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Page 1
PKAN pathogenesis and treatment.
Hayflick SJ, Jeong SY, Sibon OCM. Hayflick SJ, et al. Among authors: jeong sy. Mol Genet Metab. 2022 Nov;137(3):283-291. doi: 10.1016/j.ymgme.2022.09.011. Epub 2022 Oct 5. Mol Genet Metab. 2022. PMID: 36240582 Free PMC article. Review.
Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.
Woltjer RL, Reese LC, Richardson BE, Tran H, Green S, Pham T, Chalupsky M, Gabriel I, Light T, Sanford L, Jeong SY, Hamada J, Schwanemann LK, Rogers C, Gregory A, Hogarth P, Hayflick SJ. Woltjer RL, et al. Among authors: jeong sy. Mol Genet Metab. 2015 Dec;116(4):289-97. doi: 10.1016/j.ymgme.2015.10.012. Epub 2015 Oct 31. Mol Genet Metab. 2015. PMID: 26547561 Free PMC article.
Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency.
Di Meo I, Colombelli C, Srinivasan B, de Villiers M, Hamada J, Jeong SY, Fox R, Woltjer RL, Tepper PG, Lahaye LL, Rizzetto E, Harrs CH, de Boer T, van der Zwaag M, Jenko B, Čusak A, Pahor J, Kosec G, Grzeschik NA, Hayflick SJ, Tiranti V, Sibon OCM. Di Meo I, et al. Among authors: jeong sy. Sci Rep. 2017 Sep 12;7(1):11260. doi: 10.1038/s41598-017-11564-8. Sci Rep. 2017. PMID: 28900161 Free PMC article.
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).
Gregory A, Lotia M, Jeong SY, Fox R, Zhen D, Sanford L, Hamada J, Jahic A, Beetz C, Freed A, Kurian MA, Cullup T, van der Weijden MCM, Nguyen V, Setthavongsack N, Garcia D, Krajbich V, Pham T, Woltjer R, George BP, Minks KQ, Paciorkowski AR, Hogarth P, Jankovic J, Hayflick SJ. Gregory A, et al. Among authors: jeong sy. Mol Genet Genomic Med. 2019 Jul;7(7):e00736. doi: 10.1002/mgg3.736. Epub 2019 May 13. Mol Genet Genomic Med. 2019. PMID: 31087512 Free PMC article.
4'-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN.
Jeong SY, Hogarth P, Placzek A, Gregory AM, Fox R, Zhen D, Hamada J, van der Zwaag M, Lambrechts R, Jin H, Nilsen A, Cobb J, Pham T, Gray N, Ralle M, Duffy M, Schwanemann L, Rai P, Freed A, Wakeman K, Woltjer RL, Sibon OC, Hayflick SJ. Jeong SY, et al. EMBO Mol Med. 2019 Dec;11(12):e10489. doi: 10.15252/emmm.201910489. Epub 2019 Oct 29. EMBO Mol Med. 2019. PMID: 31660701 Free PMC article.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study; Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium; Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource; Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network; Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D… See abstract for full author list ➔ Cif L, et al. Among authors: jeong sy. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
Cardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiency.
Papandreou A, Singh N, Gianfrancesco L, Budinger D, Barwick K, Agrotis A, Luft C, Shao Y, Lenaerts AS, Gregory A, Jeong SY, Hogarth P, Hayflick S, Barral S, Kriston-Vizi J, Gissen P, Kurian MA, Ketteler R. Papandreou A, et al. Among authors: jeong sy. bioRxiv [Preprint]. 2024 Jun 17:2023.09.13.556416. doi: 10.1101/2023.09.13.556416. bioRxiv. 2024. PMID: 37745522 Free PMC article. Preprint.
Coenzyme A protects against ferroptosis via CoAlation of thioredoxin reductase 2.
Chi JT, Lin CC, Lin YT, Chen SY, Setayeshpour Y, Chen Y, Dunn D, Soderblom E, Zhang GF, Filonenko V, Jeong SY, Floyd S, Hayflick S, Gout I. Chi JT, et al. Among authors: jeong sy. Res Sq [Preprint]. 2024 Jun 18:rs.3.rs-4522617. doi: 10.21203/rs.3.rs-4522617/v1. Res Sq. 2024. PMID: 38947036 Free PMC article. Preprint.
1,546 results