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In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction by Uri Sprecher, Jeevitha Dsouza, Monzer Marisat, Dinorah Barasch, Kumudesh Mishra, Or Kakhlon, Ph.D., Joshua Manor, MD.Ph.D., Yair Anikster, MD. Ph.D., Miguel Weil, Ph.D.
Published 2025-03-01Get full text
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Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models by Fangfang Zhang, Tatjana Dorn, Barbara Gnutti, Yair Anikster, Sarah Kuebler, Rebecca Ahrens-Nicklas, Rachel Gosselin, Shamima Rahman, Ronen Durst, Enrica Zanuttigh, Miriam A. Güra, Christine M. Poch, Anna B. Meier, Karl-Ludwig Laugwitz, Hans-Joachim Schüller, Ana C. Messias, Ody C. Sibon, Dario Finazzi, Alyssa Rippert, Dong Li, Kristen Truxal, Deipanjan Nandi, Brent C. Lampert, Mildrid Yeo, Alice Gardham, Batel Nissan, Smadar Horowitz Cederboim, Alessandra Moretti, Arcangela Iuso
Published 2025-07-01Get full text
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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability by Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A de Moura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls
Published 2023-04-01Get full text
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