Mitochondrial Dysfunction

Scientific Articles

Mitochondrial Dysfunction Is Inducible in Lymphoblastoid Cell Lines From Children With Autism and May Involve the TORC1 Pathway

Bennuri SC, Rose S, Frye RE. Mitochondrial Dysfunction Is Inducible in Lymphoblastoid Cell Lines From Children With Autism and May Involve the TORC1 Pathway. Front Psychiatry. 2019 May 7;10:269. doi: 10.3389/fpsyt.2019.00269. PMID: 31133888; PMCID: PMC6514096.

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Scientific Articles

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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Scientific Articles

Butyrate enhances mitochondrial function during oxidative stress in cell lines from boys with autism

Rose S, Bennuri SC, Davis JE, Wynne R, Slattery JC, Tippett M, Delhey L, Melnyk S, Kahler SG, MacFabe DF, Frye RE. Butyrate enhances mitochondrial function during oxidative stress in cell lines from boys with autism. Transl Psychiatry. 2018 Feb 2;8(1):42. doi: 10.1038/s41398-017-0089-z. PMID: 29391397; PMCID: PMC5804031.

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Scientific Articles

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 Dec;19(12):10.1038/gim.2017.107. doi: 10.1038/gim.2017.107. Epub 2017 Jul 27. PMID: 28749475; PMCID: PMC7804217.

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Scientific Articles

Mitochondrial dysfunction in the gastrointestinal mucosa of children with autism: A blinded case-control study

Rose S, Bennuri SC, Murray KF, Buie T, Winter H, Frye RE. Mitochondrial dysfunction in the gastrointestinal mucosa of children with autism: A blinded case-control study. PLoS One. 2017 Oct 13;12(10):e0186377. doi: 10.1371/journal.pone.0186377. PMID: 29028817; PMCID: PMC5640251.

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Scientific Articles

Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction

Burger BJ, Rose S, Bennuri SC, et al. Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction. Frontiers in Pediatrics. 2017 ;5:219. DOI: 10.3389/fped.2017.00219. PMID: 29075622; PMCID: PMC5643424.

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