Expanded-access use of elamipretide in a critically ill patient with Barth syndrome

Autor: Amy C. Goldstein, Cassandra Pantano, Mariya Redko, Laura E. MacMullen, Katsuhide Maeda, Matthew J. O’Connor

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101859- (2024)

Purpose: Barth syndrome (BTHS; OMIM #302060) is a rare disease characterized by cardiolipin abnormalities and cardiomyopathy, intermittent neutropenia and skeletal myopathy among other defects. Elamipretide is an investigational drug that binds to ca

Externí odkaz: https://doaj.org/article/01b2ab33b88f430a95eabdd10181c300

ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics

Autor: Dolly Prabhu, Amy C. Goldstein, Riyad El-Khoury, Malgorzata Rak, Lia Edmunds, Pierre Rustin, Jerry Vockley, Manuel Schiff

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 3, Iss C, Pp 43-46 (2015)

Adenine nucleotide translocase 2 (ANT2) transports glycolytic ATP across the inner mitochondrial membrane. Patients with ANT2 deletion were recently reported. We aimed at characterizing mitochondrial functions in ANT2-defective fibroblasts. In spite

Externí odkaz: https://doaj.org/article/1e782fc85cea4e24be2eff9c40a7592a

Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.

Autor: Margaret A Gustafson, Elizabeth M McCormick, Lalith Perera, Matthew J Longley, Renkui Bai, Jianping Kong, Matthew Dulik, Lishuang Shen, Amy C Goldstein, Shana E McCormack, Benjamin L Laskin, Bart P Leroy, Xilma R Ortiz-Gonzalez, Meredith G Ellington, William C Copeland, Marni J Falk

Publikováno v: PLoS ONE, Vol 14, Iss 9, p e0221829 (2019)

Mitochondrial DNA (mtDNA) genome integrity is essential for proper mitochondrial respiratory chain function to generate cellular energy. Nuclear genes encode several proteins that function at the mtDNA replication fork, including mitochondrial single

Externí odkaz: https://doaj.org/article/63b1a4fb63464668996acd615bcb408a

Contributors

Autor: Michael S. Abers, Daria V. Babushok, Mark Ballow, Bertrand Boisson, Vincent Robert Bonagura, Francisco A. Bonilla, João Bosco de Oliveira Filho, Kaan Boztug, Lori Broderick, Manish J. Butte, Fabio Candotti, Jean-Laurent Casanova, Shanmuganathan Chandrakasan, Antonio Condino-Neto, Yanick J. Crow, Charlotte Cunningham-Rundles, Virgil A.S.H. Dalm, Adriana A. de Jesus, Emma de Maio, Geneviève de Saint Basile, Esther de Vries, Inderjeet Dokal, Christopher J.A. Duncan, A. Durandy, Stephan Ehl, Amos Etzioni, Polly J. Ferguson, Thomas A. Fleisher, Lisa R. Forbes-Satter, Michael M. Frank, Alexandra F. Freeman, Marie-Louise Frémond, John W. Frew, Mathieu Fusaro, Eleonora Gambineri, Rebecca D. Ganetzky, Andrew R. Gennery, Raphaela Goldbach-Mansky, Amy C. Goldstein, John M. Graham, Stephanie E. Gupton, Elie Haddad, Sophie Hambleton, Eric P. Hanson, Jennifer Heimall, Miep Helfrich, Sarah E. Henrickson, Steven M. Holland, Amy P. Hsu, Soma Jyonouchi, Sara Kashef, Judith Kelsen, Maya Khalil, Christoph Klein, Lisa Kobrynski, Donald B. Kohn, S. Kracker, James G. Krueger, Pascal M. Lavoie, Heather K. Lehman, Jennifer W. Leiding, Michael J. Lenardo, Ofer Levy, Allison Pecha Lim, Michail S. Lionakis, Andrea Lisco, Vassilios Lougaris, Saul O. Lugo Reyes, M. Louise Markert, Rebecca A. Marsh, Elizabeth A. McCarthy, Isabelle Meyts, Cinzia Milito, Joshua D. Milner, Jeffrey E. Ming, Despina Moshous, Ludmila Müller, Kristina Navrazhina, Kim E. Nichols, Luigi D. Notarangelo, Eric Oksenhendler, Jordan S. Orange, Roberto Paganelli, Graham Pawelec, Tancredi Massimo Pentimalli, Elena E. Perez, Capucine Picard, Alessandro Plebani, Oscar Porras, Amanda C. Przespolewski, Anne Puel, Federica Pulvirenti, Isabella Quinti, Nima Rezaei, Ger T. Rijkers, David Walter Rosenthal, Sergio D. Rosenzweig, Brahm H. Segal, Mikko R.J. Seppänen, Irini Sereti, Anna Shcherbina, Cristina Sobacchi, Jacqueline D. Squire, Polina Stepensky, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Gulbu Uzel, Mirjam van der Burg, Anna Villa, Jean-Pierre de Villartay, Klaus Warnatz, Richard L. Wasserman, Corry M.R. Weemaes, Joyce E. Yu, Shen-Ying Zhang, John B. Ziegler

Publikováno v: Stiehm's Immune Deficiencies ISBN: 9780128167687

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8f915fe7ee94350b361b45ad0c2b83b0
https://doi.org/10.1016/b978-0-12-816768-7.01002-4