4′‐Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN
Jeong, Suh Young, Hogarth, Penelope, Placzek, Andrew, Gregory, Allison M, Fox, Rachel, Zhen, Dolly, Hamada, Jeffrey, van der Zwaag, Marianne, Lambrechts, Roald, Jin, Haihong, Nilsen, Aaron, Cobb, Jared, Pham, Thao, Gray, Nora, Ralle, Martina, Duffy, Megan, Schwanemann, Leila, Rai, Puneet, Freed, Alison, Wakeman, Katrina, Woltjer, Randall L, Sibon, Ody CM, Hayflick, Susan J
Published in EMBO molecular medicine (01.12.2019)
Published in EMBO molecular medicine (01.12.2019)
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Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation
Dusi, Sabrina, Valletta, Lorella, Haack, Tobias B., Tsuchiya, Yugo, Venco, Paola, Pasqualato, Sebastiano, Goffrini, Paola, Tigano, Marco, Demchenko, Nikita, Wieland, Thomas, Schwarzmayr, Thomas, Strom, Tim M., Invernizzi, Federica, Garavaglia, Barbara, Gregory, Allison, Sanford, Lynn, Hamada, Jeffrey, Bettencourt, Conceição, Houlden, Henry, Chiapparini, Luisa, Zorzi, Giovanna, Kurian, Manju A., Nardocci, Nardo, Prokisch, Holger, Hayflick, Susan, Gout, Ivan, Tiranti, Valeria
Published in American journal of human genetics (02.01.2014)
Published in American journal of human genetics (02.01.2014)
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Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency
Di Meo, Ivano, Colombelli, Cristina, Srinivasan, Balaji, de Villiers, Marianne, Hamada, Jeffrey, Jeong, Suh Y, Fox, Rachel, Woltjer, Randall L, Tepper, Pieter G, Lahaye, Liza L, Rizzetto, Emanuela, Harrs, Clara H, de Boer, Theo, van der Zwaag, Marianne, Jenko, Branko, Čusak, Alen, Pahor, Jerca, Kosec, Gregor, Grzeschik, Nicola A, Hayflick, Susan J, Tiranti, Valeria, Sibon, Ody C M
Published in Scientific reports (12.09.2017)
Published in Scientific reports (12.09.2017)
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Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus
Woltjer, Randall L., Reese, Lindsay C., Richardson, Brian E., Tran, Huong, Green, Sarah, Pham, Thao, Chalupsky, Megan, Gabriel, Isabella, Light, Tyler, Sanford, Lynn, Jeong, Suh Young, Hamada, Jeffrey, Schwanemann, Leila K., Rogers, Caleb, Gregory, Allison, Hogarth, Penelope, Hayflick, Susan J.
Published in Molecular genetics and metabolism (01.12.2015)
Published in Molecular genetics and metabolism (01.12.2015)
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Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globuspallidus
Woltjer, Randall L., Reese, Lindsay C., Richardson, Brian E., Tran, Huong, Green, Sarah, Pham, Thao, Chalupsky, Megan, Gabriel, Isabella, Light, Tyler, Sanford, Lynn, Jeong, Suh Y., Hamada, Jeffrey, Schwanemann, Leila K., Rogers, Caleb, Gregory, Allison, Hogarth, Penelope, Hayflick, Susan J.
Published in Molecular genetics and metabolism (31.10.2015)
Published in Molecular genetics and metabolism (31.10.2015)
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