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Disease Models & Mechanisms|March 6, 2019
The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondriaLaura Martorano, Margherita Peron, Claudio Laquatra, et al.
American Journal of Human Genetics|April 6, 2010
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factorDaniele Ghezzi, Irina Sevrioukova, Federica Invernizzi, et al.
EMBO Molecular Medicine|April 16, 2015
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathyLeonardo Bee, Alessia Nasca, Alice Zanolini, et al.
Nature Medicine|January 13, 2009
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathyValeria Tiranti, Carlo Viscomi, Tatjana Hildebrandt, et al.
FEBS Letters|October 22, 2002
The short N-terminus is required for functional expression of the virus-encoded miniature K(+) channel KcvAnna Moroni, Carlo Viscomi, Vanessa Sangiorgio, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 12, 2011
Deep bradycardia and heart block caused by inducible cardiac-specific knockout of the pacemaker channel gene Hcn4Mirko Baruscotti, Annalisa Bucchi, Carlo Viscomi, et al.
Plos Genetics|May 3, 2011
Evolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutationsRaquel Moreno-Loshuertos, Gustavo Ferrín, Rebeca Acín-Pérez, et al.
Cell Metabolism|January 11, 2016
Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHBNunziata Maio, Daniele Ghezzi, Daniela Verrigni, et al.
Biochimica Et Biophysica Acta. Bioenergetics|December 12, 2019
Bioenergetic consequences from xenotopic expression of a tunicate AOX in mouse mitochondria: Switch from RET and ROS to FETMarten Szibor, Timur Gainutdinov, Erika Fernandez-Vizarra, et al.
Annals of Neurology|March 29, 2020
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic NeuropathyLeonardo Caporali, Stefania Magri, Andrea Legati, et al.
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