Deficits in bioenergetics and impaired immune response in granulocytes from children with autism

Napoli, Eleonora; Wong, Sarah; Hertz-Picciotto, Irva; Giulivi, Cecilia

doi:10.1542/peds.2013-1545

Cited by 117Mitochondrial Function and PathologyAutism Spectrum Disorder ResearchAutophagy in Disease and Therapy

Deficits in bioenergetics and impaired immune response in granulocytes from children with autism

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Napoli, Eleonora, Wong, Sarah, Hertz-Picciotto, Irva, Giulivi, Cecilia·2014·Pediatrics

DOI 10.1542/peds.2013-1545PMC PMC4006429

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Abstract

Despite the emerging role of mitochondria in immunity, a link between bioenergetics and the immune response in autism has not been explored. Mitochondrial outcomes and phorbol 12-myristate 13-acetate (PMA)–induced oxidative burst were evaluated in granulocytes from age-, race-, and gender-matched children with autism with severity scores of ≥7 (n = 10) and in typically developing (TD) children (n = 10). The oxidative phosphorylation capacity of granulocytes was 3-fold lower in children with autism than in TD children, with multiple deficits encompassing ≥1 Complexes. Higher oxidative stress in cells of children with autism was evidenced by higher rates of mitochondrial reactive oxygen species production (1.6-fold), higher mitochondrial DNA copy number per cell (1.5-fold), and increased deletions. Mitochondrial dysfunction in children with autism was accompanied by a lower (26% of TD children) oxidative burst by PMA-stimulated reduced nicotinamide-adenine dinucleotide phosphate (NADPH) oxidase and by a lower gene expression (45% of TD children's mean values) of the nuclear factor erythroid 2–related factor 2 transcription factor involved in the antioxidant response. Given that the majority of granulocytes of children with autism exhibited defects in oxidative phosphorylation, immune response, and antioxidant defense, our results support the concept that immunity and response to oxidative stress may be regulated by basic mitochondrial functions as part of an integrated metabolic network.

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Several lines of evidence indicate oxidative stress and mitochondrial dysfunction are prevalent in individuals with ASD.
“There are presently several lines of evidence indicating oxidative stress and mitochondrial dysfunction are prevalent in individuals with ASD [3,10,11,12,13,14,15,16].”
From Vitamin D and Autism Spectrum Disorder: A Literature Review (2016) · cites this paper as [12]

