Biomarkers

Mitochondrial Supplement Improves Function and Mitochondrial Activity in Autism: A Double-Blind Placebo-Controlled Cross-Over Trial

Hill, Z.; McCarty, P.J.; Boles, R.G.; Frye, R.E. A Mitochondrial Supplement Improves Function and Mitochondrial Activity in Autism: A Double-Blind Placebo-Controlled Cross-Over Trial. Int. J. Mol. Sci. 2025, 26, 2479.

 

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Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis

Frye RE, Rincon N, Mccarty PJ, Brister D, Scheck AC, Rossignol DA. Neurobiology of Disease. 3 May 2024. https://doi.org/10.1016/j.nbd.2024.106520

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Bioenergetic Signatures of Neurodevelopmental Regression

Frye RE, Mccarty PJ, Werner BA, Rose S, Scheck A. Front. Physiol. Sec. Mitochondrial Research. Vol 15 -2024. doi: 10.3389/fphys.2024.1306038

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Folate Receptor Alpha Autoantibodies in the Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS) and Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) Population

Wells, L.; O’Hara, N.; Frye, R.E.; Hullavard, N.; Smith, E.  J. Pers. Med. 2024, 14, 166.

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Binding Folate Receptor Alpha Autoantibody Is a Biomarker for Leucovorin Treatment Response in Autism Spectrum Disorder

Frye RE, McCarty PJ, Werner BA, Scheck AC, Collins HL, Adelman SJ, Rossignol DA, Quadros EV. J Pers Med. 1 Jan 2024.

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Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half

Omri Bar , Elizabeth Vahey , Mark Mintz , Richard E. Frye , Richard G. Boles. International Journal of Molecular Sciences. 18 Jan 2024.

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PREPRINT: High Sensitivity for Detection of Primary Diagnostic Variants in Autism, Including De Novo Variants, with Trio Whole Genome Sequencing and Data Reanalysis

Omri Bar , Elizabeth Vahey , Mark Mintz , Richard E. Frye , Richard G. Boles. Preprints.org. 14 Aug 2023.

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Mitochondrial dysfunction can connect the diverse medical symptoms associated with autism spectrum disorders

Frye, R., Rossignol, D. Mitochondrial Dysfunction Can Connect the Diverse Medical Symptoms Associated With Autism Spectrum Disorders. Pediatr Res 69, 41–47 (2011).

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Substantial problems with measuring brain mitochondrial dysfunction in autism spectrum disorder using magnetic resonance spectroscopy

Rossignol, D.A., Frye, R.E. Substantial Problems with Measuring Brain Mitochondrial Dysfunction in Autism Spectrum Disorder Using Magnetic Resonance Spectroscopy. J Autism Dev Disord 42, 640–642 (2012). https://doi.org/10.1007/s10803-011-1276-z

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Mitochondrial Dysfunction in Autism Spectrum Disorders: A Systematic Review and Meta-Analysis

Rossignol, D., Frye, R. Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis. Mol Psychiatry 17, 290–314 (2012). https://doi.org/10.1038/mp.2010.136

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Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder

Frye, R., Melnyk, S. & MacFabe, D. Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder. Transl Psychiatry 3, e220 (2013). https://doi.org/10.1038/tp.2012.143

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Redox Metabolism Abnormalities in Autistic Children Associated with Mitochondrial Disease

Frye, R., DeLaTorre, R., Taylor, H. et al. Redox metabolism abnormalities in autistic children associated with mitochondrial disease. Transl Psychiatry 3, e273 (2013). https://doi.org/10.1038/tp.2013.51

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Gastrointestinal dysfunction in autism spectrum disorder: the role of the mitochondria and the enteric microbiome

Richard E. Frye, Shannon Rose, John Slattery & Derrick F. MacFabe (2015) Gastrointestinal dysfunction in autism spectrum disorder: the role of the mitochondria and the enteric microbiome, Microbial Ecology in Health and Disease, 26:1, DOI: 10.3402/mehd.v26.27458

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Mitochondrial and redox abnormalities in autism lymphoblastoid cells: a sibling control study

Rose S, Bennuri SC, Wynne R, Melnyk S, James SJ, Frye RE. Mitochondrial and redox abnormalities in autism lymphoblastoid cells: a sibling control study. FASEB J. 2017 Mar;31(3):904-909. doi: 10.1096/fj.201601004R. Epub 2016 Nov 18. PMID: 27864377; PMCID: PMC5354548.

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Mitochondrial and redox abnormalities in autism lymphoblastoid cells: a sibling control study

Rose S, Bennuri SC, Wynne R, Melnyk S, James SJ, Frye RE. Mitochondrial and redox abnormalities in autism lymphoblastoid cells: a sibling control study. FASEB J. 2017 Mar;31(3):904-909. doi: 10.1096/fj.201601004R. Epub 2016 Nov 18. PMID: 27864377; PMCID: PMC5354548.

