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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: woltjer rl. Sci Rep. 2017 Sep 12;7(1):11260. doi: 10.1038/s41598-017-11564-8. Sci Rep. 2017. PMID: 28900161 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. Among authors: woltjer rl. 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.
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. 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.
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, Wilson C, Diedrich A, Green S, Tran H, Reese L, Woltjer RL, Hayflick SJ. Hogarth P, et al. Among authors: woltjer rl. Neurology. 2013 Jan 15;80(3):268-75. doi: 10.1212/WNL.0b013e31827e07be. Epub 2012 Dec 26. Neurology. 2013. PMID: 23269600 Free PMC article.
IGF1R as a Key Target in High Risk, Metastatic Medulloblastoma.
Svalina MN, Kikuchi K, Abraham J, Lal S, Davare MA, Settelmeyer TP, Young MC, Peckham JL, Cho YJ, Michalek JE, Hernandez BS, Berlow NE, Jackson M, Guillaume DJ, Selden NR, Bigner DD, Nazemi KJ, Green SC, Corless CL, Gultekin S, Mansoor A, Rubin BP, Woltjer R, Keller C. Svalina MN, et al. Sci Rep. 2016 Jun 3;6:27012. doi: 10.1038/srep27012. Sci Rep. 2016. PMID: 27255663 Free PMC article.
Manifestations of Alzheimer's disease genetic risk in the blood are evident in a multiomic analysis in healthy adults aged 18 to 90.
Heath L, Earls JC, Magis AT, Kornilov SA, Lovejoy JC, Funk CC, Rappaport N, Logsdon BA, Mangravite LM, Kunkle BW, Martin ER, Naj AC, Ertekin-Taner N, Golde TE, Hood L, Price ND; Alzheimer’s Disease Genetics Consortium. Heath L, et al. Sci Rep. 2022 Apr 12;12(1):6117. doi: 10.1038/s41598-022-09825-2. Sci Rep. 2022. PMID: 35413975 Free PMC article.
160 results