Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng.2851.pdf
Reference31 articles.
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2. Perocchi, F. et al. MICU1 encodes a mitochondrial EF hand protein required for Ca2+ uptake. Nature 467, 291–296 (2010).
3. Millay, D.P. et al. Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophy. Nat. Med. 14, 442–447 (2008).
4. Boncompagni, S. et al. Characterization and temporal development of cores in a mouse model of malignant hyperthermia. Proc. Natl. Acad. Sci. USA 106, 21996–22001 (2009).
5. Duchen, M.R. & Szabadkai, G. Roles of mitochondria in human disease. Essays Biochem. 47, 115–137 (2010).
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