Jeffrey Hamada
Oregon Health & Science University
5 Papers
Jeffrey Hamada is an academic researcher from Oregon Health & Science University. The author has contributed to research in topics: PANK2 & Coenzyme A. The author has an hindex of 5, co-authored 5 publications.
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Papers
Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation
Sabrina Dusi,Lorella Valletta,Tobias B. Haack,Yugo Tsuchiya,Paola Venco,Sebastiano Pasqualato,Paola Goffrini,Marco Tigano,Nikita Demchenko,Thomas Wieland,Thomas Schwarzmayr,Tim M. Strom,Federica Invernizzi,Barbara Garavaglia,Allison Gregory,Lynn Sanford,Jeffrey Hamada,Conceição Bettencourt,Henry Houlden,Luisa Chiapparini,Giovanna Zorzi,Manju A. Kurian,Manju A. Kurian,Nardo Nardocci,Holger Prokisch,Susan J. Hayflick,Ivan Gout,Valeria Tiranti +27 more
TL;DR: Changes in RNA and protein expression levels of CoA synthase, as well as CoA amount, are demonstrated in fibroblasts derived from the two clinical cases and in yeast, demonstrating the second inborn error of coenzyme A biosynthesis to be implicated in NBIA.
201
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder
Gali Heimer,Juha M. Kerätär,Lisa G. Riley,Shanti Balasubramaniam,Eran Eyal,Laura P. Pietikäinen,J. Kalervo Hiltunen,Dina Marek-Yagel,Jeffrey Hamada,Allison Gregory,Caleb Rogers,Penelope Hogarth,Martha Nance,Nechama Shalva,Alvit Veber,Michal Tzadok,Andreea Nissenkorn,Davide Tonduti,Florence Renaldo,Ichraf Kraoua,Celeste Panteghini,Lorella Valletta,Barbara Garavaglia,Mark J. Cowley,Velimir Gayevskiy,Tony Roscioli,Jonathon M. Silberstein,Chen Hoffmann,Annick Raas-Rothschild,Valeria Tiranti,Yair Anikster,John Christodoulou,Alexander J. Kastaniotis,Bruria Ben-Zeev,Susan J. Hayflick +34 more
TL;DR: The results suggest that mutations in MECR cause a distinct human disorder of the mtFAS pathway, and the observation of decreased lipoylation raises the possibility of a potential therapeutic strategy.
97
4′-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN
Suh Young Jeong,Penelope Hogarth,Andrew Placzek,Allison Gregory,Rachel Fox,Dolly Zhen,Jeffrey Hamada,Marianne van der Zwaag,Roald A. Lambrechts,Haihong Jin,Aaron Nilsen,Jared Cobb,Thao Pham,Nora E. Gray,Martina Ralle,Megan Duffy,Leila K. Schwanemann,Puneet Rai,Alison Freed,Katrina Wakeman,Randall L. Woltjer,Ody C. M. Sibon,Susan J. Hayflick +22 more
TL;DR: This work took a new approach to investigating an existing mouse mutant of Pank2 and found that isolating the disease‐vulnerable brain revealed regional perturbations in CoA metabolism, iron homeostasis, and dopamine metabolism and functional defects in complex I and pyruvate dehydrogenase.
Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency.
Ivano Di Meo,Cristina Colombelli,Balaji Srinivasan,Marianne de Villiers,Jeffrey Hamada,Suh Young Jeong,Rachel Fox,Randall L. Woltjer,Pieter G. Tepper,Liza L. Lahaye,Emanuela Rizzetto,Clara H Harrs,Theo de Boer,Marianne van der Zwaag,Branko Jenko,Alen Čusak,Jerca Pahor,Gregor Kosec,Nicola A. Grzeschik,Susan J. Hayflick,Valeria Tiranti,Ody C. M. Sibon +21 more
TL;DR: The synthesis, characteristics and in vivo rescue potential of the acetyl-Coenzyme A precursor S-acetyl-4′-phosphopantetheine is described as a possible treatment for neurodegeneration associated with pantothenate kinase deficiency.
Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.
Randall L. Woltjer,Lindsay C. Reese,Brian E. Richardson,Huong Tran,Sarah Green,Thao Pham,Megan Chalupsky,Isabella Gabriel,Tyler Light,Lynn Sanford,Suh Young Jeong,Jeffrey Hamada,Leila K. Schwanemann,Caleb Rogers,Allison Gregory,Penelope Hogarth,Susan J. Hayflick +16 more
TL;DR: Tissue or cellular hypoxic/ischemic injury within the globus pallidus may underlie the pathogenesis of PKAN, and the aggregates found to be enriched in apolipoprotein E that is poorly soluble in detergent solutions are suggested.