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Eric A Shoubridge

Showing results (61-70 of 99) with videos related to

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American Journal of Human Genetics|October 2, 2012
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defectAlexandre Janer, Hana Antonicka, Emilie Lalonde, et al.
American Journal of Human Genetics|December 11, 2002
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathyHana Antonicka, Andre Mattman, Christopher G Carlson, et al.
The Journal of Biological Chemistry|August 11, 2005
Human Sco1 and Sco2 function as copper-binding proteinsYih-Chern Horng, Scot C Leary, Paul A Cobine, et al.
American Journal of Human Genetics|September 28, 2011
Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymesJessie M Cameron, Alexandre Janer, Valeriy Levandovskiy, et al.
Nature Communications|September 29, 2018
RNA modification landscape of the human mitochondrial tRNA<sup>Lys</sup> regulates protein synthesisUwe Richter, Molly E Evans, Wesley C Clark, et al.
Developmental Neurobiology|February 17, 2023
Loss of mitochondrial Chchd10 or Chchd2 in zebrafish leads to an ALS-like phenotype and Complex I deficiency independent of the mitochondrial integrated stress responseVirginie Petel Légaré, Christian J Rampal, Tyler J N Gurberg, et al.
Human Molecular Genetics|August 21, 2003
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiencyHana Antonicka, Scot C Leary, Guy-Hellen Guercin, et al.
Plos Genetics|October 27, 2010
Gimap3 regulates tissue-specific mitochondrial DNA segregationRiikka Jokinen, Paula Marttinen, Helen Katarin Sandell, et al.
Brain : a Journal of Neurology|December 15, 2015
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCAKarine Choquet, Olga Zurita-Rendón, Roberta La Piana, et al.
Cell|December 25, 2012
MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulationDavid U Mick, Sven Dennerlein, Heike Wiese, et al.
Pageof 10

Showing results (61-70 of 99) with videos related to

Sort By:
Pageof 10
American Journal of Human Genetics|October 2, 2012
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defectAlexandre Janer, Hana Antonicka, Emilie Lalonde, et al.
American Journal of Human Genetics|December 11, 2002
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathyHana Antonicka, Andre Mattman, Christopher G Carlson, et al.
The Journal of Biological Chemistry|August 11, 2005
Human Sco1 and Sco2 function as copper-binding proteinsYih-Chern Horng, Scot C Leary, Paul A Cobine, et al.
American Journal of Human Genetics|September 28, 2011
Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymesJessie M Cameron, Alexandre Janer, Valeriy Levandovskiy, et al.
Nature Communications|September 29, 2018
RNA modification landscape of the human mitochondrial tRNA<sup>Lys</sup> regulates protein synthesisUwe Richter, Molly E Evans, Wesley C Clark, et al.
Developmental Neurobiology|February 17, 2023
Loss of mitochondrial Chchd10 or Chchd2 in zebrafish leads to an ALS-like phenotype and Complex I deficiency independent of the mitochondrial integrated stress responseVirginie Petel Légaré, Christian J Rampal, Tyler J N Gurberg, et al.
Human Molecular Genetics|August 21, 2003
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiencyHana Antonicka, Scot C Leary, Guy-Hellen Guercin, et al.
Plos Genetics|October 27, 2010
Gimap3 regulates tissue-specific mitochondrial DNA segregationRiikka Jokinen, Paula Marttinen, Helen Katarin Sandell, et al.
Brain : a Journal of Neurology|December 15, 2015
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCAKarine Choquet, Olga Zurita-Rendón, Roberta La Piana, et al.
Cell|December 25, 2012
MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulationDavid U Mick, Sven Dennerlein, Heike Wiese, et al.
Pageof 10