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The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder

Delhey, L.M.; Nur Kilinc, E.; Yin, L.; Slattery, J.C.; Tippett, M.L.; Rose, S.; Bennuri, S.C.; Kahler, S.G.; Damle, S.; Legido, A.; Goldenthal, M.J.; Frye, R.E. The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder. J. Clin. Med. 2017, 6, 18. https://doi.org/10.3390/jcm6020018

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Folate metabolism abnormalities in autism: potential biomarkers

Frye RE, Slattery JC, Quadros EV. Folate metabolism abnormalities in autism: potential biomarkers. Biomark Med. 2017 Aug;11(8):687-699. doi: 10.2217/bmm-2017-0109. Epub 2017 Aug 3. PMID: 28770615.

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Novel biomarkers of metabolic dysfunction is autism spectrum disorder: potential for biological diagnostic markers

Khemakhem, A.M., Frye, R.E., El-Ansary, A. et al. Novel biomarkers of metabolic dysfunction is autism spectrum disorder: potential for biological diagnostic markers. Metab Brain Dis 32, 1983–1997 (2017). https://doi.org/10.1007/s11011-017-0085-2

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Bioenergetic variation is related to autism symptomatology

Delhey L, Kilinc EN, Yin L, Slattery J, Tippett M, Wynne R, Rose S, Kahler S, Damle S, Legido A, Goldenthal MJ, Frye RE. Bioenergetic variation is related to autism symptomatology. Metab Brain Dis. 2017 Dec;32(6):2021-2031. doi: 10.1007/s11011-017-0087-0. Epub 2017 Aug 29. PMID: 28852932; PMCID: PMC5681971.

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Multivariate techniques enable a biochemical classification of children with autism spectrum disorder versus typically-developing peers: A comparison and validation study

Howsmon DP, Vargason T, Rubin RA, Delhey L, Tippett M, Rose S, Bennuri SC, Slattery JC, Melnyk S, James SJ, Frye RE, Hahn J. Multivariate techniques enable a biochemical classification of children with autism spectrum disorder versus typically-developing peers: A comparison and validation study. Bioeng Transl Med. 2018 Jun 19;3(2):156-165. doi: 10.1002/btm2.10095. PMID: 30065970; PMCID: PMC6063877.

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Intravenous immunoglobulin for the treatment of autoimmune encephalopathy in children with autism

Connery K, Tippett M, Delhey LM, Rose S, Slattery JC, Kahler SG, Hahn J, Kruger U, Cunningham MW, Shimasaki C, Frye RE. Intravenous immunoglobulin for the treatment of autoimmune encephalopathy in children with autism. Transl Psychiatry. 2018 Aug 10;8(1):148. doi: 10.1038/s41398-018-0214-7. PMID: 30097568; PMCID: PMC6086890.

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Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder

Rose S, Niyazov DM, Rossignol DA, Goldenthal M, Kahler SG, Frye RE. Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder. Mol Diagn Ther. 2018 Oct;22(5):571-593. doi: 10.1007/s40291-018-0352-x. PMID: 30039193; PMCID: PMC6132446.

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A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses

Barone R, Alaimo S, Messina M, Pulvirenti A, Bastin J; MIMIC-Autism Group; Ferro A, Frye RE, Rizzo R. A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses. Front Psychiatry. 2018 Dec 7;9:636. doi: 10.3389/fpsyt.2018.00636. PMID: 30581393; PMCID: PMC6292950.

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A comparative study of mitochondrial respiration in circulating blood cells and skeletal muscle fibers in women

Rose S, Carvalho E, Diaz EC, Cotter M, Bennuri SC, Azhar G, Frye RE, Adams SH, Børsheim E. A comparative study of mitochondrial respiration in circulating blood cells and skeletal muscle fibers in women. Am J Physiol Endocrinol Metab. 2019 Sep 1;317(3):E503-E512. doi: 10.1152/ajpendo.00084.2019. Epub 2019 Jun 18. PMID: 31211617.

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Association With Monocyte Cytokine Profiles and Mitochondrial Respiration

Jyonouchi H, Geng L, Toruner GA, Rose S, Bennuri SC, Frye RE. Serum microRNAs in ASD: Association With Monocyte Cytokine Profiles and Mitochondrial Respiration. Front Psychiatry. 2019 Sep 10;10:614. doi: 10.3389/fpsyt.2019.00614. PMID: 31551826; PMCID: PMC6748029.

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Emerging biomarkers in autism spectrum disorder: a systematic review

Frye RE, Vassall S, Kaur G, Lewis C, Karim M, Rossignol D. Emerging biomarkers in autism spectrum disorder: a systematic review. Ann Transl Med. 2019 Dec;7(23):792. doi: 10.21037/atm.2019.11.53. PMID: 32042808; PMCID: PMC6989979.

