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Cell|November 17, 2018
Structural Basis of Membrane Protein Chaperoning through the Mitochondrial Intermembrane SpaceKatharina Weinhäupl, Caroline Lindau, Audrey Hessel, et al.Orphanet Journal of Rare Diseases|May 3, 2013
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variantLaura Melchionda, Mingyan Fang, Hairong Wang, et al.Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.Cell Reports|February 20, 2024
Role of the small protein Mco6 in the mitochondrial sorting and assembly machineryJon V Busto, Iniyan Ganesan, Hannah Mathar, et al.Human Mutation|August 10, 2013
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeastEnrico Baruffini, Cristina Dallabona, Federica Invernizzi, et al.Cell Metabolism|November 20, 2021
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular contextMarcel Morgenstern, Christian D Peikert, Philipp Lübbert, et al.American Journal of Human Genetics|September 2, 2014
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiencyLaura Melchionda, Tobias B Haack, Steven Hardy, et al.Neurology|May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutationsCristina Dallabona, Daria Diodato, Sietske H Kevelam, et al.Pageof 2