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Sulforaphane treatment of autism spectrum disorder (ASD)
Singh, K., Connors, S. L., Macklin, E. A., Smith, K. D., Fahey, J. W., Talalay, P., & Zimmerman, A. W. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1416940111 · Cited by 449 · see citing works
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Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder
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Oxidative Stress in Autism Spectrum Disorder—Current Progress of Mechanisms and Biomarkers
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Mitochondrial Dysfunction in Autism Spectrum Disorder: Unique Abnormalities and Targeted Treatments
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Glyphosate, pathways to modern diseases III: Manganese, neurological diseases, and associated pathologies
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Gastrointestinal dysfunction in autism spectrum disorder: the role of the mitochondria and the enteric microbiome
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A Prospective Study of Environmental Exposures and Early Biomarkers in Autism Spectrum Disorder: Design, Protocols, and Preliminary Data from the MARBLES Study
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Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis
Frye, R. E., Rincon, N., McCarty, P. J., Brister, D., Scheck, A. C., & Rossignol, D. A. (2024) · Neurobiology of Disease · doi:10.1016/j.nbd.2024.106520 · Cited by 127 · see citing works
Metabolic and mitochondrial disorders associated with epilepsy in children with Autism Spectrum Disorder
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Autism genes are selectively targeted by environmental pollutants including pesticides, heavy metals, bisphenol A, phthalates and many others in food, cosmetics or household products
Carter, C. J., & Blizard, R. (2016) · Neurochemistry International · doi:10.1016/j.neuint.2016.10.011 · Cited by 114 · see citing works
Vitamin D and Autism Spectrum Disorder: A Literature Review
Mazahery, H., Camargo, C., Conlon, C., Beck, K., Kruger, M., & Von Hurst, P. (2016) · Nutrients · doi:10.3390/nu8040236 · Cited by 110 · see citing works
Mitochondrial function and abnormalities implicated in the pathogenesis of ASD
Castora, F. J. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2018.12.015 · Cited by 104 · see citing works
Mitochondria as pharmacological targets in Down syndrome
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Identification and treatment of pathophysiological comorbidities of autism spectrum disorder to achieve optimal outcomes
Frye, R. E., & Rossignol, D. A. (2016) · Clinical Medicine Insights Pediatrics · doi:10.4137/cmped.s38337 · Cited by 96 · see citing works
Toll-like receptor 4 signaling is associated with upregulated NADPH oxidase expression in peripheral T cells of children with autism
Nadeem, A., Ahmad, S. F., Bakheet, S. A., Al-Harbi, N. O., AL-Ayadhi, L. Y., Attia, S. M., & Zoheir, K. M. A. (2016) · Brain Behavior and Immunity · doi:10.1016/j.bbi.2016.12.024 · Cited by 96 · see citing works
Treatments for Biomedical Abnormalities Associated with Autism Spectrum Disorder
Frye, R. E., & Rossignol, D. A. (2014) · Frontiers in Pediatrics · doi:10.3389/fped.2014.00066 · Cited by 90 · see citing works
Potential Therapeutic Use of the Ketogenic Diet in Autism Spectrum Disorders
Napoli, E., DueÃ±as, N., & Giulivi, C. (2014) · Frontiers in Pediatrics · doi:10.3389/fped.2014.00069 · Cited by 88 · see citing works
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A certain role of SOD/CAT imbalance in pathogenesis of autism spectrum disorders
Yenkoyan, K. B., Harutyunyan, H. A., & Harutyunyan, A. (2018) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2018.05.070 · Cited by 88 · see citing works
The spatiotemporal regulation of the Keap1–Nrf2 pathway and its importance in cellular bioenergetics
Dinkova‐Kostova, A. T., Baird, L., Holmström, K. M., Meyer, C. J., & Abramov, A. Y. (2015) · Biochemical Society Transactions · doi:10.1042/bst20150003 · Cited by 86 · see citing works
Cerebral Folate Deficiency, Folate Receptor Alpha Autoantibodies and Leucovorin (Folinic Acid) Treatment in Autism Spectrum Disorders: A Systematic Review and Meta-Analysis
Rossignol, D. A., & Frye, R. E. (2021) · Journal of Personalized Medicine · doi:10.3390/jpm11111141 · Cited by 86 · see citing works
Prenatal Choline Supplementation Diminishes Early-Life Iron Deficiency–Induced Reprogramming of Molecular Networks Associated with Behavioral Abnormalities in the Adult Rat Hippocampus
