Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease

BACKGROUND Mitochondrial diseases belong to the group of inborn errors of metabolism (IEM), with a prevalence of 1 in 2,000–5,000 individuals. They are the most common form of IEM, but, despite advances in next-generation sequencing technologies, almost half of the patients are left genetically undi...

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Bibliographic Details

Published in:	JCI Insight
Main Authors:	Sandrina P. Correia, Marco F. Moedas, Lucie S. Taylor, Karin Naess, Albert Z. Lim, Robert McFarland, Zuzanna Kazior, Anastasia Rumyantseva, Rolf Wibom, Martin Engvall, Helene Bruhn, Nicole Lesko, Ákos Végvári, Lukas Käll, Matthias Trost, Charlotte L. Alston, Christoph Freyer, Robert W. Taylor, Anna Wedell, Anna Wredenberg
Format:	Article
Language:	English
Published:	American Society for Clinical investigation 2024-10-01
Subjects:	Metabolism
Online Access:	https://doi.org/10.1172/jci.insight.178645