.2017.12.005 · 2018 · External reference
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis
10.1038/s41467-022-28191-1 · 2022 · External reference
The FAcilitates chromatin transcription complex regulates the ratio of glycolysis to oxidative phosphorylation in neural stem cells
10.1093/jmcb/mjae017 · 2024 · External reference
Ketogenic diet as a nutritional metabolic intervention for obsessive-compulsive disorder: a narrative review
10.3390/nu17010031 · 2024 · External reference
A breakdown of metabolic reprogramming in microglia induced by CKLF1 exacerbates immune tolerance in ischemic stroke
10.1186/s12974-023-02779-w · 2023 · External reference
Gasdermin D mediated mitochondrial metabolism orchestrate neurogenesis through LDHA during embryonic development
2024 · External reference
AI-driven framework to map the brain metabolome in three dimensions
10.1038/s42255-025-01242-9 · 2025 · External reference
Fructose 1,6-bisphosphate is anticonvulsant and improves oxidative glucose metabolism within the hippocampus and liver in the chronic pilocarpine mouse epilepsy model
10.1016/j.yebeh.2021.108223 · 2021 · External reference
The mitochondria-targeted antioxidant MitoQ prevents loss of spatial memory retention and early neuropathology in a transgenic mouse model of Alzheimer’s disease
10.1523/jneurosci.0552-11.2011 · 2011 · External reference
Restoring hippocampal glucose metabolism rescues cognition across Alzheimer's disease pathologies
10.1126/science.abm6131 · 2024 · External reference
Identification of human D lactate dehydrogenase deficiency
10.1038/s41467-019-09458-6 · 2019 · External reference
Loss of microglial MCT4 leads to defective synaptic pruning and anxiety-like behavior in mice
10.1038/s41467-023-41502-4 · 2023 · External reference
Oligodendroglia: metabolic supporters of axons
10.1016/j.tcb.2013.07.007 · 2013 · External reference
Phosphofructokinase deficiency; past, present and future
10.2174/1566524024605734 · 2002 · External reference
Case report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency
10.3389/fped.2024.1494604 · 2024 · External reference
The neuroimaging findings of monocarboxylate transporter 1 deficiency
10.1007/s00234-020-02435-7 · 2020 · External reference
Human pluripotent stem cell (hPSC)-derived models for autism spectrum disorder drug discovery
10.1080/17460441.2024.2416484 · 2025 · External reference
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment
10.1038/s41431-019-0366-9 · 2019 · External reference
Aldolase A deficiency: report of new cases and literature review
2021 · External reference
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients
10.1016/j.ymgme.2012.03.017 · 2012 · External reference
Glutamate uptake into astrocytes stimulates aerobic glycolysis: a mechanism coupling neuronal activity to glucose utilization
10.1073/pnas.91.22.10625 · 1994 · External reference
10.1016/j.cell.2023.11.011
10.1016/j.cell.2023.11.011 · External reference
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants
10.1016/j.ejmg.2023.104696 · 2023 · External reference
Mesenchymal stem cell-derived extracellular vesicles alleviate autism by regulating microglial glucose metabolism reprogramming and neuroinflammation through PD-1/PD-L1 interaction
10.1186/s12951-025-03250-z · 2025 · External reference
Neuronal immunoproteasome and PFKFB3-forced glycolysis: key players in multiple sclerosis
10.1038/s41392-025-02372-y · 2025 · External reference
Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo
10.1016/j.bbadis.2019.05.002 · 2019 · External reference
Type I interferons and microbial metabolites of tryptophan modulate astrocyte activity and central nervous system inflammation via the aryl hydrocarbon receptor
10.1038/nm.4106 · 2016 · External reference
LRRK2 mutations cause mitochondrial DNA damage in iPSC-derived neural cells from Parkinson’s disease patients: reversal by gene correction
10.1016/j.nbd.2013.10.013 · 2014 · External reference
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier
10.1038/ng0298-188 · 1998 · External reference
Triosephosphate isomerase deficiency: E105D mutation in unrelated patients and review of the literature
10.1159/000528192 · 2023 · External reference
Mitochondrial bioenergetic is impaired in monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature
10.1186/s13023-022-02389-4 · 2022 · External reference
Brain fuel utilization in the developing brain
10.1159/000508054 · 2019 · External reference
Adenosine signalling to astrocytes coordinates brain metabolism and function
10.1038/s41586-024-07611-w · 2024 · External reference
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene
10.1016/j.nmd.2009.08.007 · 2009 · External reference
Glucose transporter 1 critically controls microglial activation through facilitating glycolysis
10.1186/s13024-019-0305-9 · 2019 · External reference
Axin2 coupled excessive Wnt-glycolysis signaling mediates social defect in autism spectrum disorders
10.15252/emmm.202217101 · 2023 · External reference
BACH1 changes microglial metabolism and affects astrogenesis during mouse brain development
10.1016/j.devcel.2023.11.018 · 2024 · External reference
Targeting the IDH1 (R132H) mutation in gliomas by CRISPR/Cas precision base editing
2024 · External reference
Aerobic glycolysis is the predominant means of glucose metabolism in neuronal somata, which protects against oxidative damage
10.1038/s41593-023-01476-4 · 2023 · External reference
Mesenchymal stem cells and purinergic Signaling in autism Spectrum disorder: bridging the gap between cell-based strategies and neuro-immune modulation
10.3390/biomedicines12061310 · 2024 · External reference
The immunoproteasome disturbs neuronal metabolism and drives neurodegeneration in multiple sclerosis
10.1016/j.cell.2025.05.029 · 2025 · External reference
Clinical, neuroimaging, and metabolic footprint of the neurodevelopmental disorder caused by monoallelic HK1 variants
10.1212/nxg.0000000000200146 · 2024 · External reference
Infantile form of muscle phosphofructokinase deficiency in a premature neonate
10.1111/ped.12616 · 2015 · External reference
Astrocyte-derived lactate aggravates brain injury of ischemic stroke in mice by promoting the formation of protein lactylation
10.7150/thno.96375 · 2024 · External reference
Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr)
10.1182/blood-2003-09-3160 · 2004 · External reference
Pyruvate kinase deficiency: the genotype-phenotype association
10.1016/j.blre.2007.01.001 · 2007 · External reference
Modulation of mitochondrial complex I activity averts cognitive decline in multiple animal models of familial Alzheimer’s disease
10.1016/j.ebiom.2015.03.009 · 2015 · External reference
Metabolic reprogramming in astrocytes results in neuronal dysfunction in intellectual disability
10.1038/s41380-022-01521-x · 2024 · External reference
Metabolic reprogramming during neuronal differentiation from aerobic glycolysis to neuronal oxidative phosphorylation
10.7554/elife.13374 · 2016 · External reference
GLP-1 improves the supportive ability of astrocytes to neurons by promoting aerobic glycolysis in Alzheimer's disease
10.1016/j.molmet.2021.101180 · 2021 · External reference
Cordycepin modulates microglial M2 polarization coupled with mitochondrial metabolic reprogramming by targeting HKII and PDK2
2024 · External reference
The anti-diabetic drug metformin rescues aberrant mitochondrial activity and restrains oxidative stress in a female mouse model of Rett syndrome
10.3390/jcm9061669 · 2020 · External reference