Tran, P. V., Kennedy, B. C., Pisansky, M. T., Won, K., Gewirtz, J. C., Simmons, R. A., & Georgieff, M. (2016) · Journal of Nutrition · doi:10.3945/jn.115.227561 · Cited by 83 · see citing works
Mitochondrial and redox abnormalities in autism lymphoblastoid cells: a sibling control study
Rose, S., Bennuri, S. C., Wynne, R. A., Melnyk, S., James, S. J., & Frye, R. E. (2016) · The FASEB Journal · doi:10.1096/fj.201601004r · Cited by 77 · see citing works
Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome
Napoli, E., Tassone, F., Wong, S., Angkustsiri, K., Simon, T. J., Song, G., & Giulivi, C. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m115.672360 · Cited by 68 · see citing works
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Upregulation of IL-9 and JAK-STAT signaling pathway in children with autism
Ahmad, S. F., Nadeem, A., Ansari, M. A., Bakheet, S. A., AL-Ayadhi, L. Y., & Attia, S. M. (2017) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.08.002 · Cited by 70 · see citing works
Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder
Wang, Y., Picard, M. A., & Gu, Z. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1006391 · Cited by 67 · see citing works
Prenatal air pollution influences neurodevelopment and behavior in autism spectrum disorder by modulating mitochondrial physiology
Frye, R. E., Cakir, J., Rose, S., Delhey, L. M., Bennuri, S. C., Tippett, M., Melnyk, S., James, S. J., Palmer, R. F., Austin, C. E., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-020-00885-2 · Cited by 67 · see citing works
Cytokines profile and peripheral blood mononuclear cells morphology in Rett and autistic patients
Pecorelli, A., Cervellati, F., Belmonte, G., Montagner, G., Waldon, P., Hayek, J., Gambari, R., & Valacchi, G. (2015) · Cytokine · doi:10.1016/j.cyto.2015.10.002 · Cited by 67 · see citing works
Mitochondrial targeting as a novel therapy for stroke
Borlongan, C., Russo, E., Nguyen, H., Lippert, T., Tuazon, J. P., & Napoli, E. (2018) · Brain Circulation · doi:10.4103/bc.bc_14_18 · Cited by 67 · see citing works
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Nutritional Neuroscience as Mainstream of Psychiatry: The Evidence- Based Treatment Guidelines for Using Omega-3 Fatty Acids as a New Treatment for Psychiatric Disorders in Children and Adolescents
Chang, J. P., & Su, K. (2020) · Clinical Psychopharmacology and Neuroscience · doi:10.9758/cpn.2020.18.4.469 · Cited by 68 · see citing works
Biomarker Exploration in Human Peripheral Blood Mononuclear Cells for Monitoring Sulforaphane Treatment Responses in Autism Spectrum Disorder
Liu, H., Zimmerman, A. W., Singh, K., Connors, S. L., Diggins, E., Stephenson, K. K., Dinkova‐Kostova, A. T., & Fahey, J. W. (2020) · Scientific Reports · doi:10.1038/s41598-020-62714-4 · Cited by 65 · see citing works
Oxidative and inflammatory mediators are upregulated in neutrophils of autistic children: Role of IL-17A receptor signaling
Nadeem, A., Ahmad, S. F., Attia, S. M., AL-Ayadhi, L. Y., Bakheet, S. A., & Al-Harbi, N. O. (2019) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2018.12.002 · Cited by 63 · see citing works
Mitochondrial dysfunction: A hidden trigger of autism?
Vellingiri, B., Rajagopalan, K., Jayaramayya, K., Jeevanandam, M., & Iyer, M. (2020) · Genes & Diseases · doi:10.1016/j.gendis.2020.07.002 · Cited by 61 · see citing works
Developmental regression and mitochondrial function in children with autism
Singh, K., Singh, I. N., Diggins, E., Connors, S. L., Karim, M. A., Lee, D. J., Zimmerman, A. W., & Frye, R. E. (2020) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51034 · Cited by 61 · see citing works
Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion
Varga, N. Á., Pentelényi, K., Balicza, P., Gézsi, A., Reményi, V., Hársfalvi, V., Bencsik, R., Illés, A., Prekop, C., & Molnár, M. J. (2018) · Behavioral and Brain Functions · doi:10.1186/s12993-018-0135-x · Cited by 59 · see citing works
Oxidative stress response and NRF2 signaling pathway in autism spectrum disorder
Davinelli, S., Medoro, A., Siracusano, M., Savino, R., Saso, L., Scapagnini, G., & Mazzone, L. (2025) · Redox Biology · doi:10.1016/j.redox.2025.103661 · Cited by 56 · see citing works
Early life metal exposure dysregulates cellular bioenergetics in children with regressive autism spectrum disorder
Frye, R. E., Cakir, J., Rose, S., Delhey, L. M., Bennuri, S. C., Tippett, M., Palmer, R. F., Austin, C. E., Curtin, P. C. P., & Arora, M. (2020) · Translational Psychiatry · doi:10.1038/s41398-020-00905-3 · Cited by 55 · see citing works
