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Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model.
Zhao XJ, Mohsen AW, Mihalik S, Solo K, Aliu E, Shi H, Basu S, Kochersperger C, Van't Land C, Karunanidhi A, Coughlan KA, Siddiqui S, Rice LM, Hillier S, Guadagnin E, Giangrande PH, Martini PGV, Vockley J. Zhao XJ, et al. Among authors: kochersperger c. Mol Genet Metab. 2023 Jan;138(1):106982. doi: 10.1016/j.ymgme.2022.106982. Epub 2022 Dec 23. Mol Genet Metab. 2023. PMID: 36580829 Free PMC article.
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.
D'Annibale OM, Koppes EA, Alodaib AN, Kochersperger C, Karunanidhi A, Mohsen AW, Vockley J. D'Annibale OM, et al. Among authors: kochersperger c. Mol Genet Metab. 2021 Sep-Oct;134(1-2):29-36. doi: 10.1016/j.ymgme.2021.08.012. Epub 2021 Aug 30. Mol Genet Metab. 2021. PMID: 34535384 Free PMC article.
Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers.
Seminotti B, Leipnitz G, Karunanidhi A, Kochersperger C, Roginskaya VY, Basu S, Wang Y, Wipf P, Van Houten B, Mohsen AW, Vockley J. Seminotti B, et al. Among authors: kochersperger c. Hum Mol Genet. 2019 Mar 15;28(6):928-941. doi: 10.1093/hmg/ddy403. Hum Mol Genet. 2019. PMID: 30445591 Free PMC article.