SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

por Philipp Gut, Sanna Matilainen, Jesse G. Meyer, Pieti Pällijeff, Joy Richard, Christopher J. Carroll, Liliya Euro, Christopher B. Jackson, Pirjo Isohanni, Berge A. Minassian, Reem A. Alkhater, Elsebet Østergaard, Gabriele Civiletto, Alice Parisi, Jonathan Thevenet, Matthew J. Rardin, Wenjuan He, Yuya Nishida, John C. Newman, Xiaojing Liu, Stefan Christen, Sofia Moco, Jason W. Locasale, Birgit Schilling, Anu Suomalainen, Eric Verdin
Publicado 2020

Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease

por Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P. Ferla, Elisa Fassone, Mary‐Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry Houlden, Federica Invernizzi, Nazreen B. Kamarus Jaman, Manju A. Kurian, Eva Morava, Karin Naess, Juan Darío Ortigoza‐Escobar, Sumit Parikh, Alessandra Pennisi, Giulia Barcia, Karin B. Tylleskär, Damien Brackman, Saskia B. Wortmann, Jenny C. Taylor, Laurence A. Bindoff, Vineta Fellman, Shamima Rahman
Publicado 2021