Autistic spectrum disorder (ASD) – Gene, molecular and pathway signatures linking systemic inflammation, mitochondrial dysfunction, transsynaptic signalling, and neurodevelopment
Gevezova, M., Sbirkov, Y., Sarafian, V. S., Plaimas, K., Suratanee, A., & Maes, M. H. J. (2023) · Brain Behavior & Immunity - Health · doi:10.1016/j.bbih.2023.100646 · Cited by 54 · see citing works
Early Disruption of the Microbiome Leading to Decreased Antioxidant Capacity and Epigenetic Changes: Implications for the Rise in Autism
Eshraghi, R. S., Deth, R. C., Mittal, R., Aranke, M., Kay, S.-I. S., Moshiree, B., & Eshraghi, A. A. (2018) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2018.00256 · Cited by 55 · see citing works
Altered Bioenergetics in Primary Dermal Fibroblasts from Adult Carriers of the FMR1 Premutation Before the Onset of the Neurodegenerative Disease Fragile X-Associated Tremor/Ataxia Syndrome
Napoli, E., Song, G., Wong, S., Hagerman, R. J., & Giulivi, C. (2016) · The Cerebellum · doi:10.1007/s12311-016-0779-8 · Cited by 48 · see citing works
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The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder
Delhey, L. M., Kilinc, E. N., Yin, L., Slattery, J. M., Tippett, M., Rose, S., Bennuri, S. C., Kahler, S. G., Damle, S., Legido, A., et al. (2017) · Journal of Clinical Medicine · doi:10.3390/jcm6020018 · Cited by 47 · see citing works
Alterations of mitochondrial bioenergetics, dynamics, and morphology support the theory of oxidative damage involvement in autism spectrum disorder
Pecorelli, A., Ferrara, F., Messano, N., Cordone, V., Schiavone, M. L., Cervellati, F., Woodby, B. L., Cervellati, C., Hayek, J., & Valacchi, G. (2020) · The FASEB Journal · doi:10.1096/fj.201902677r · Cited by 47 · see citing works
Differential expression of the nuclear-encoded mitochondrial transcriptome in pediatric septic shock
Weiss, S. L., Cvijanovich, N. Z., Allen, G. L., Thomas, N. J., Freishtat, R. J., ANAS, N. G., Meyer, K., Checchia, P. A., Shanley, T. P., Bigham, M. T., et al. (2014) · Critical Care · doi:10.1186/preaccept-2292040841290621 · Cited by 45 · see citing works
Mitochondrial morphology is associated with respiratory chain uncoupling in autism spectrum disorder
Frye, R. E., Lionnard, L., Singh, I. N., Karim, M. A., Chajra, H., Fréchet, M., Kissa, K., Racine, V., Ammanamanchi, A., McCarty, P. J., et al. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01647-6 · Cited by 43 · see citing works
Nrf2 Activators as Dietary Phytochemicals Against Oxidative Stress, Inflammation, and Mitochondrial Dysfunction in Autism Spectrum Disorders: A Systematic Review
Yang, J., Fu, X. B., Liao, X., & Li, Y. (2020) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2020.561998 · Cited by 40 · see citing works
Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder
Barone, R. M. E., Rizzo, R., Tabbı̀, G., Malaguarnera, M., Frye, R. E., & Bastin, J. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20081878 · Cited by 39 · see citing works
Olfactory stem cells reveal MOCOS as a new player in autism spectrum disorders
Feron, F. P., Gepner, B., Lacassagne, E., Stephan, D., Mesnage, B., Blanchard, M.-P., Boulanger, N., Tardif, C., Devèze, A., Rousseau, S., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2015.106 · Cited by 38 · see citing works
Mitochondria May Mediate Prenatal Environmental Influences in Autism Spectrum Disorder
Frye, R. E., Cakir, J., Rose, S., Palmer, R. F., Austin, C. E., Curtin, P. C. P., & Arora, M. (2021) · Journal of Personalized Medicine · doi:10.3390/jpm11030218 · Cited by 38 · see citing works
Frequency and association of mitochondrial genetic variants with neurological disorders
da Cruz, A. C. P., Ferrasa, A., Muotri, A. R., & Herai, R. H. (2018) · Mitochondrion · doi:10.1016/j.mito.2018.09.005 · Cited by 37 · see citing works
The Role of Oxidative Stress in Autism Spectrum Disorder Pathophysiology, Diagnosis and Treatment
Kuźniar-Pałka, A. (2025) · Biomedicines · doi:10.3390/biomedicines13020388 · Cited by 36 · see citing works
Metabolic regulation and glucose sensitivity of cortical radial glial cells
Rash, B. G., Micali, N., Huttner, A. J., Morozov, Y. M., Horváth, T. L., & RAKIC, P. T. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1808066115 · Cited by 36 · see citing works
Bioenergetic variation is related to autism symptomatology
Delhey, L. M., Kilinc, E. N., Yin, L., Slattery, J. M., Tippett, M., Wynne, R. A., Rose, S., Kahler, S. G., Damle, S., Legido, A., et al. (2017) · Metabolic Brain Disease · doi:10.1007/s11011-017-0087-0 · Cited by 32 · see citing works
