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Eric A Shoubridge

Showing results (51-60 of 99) with videos related to

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Human Molecular Genetics|July 2, 2004
Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidaseScot C Leary, Brett A Kaufman, Giovanna Pellecchia, et al.
The Journal of Biological Chemistry|March 8, 2006
The P174L mutation in human Sco1 severely compromises Cox17-dependent metallation but does not impair copper bindingPaul A Cobine, Fabien Pierrel, Scot C Leary, et al.
Molecular Genetics and Metabolism|January 27, 2005
Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genesRoberto Anitori, Kara Manning, Franklin Quan, et al.
Journal of Medical Genetics|January 22, 2015
Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short statureElsebet Ostergaard, Woranontee Weraarpachai, Kirstine Ravn, et al.
Molecular Human Reproduction|September 13, 2003
Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseasesNicola L Dean, Brendan J Battersby, Asangla Ao, et al.
Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'Obstetrique Et Gynecologie Du Canada : JOGC|July 23, 2017
Mitochondrial Replacement Therapy: The Road to the Clinic in CanadaBartha Maria Knoppers, Arthur Leader, Stacey Hume, et al.
Molecular Genetics and Metabolism|December 29, 2012
Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolismWayne Mah, Justin C Deme, David Watkins, et al.
The Journal of Biological Chemistry|August 28, 2003
Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiencyHana Antonicka, Isla Ogilvie, Tanja Taivassalo, et al.
Nucleic Acids Research|July 10, 2025
FASTKD5 processes mitochondrial pre-mRNAs at noncanonical cleavage sitesHana Antonicka, Ana Vučković, Woranontee Weraarpachai, et al.
Pediatrics|April 4, 2007
Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseasesFrançois-Guillaume Debray, Marie Lambert, Isabelle Chevalier, et al.
Pageof 10

Showing results (51-60 of 99) with videos related to

Sort By:
Pageof 10
Human Molecular Genetics|July 2, 2004
Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidaseScot C Leary, Brett A Kaufman, Giovanna Pellecchia, et al.
The Journal of Biological Chemistry|March 8, 2006
The P174L mutation in human Sco1 severely compromises Cox17-dependent metallation but does not impair copper bindingPaul A Cobine, Fabien Pierrel, Scot C Leary, et al.
Molecular Genetics and Metabolism|January 27, 2005
Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genesRoberto Anitori, Kara Manning, Franklin Quan, et al.
Journal of Medical Genetics|January 22, 2015
Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short statureElsebet Ostergaard, Woranontee Weraarpachai, Kirstine Ravn, et al.
Molecular Human Reproduction|September 13, 2003
Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseasesNicola L Dean, Brendan J Battersby, Asangla Ao, et al.
Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'Obstetrique Et Gynecologie Du Canada : JOGC|July 23, 2017
Mitochondrial Replacement Therapy: The Road to the Clinic in CanadaBartha Maria Knoppers, Arthur Leader, Stacey Hume, et al.
Molecular Genetics and Metabolism|December 29, 2012
Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolismWayne Mah, Justin C Deme, David Watkins, et al.
The Journal of Biological Chemistry|August 28, 2003
Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiencyHana Antonicka, Isla Ogilvie, Tanja Taivassalo, et al.
Nucleic Acids Research|July 10, 2025
FASTKD5 processes mitochondrial pre-mRNAs at noncanonical cleavage sitesHana Antonicka, Ana Vučković, Woranontee Weraarpachai, et al.
Pediatrics|April 4, 2007
Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseasesFrançois-Guillaume Debray, Marie Lambert, Isabelle Chevalier, et al.
Pageof 10