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Eric A Shoubridge

Showing results (71-80 of 99) with videos related to

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Neurogenetics|January 7, 2017
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotypeRoberta La Piana, Woranontee Weraarpachai, Luis H Ospina, et al.
American Journal of Human Genetics|June 15, 2005
A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French CanadiansAnne-Marie Laberge, Michele Jomphe, Louis Houde, et al.
Molecular Genetics and Metabolism|June 13, 2006
A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathyScot C Leary, Andre Mattman, Timothy Wai, et al.
Life Science Alliance|November 6, 2023
ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasisAlexandre Janer, Jordan L Morris, Michiel Krols, et al.
Nature Genetics|June 9, 2009
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndromeWoranontee Weraarpachai, Hana Antonicka, Florin Sasarman, et al.
Molecular Biology of the Cell|January 25, 2013
COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper effluxScot C Leary, Paul A Cobine, Tamiko Nishimura, et al.
Human Molecular Genetics|April 26, 2015
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidaseReetta Hinttala, Florin Sasarman, Tamiko Nishimura, et al.
The Journal of Clinical Investigation|July 28, 2022
SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteinsMuseer A Lone, Mari J Aaltonen, Aliza Zidell, et al.
Human Mutation|June 29, 2016
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional ActivatorMihaela Pupavac, David Watkins, Francis Petrella, et al.
Cell Metabolism|December 26, 2006
The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasisScot C Leary, Paul A Cobine, Brett A Kaufman, et al.
Pageof 10

Showing results (71-80 of 99) with videos related to

Sort By:
Pageof 10
Neurogenetics|January 7, 2017
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotypeRoberta La Piana, Woranontee Weraarpachai, Luis H Ospina, et al.
American Journal of Human Genetics|June 15, 2005
A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French CanadiansAnne-Marie Laberge, Michele Jomphe, Louis Houde, et al.
Molecular Genetics and Metabolism|June 13, 2006
A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathyScot C Leary, Andre Mattman, Timothy Wai, et al.
Life Science Alliance|November 6, 2023
ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasisAlexandre Janer, Jordan L Morris, Michiel Krols, et al.
Nature Genetics|June 9, 2009
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndromeWoranontee Weraarpachai, Hana Antonicka, Florin Sasarman, et al.
Molecular Biology of the Cell|January 25, 2013
COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper effluxScot C Leary, Paul A Cobine, Tamiko Nishimura, et al.
Human Molecular Genetics|April 26, 2015
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidaseReetta Hinttala, Florin Sasarman, Tamiko Nishimura, et al.
The Journal of Clinical Investigation|July 28, 2022
SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteinsMuseer A Lone, Mari J Aaltonen, Aliza Zidell, et al.
Human Mutation|June 29, 2016
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional ActivatorMihaela Pupavac, David Watkins, Francis Petrella, et al.
Cell Metabolism|December 26, 2006
The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasisScot C Leary, Paul A Cobine, Brett A Kaufman, et al.
Pageof 10