Variations in Mitochondrial Respiration Differ in IL-1ß/IL-10 Ratio Based Subgroups in Autism Spectrum Disorders
Jyonouchi, H., Geng, L., Rose, S., Bennuri, S. C., & Frye, R. E. (2019) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2019.00071 · Cited by 31 · see citing works
Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency
Fujisawa, Y., Napoli, E., Wong, S., Song, G., Yamaguchi, R., Matsui, T., Nagasaki, K., Ogata, T., & Giulivi, C. (2014) · BBA Clinical · doi:10.1016/j.bbacli.2014.12.003 · Cited by 30 · see citing works
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Viruses and autism: A Bi-mutual cause and effect
Al‐Beltagi, M., Saeed, N. K., Elbeltagi, R. M., Bediwy, A. S., Aftab, S. A. S., & Alhawamdeh, R. (2023) · World Journal of Virology · doi:10.5501/wjv.v12.i3.172 · Cited by 32 · see citing works
Novel Probable Glance at Inflammatory Scenario Development in Autistic Pathology
Harutyunyan, A., Harutyunyan, H. A., & Yenkoyan, K. B. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.788779 · Cited by 29 · see citing works
Understanding the Role of Dysfunctional and Healthy Mitochondria in Stroke Pathology and Its Treatment
Nguyen, H., Zarriello, S., Rajani, M., Tuazon, J. P., Napoli, E., & Borlongan, C. V. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19072127 · Cited by 27 · see citing works
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Seizures and Epilepsy in Autism Spectrum Disorder
Besag, F., & Vasey, M. J. (2020) · Child and Adolescent Psychiatric Clinics of North America · doi:10.1016/j.chc.2020.02.002 · Cited by 25 · see citing works
Oxidative Stress Challenge Uncovers Trichloroacetaldehyde Hydrate-Induced Mitoplasticity in Autistic and Control Lymphoblastoid Cell Lines
Frye, R. E., Rose, S., Wynne, R. A., Bennuri, S. C., Blossom, S. J., Gilbert, K. M., Heilbrun, L. P., & Palmer, R. F. (2017) · Scientific Reports · doi:10.1038/s41598-017-04821-3 · Cited by 25 · see citing works
Decreased cortical Nrf2 gene expression in autism and its relationship to thiol and cobalamin status
Schrier, M. S., Zhang, Y., Trivedi, M. S., & Deth, R. C. (2021) · Biochimie · doi:10.1016/j.biochi.2021.09.006 · Cited by 24 · see citing works
Mitochondrial DNA copy number in autism spectrum disorder and attention deficit hyperactivity disorder: a systematic review and meta-analysis
Al‐Kafaji, G., Jahrami, H., Alwehaidah, M. S., Alshammari, Y. H., & Husni, M. (2023) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2023.1196035 · Cited by 23 · see citing works
Expression of Reactive Oxygen Species–Related Transcripts in Egyptian Children With Autism
Meguid, N. A., Ghozlan, S. A. S., Mohamed, M. F., Ibrahim, M. K., Dawood, R. M., Din, N. G. B. E., Abdelhafez, T. H., Hemimi, M., & Awady, M. K. E. (2017) · Biomarker Insights · doi:10.1177/1177271917691035 · Cited by 23 · see citing works
Seizures and Epilepsy in Autism Spectrum Disorder
Besag, F., & Vasey, M. J. (2021) · Psychiatric Clinics of North America · doi:10.1016/j.psc.2020.11.005 · Cited by 24 · see citing works
Update on Atypicalities of Central Nervous System in Autism Spectrum Disorder
Shuid, A. N., Jayusman, P. A., Shuid, N., Ismail, J., Nor, N. K., & Mohamed, I. N. (2020) · Brain Sciences · doi:10.3390/brainsci10050309 · Cited by 20 · see citing works
Effect of stigma maydis polysaccharide on the gut microbiota and transcriptome of VPA induced autism model rats
Yang, X., Li, J., Zhou, Y., Zhang, N., & Liu, J. (2022) · Frontiers in Microbiology · doi:10.3389/fmicb.2022.1009502 · Cited by 19 · see citing works
Neuroinflammation, Energy and Sphingolipid Metabolism Biomarkers Are Revealed by Metabolic Modeling of Autistic Brains
Esvap, E., & Ülgen, K. Ö. (2023) · Biomedicines · doi:10.3390/biomedicines11020583 · Cited by 18 · see citing works
Autism, Mitochondria and Polybrominated Diphenyl Ether Exposure
Wong, S., & Giulivi, C. (2016) · CNS & Neurological Disorders - Drug Targets · doi:10.2174/1871527315666160413122624 · Cited by 18 · see citing works
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Autism spectrum disorder (ASD)-associated mitochondrial deficits are revealed in children’s platelets but unimproved by hyperbaric oxygen therapy
Abdel‐Rahman, E. A., Zaky, E. A., Aboulsaoud, M., Elhossiny, R. M., Youssef, W. Y., Mahmoud, A. M., & Ali, S. S. (2021) · Free Radical Research · doi:10.1080/10715762.2020.1856376 · Cited by 18 · see citing works
