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Journal of Medical Genetics|June 19, 2015
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acidChristoph Freyer, Henrik Stranneheim, Karin Naess, et al.
BMC Genomics|December 16, 2014
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolismHenrik Stranneheim, Martin Engvall, Karin Naess, et al.
Nature Communications|September 30, 2022
ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processingPaula Clemente, Javier Calvo-Garrido, Sarah F Pearce, et al.
The EMBO Journal|November 3, 2011
LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAsBenedetta Ruzzenente, Metodi D Metodiev, Anna Wredenberg, et al.
Orphanet Journal of Rare Diseases|April 22, 2017
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse modelSaara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, et al.
Human Molecular Genetics|September 17, 2015
Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathyCharlotte Gineste, Andres Hernandez, Niklas Ivarsson, et al.
NPJ Parkinson'S Disease|April 29, 2024
PARKIN is not required to sustain OXPHOS function in adult mammalian tissuesRoberta Filograna, Jule Gerlach, Hae-Na Choi, et al.
Human Molecular Genetics|January 13, 2022
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial diseaseFlorian A Rosenberger, Jia Xin Tang, Kate Sergeant, et al.
Plos Genetics|January 10, 2013
MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammalsAnna Wredenberg, Marie Lagouge, Ana Bratic, et al.
Human Molecular Genetics|June 3, 2026
MRPS22 variants alter mitochondrial ribosome assembly in patients with leukodystrophy, movement disorder and intellectual impairmentRuth I C Glasgow, Finn Lennartsson, Snjolaug Arnardottir, et al.
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