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A Systematic Review and Meta-Analysis of Immunoglobulin G Abnormalities and the Therapeutic Use of Intravenous Immunoglobulins (IVIG) in Autism Spectrum Disorder

Rossignol DA, Frye RE. A Systematic Review and Meta-Analysis of Immunoglobulin G Abnormalities and the Therapeutic Use of Intravenous Immunoglobulins (IVIG) in Autism Spectrum Disorder. J Pers Med. 2021 May 30;11(6):488. doi: 10.3390/jpm11060488. PMID: 34070826; PMCID: PMC8229039.

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Resting State Functional Magnetic Resonance Imaging Elucidates Neurotransmitter Deficiency in Autism Spectrum Disorder.

McCarty PJ, Pines AR, Sussman BL, Wyckoff SN, Jensen A, Bunch R, Boerwinkle VL, Frye RE. Resting State Functional Magnetic Resonance Imaging Elucidates Neurotransmitter Deficiency in Autism Spectrum Disorder. J Pers Med. 2021 Sep 28;11(10):969. doi: 10.3390/jpm11100969. PMID: 34683111; PMCID: PMC8537605.

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The Effectiveness of Cobalamin (B12) Treatment for Autism Spectrum Disorder: A Systematic Review and Meta-Analysis

Rossignol DA, Frye RE. The Effectiveness of Cobalamin (B12) Treatment for Autism Spectrum Disorder: A Systematic Review and Meta-Analysis. J Pers Med. 2021 Aug 11;11(8):784. doi: 10.3390/jpm11080784. PMID: 34442428; PMCID: PMC8400809.

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A Personalized Multidisciplinary Approach to Evaluating and Treating Autism Spectrum Disorder

Frye RE. A Personalized Multidisciplinary Approach to Evaluating and Treating Autism Spectrum Disorder. J Pers Med. 2022 Mar 14;12(3):464. doi: 10.3390/jpm12030464. PMID: 35330464; PMCID: PMC8949394.

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Central Nervous System Metabolism in Autism, Epilepsy and Developmental Delays: A Cerebrospinal Fluid Analysis

Brister D, Werner BA, Gideon G, McCarty PJ, Lane A, Burrows BT, McLees S, Adelson PD, Arango JI, Marsh W, Flores A, Pankratz MT, Ly NH, Flood M, Brown D, Carpentieri D, Jin Y, Gu H, Frye RE. Central Nervous System Metabolism in Autism, Epilepsy and Developmental Delays: A Cerebrospinal Fluid Analysis. Metabolites. 2022 Apr 20;12(5):371. doi: 10.3390/metabo12050371. PMID: 35629876; PMCID: PMC9148155.

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Modern Biomarkers for Autism Spectrum Disorder: Future Directions

Jensen AR, Lane AL, Werner BA, McLees SE, Fletcher TS, Frye RE. Modern Biomarkers for Autism Spectrum Disorder: Future Directions. Mol Diagn Ther. 2022 Sep;26(5):483-495. doi: 10.1007/s40291-022-00600-7. Epub 2022 Jun 27. PMID: 35759118; PMCID: PMC9411091.

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Metabolomic Signatures of Autism Spectrum Disorder

Brister D, Rose S, Delhey L, Tippett M, Jin Y, Gu H, Frye RE. Metabolomic Signatures of Autism Spectrum Disorder. J Pers Med. 2022 Oct 17;12(10):1727. doi: 10.3390/jpm12101727. PMID: 36294866; PMCID: PMC9604590.

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The Soluble Folate Receptor in Autism Spectrum Disorder: Relation to Autism Severity and Leucovorin Treatment.

Frye RE, Lane A, Worner A, Werner BA, McCarty PJ, Scheck AC, Collins HL, Adelman SJ, Quadros EV, Rossignol DA. The Soluble Folate Receptor in Autism Spectrum Disorder: Relation to Autism Severity and Leucovorin Treatment. J Pers Med. 2022 Dec 8;12(12):2033. doi: 10.3390/jpm12122033. PMID: 36556254; PMCID: PMC9786140.

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Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders

Senarathne, U.D.; Indika, N.-L.R.; Jezela-Stanek, A.; Ciara, E.; Frye, R.E.; Chen, C.; Stepien, K.M. Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders. Genes 2023, 14, 803. https://doi.org/10.3390/genes14040803

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Synchrony 2022: Catalyzing Research and Treatments to Benefit Individuals with Neurodevelopmental Disorders including Autism Spectrum Disorders

Frye, R.E.; Nanda, H.; Pleasure, S.J.; Casanova, M.F.; Boles, R.G.; Lewine, J.; Gaitanis, J.; Adams, J.B. Synchrony 2022: Epilepsy and Seizures in Autism Spectrum Disorder Roundtable. J. Pers. Med. 2023, 13, 557. https://doi.org/10.3390/jpm13030557

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