Blood cell respiration rates and mtDNA copy number: A promising tool for the diagnosis of mitochondrial disease
Alonso, M., Zabala, C., Mansilla, S., Brun, L. D., Martínez, J., Garau, M., Rivas, G., Acosta, C., Lens, D., Cerisola, A., et al. (2021) · Mitochondrion · doi:10.1016/j.mito.2021.09.004 · Cited by 17 · see citing works
NLRP3 inflammasome-mitochondrion loop in autism spectrum disorder
Vallese, A., Cordone, V., Ferrara, F., Guiotto, A., Gemmo, L., Cervellati, F., Hayek, J., Pecorelli, A., & Valacchi, G. (2024) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2024.10.297 · Cited by 16 · see citing works
Dysregulated Nrf2 signaling in response to di(2-ethylhexyl) phthalate in neutrophils of children with autism
Nadeem, A., Ahmad, S. F., Al-Harbi, N. O., AL-Ayadhi, L. Y., Alanazi, M. M., Alfardan, A. S., Attia, S. M., Algahtani, M., & Bakheet, S. A. (2022) · International Immunopharmacology · doi:10.1016/j.intimp.2022.108619 · Cited by 16 · see citing works
Mitochondrial Dysfunction in Attention Deficit Hyperactivity Disorder
Öğütlü, H., Kaşak, M., & Tabur, S. T. (2023) · Eurasian Journal of Medicine · doi:10.5152/eurasianjmed.2022.22187 · Cited by 15 · see citing works
Autism genes and the leukocyte transcriptome in autistic toddlers relate to pathogen interactomes, infection and the immune system. A role for excess neurotrophic sAPPα and reduced antimicrobial Aβ
Carter, C. (2019) · Neurochemistry International · doi:10.1016/j.neuint.2019.03.007 · Cited by 15 · see citing works
Bioenergetic signatures of neurodevelopmental regression
Frye, R. E., McCarty, P. J., Werner, B. A., Rose, S., & Scheck, A. C. (2024) · Frontiers in Physiology · doi:10.3389/fphys.2024.1306038 · Cited by 14 · see citing works
Gut Microbiome and Autism: Recent Advances and Future Perspectives
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Oxidative stress and neuroimmune proteins in a mouse model of autism
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Ketogenic diet leads to O-GlcNAc modification in the BTBRT+tf/j mouse model of autism
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Mitochondrial dysfunction in autism
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Self-citation
Mitochondrial dysfunction in immune cells derived from children with autism spectrum disorder (ASD): A unique metabolic endophenotype of children with ASD
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Increased susceptibility to reactive oxygen species in autism lymphoblastoid cells is mediated by mitochondrial dysfunction
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Mitochondrial Energy-Deficient Endophenotype in Autism
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Authors: Napoli, E., Wong, S., Hertz-Picciotto, I., & Giulivi, C.
Affiliations: Department of Molecular Biosciences, School of Veterinary Medicine,
Department of Public Health Sciences, School of Medicine, and
University of California, Davis (US)
ORCID: Napoli, Eleonora
Wong, Sarah
Giulivi, Cecilia
Venue: Pediatrics
Publisher: American Academy of Pediatrics (AAP)
Published: 2014-05-01
Volume: 133
Issue: 5
Pages: e1405-e1410
ISSN: 0031-4005 (ISSN-L)
1098-4275
DOI: 10.1542/peds.2013-1545
PMC: PMC4006429
OpenAlex: W2156732833
Cited by: 117
References: 78
Citations by year: 2026: 4 · 2025: 8 · 2024: 8 · 2023: 12 · 2022: 5 · 2021: 9 · 2020: 13 · 2019: 5 · 2018: 15 · 2017: 10 · 2016: 12 · 2015: 10 · 2014: 6
FWCI: 1.19
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: PEDIATRICS (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
eScholarship (California Digital Library) (submittedVersion)
Funders: Simons Foundation (271406)
Simons Foundation Autism Research Initiative
National Institutes of Health (ES011269)
National Institute of Environmental Health Sciences (R01-ES011269, ES020392, R01ES020392, ES015359, R01ES015359, ES011269, P01ES011269, 271406)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Health Sciences › Medicine › Epidemiology › Autophagy in Disease and Therapy
Keywords: autism spectrum disorder, mitochondrial dysfunction, bioenergetics, granulocytes, oxidative phosphorylation, respiratory burst, NADPH oxidase, NF-E2-related factor 2, oxidative stress, mitochondrial DNA deletions, reactive oxygen species, children
MeSH terms: Child, Child Development Disorders, Pervasive, Energy Metabolism, Granulocytes, Humans, Oxidative Phosphorylation, Oxygen Consumption, Superoxides

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Deficits in bioenergetics and impaired immune response in granulocytes from children with autism

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