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Eric A Shoubridge

Showing results (21-30 of 99) with videos related to

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Human Molecular Genetics|March 22, 2021
Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responsesIsabella R Straub, Woranontee Weraarpachai, Eric A Shoubridge
The Journal of Clinical Investigation|October 4, 2005
A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathyIsla Ogilvie, Nancy G Kennaway, Eric A Shoubridge
Life Science Alliance|March 28, 2023
The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusionJana Schuettpelz, Alexandre Janer, Hana Antonicka, et al.
Human Molecular Genetics|September 6, 2011
The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translationFlorin Sasarman, Hana Antonicka, Rita Horvath, et al.
Human Mutation|April 17, 2012
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemiaFlorin Sasarman, Tamiko Nishimura, Isabelle Thiffault, et al.
Molecular Biology of the Cell|November 23, 2012
The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translationStephen Fung, Tamiko Nishimura, Florin Sasarman, et al.
Human Molecular Genetics|July 29, 2005
Mitochondrial DNA segregation in hematopoietic lineages does not depend on MHC presentation of mitochondrially encoded peptidesBrendan J Battersby, Margaret E Redpath, Eric A Shoubridge
Molecular and Cellular Biology|May 25, 2016
A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and IIOlga Zurita Rendón, Hana Antonicka, Rita Horvath, et al.
Nature Genetics|January 23, 2003
Nuclear genetic control of mitochondrial DNA segregationBrendan J Battersby, J C Loredo-Osti, Eric A Shoubridge
Human Molecular Genetics|April 25, 2006
The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1Hana Antonicka, Florin Sasarman, Nancy G Kennaway, et al.
Pageof 10

Showing results (21-30 of 99) with videos related to

Sort By:
Pageof 10
Human Molecular Genetics|March 22, 2021
Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responsesIsabella R Straub, Woranontee Weraarpachai, Eric A Shoubridge
The Journal of Clinical Investigation|October 4, 2005
A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathyIsla Ogilvie, Nancy G Kennaway, Eric A Shoubridge
Life Science Alliance|March 28, 2023
The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusionJana Schuettpelz, Alexandre Janer, Hana Antonicka, et al.
Human Molecular Genetics|September 6, 2011
The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translationFlorin Sasarman, Hana Antonicka, Rita Horvath, et al.
Human Mutation|April 17, 2012
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemiaFlorin Sasarman, Tamiko Nishimura, Isabelle Thiffault, et al.
Molecular Biology of the Cell|November 23, 2012
The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translationStephen Fung, Tamiko Nishimura, Florin Sasarman, et al.
Human Molecular Genetics|July 29, 2005
Mitochondrial DNA segregation in hematopoietic lineages does not depend on MHC presentation of mitochondrially encoded peptidesBrendan J Battersby, Margaret E Redpath, Eric A Shoubridge
Molecular and Cellular Biology|May 25, 2016
A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and IIOlga Zurita Rendón, Hana Antonicka, Rita Horvath, et al.
Nature Genetics|January 23, 2003
Nuclear genetic control of mitochondrial DNA segregationBrendan J Battersby, J C Loredo-Osti, Eric A Shoubridge
Human Molecular Genetics|April 25, 2006
The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1Hana Antonicka, Florin Sasarman, Nancy G Kennaway, et al.
Pageof 10