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Luke E Formosa

Showing results (11-20 of 33) with videos related to

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Clinical Genetics|May 10, 2020
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiencyYukiko Yatsuka, Yoshihito Kishita, Luke E Formosa, et al.
Neurobiology of Disease|April 27, 2021
Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorderNicole J Van Bergen, Sean Massey, Tegan Stait, et al.
Molecular & Cellular Proteomics : MCP|November 1, 2019
The Mitochondrial Acyl-carrier Protein Interaction Network Highlights Important Roles for LYRM Family Members in Complex I and Mitoribosome AssemblyMarris G Dibley, Luke E Formosa, Baobei Lyu, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|June 7, 2024
Loss of endogenous estrogen alters mitochondrial metabolism and muscle clock-related protein Rbm20 in female mdx miceCara A Timpani, Didier Debrincat, Stephanie Kourakis, et al.
Cell Reports|April 23, 2020
Dissecting the Roles of Mitochondrial Complex I Intermediate Assembly Complex Factors in the Biogenesis of Complex ILuke E Formosa, Linden Muellner-Wong, Boris Reljic, et al.
Plos One|July 30, 2015
A Role for the Mitochondrial Protein Mrpl44 in Maintaining OXPHOS CapacityJanet H C Yeo, Jarrod P J Skinner, Matthew J Bird, et al.
Biochimica Et Biophysica Acta. Bioenergetics|March 17, 2021
SILAC-based complexome profiling dissects the structural organization of the human respiratory supercomplexes in SCAFI<sup>KO</sup> cellsErika Fernández-Vizarra, Sandra López-Calcerrada, Luke E Formosa, et al.
Human Mutation|April 14, 2019
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variantNicole J Lake, Luke E Formosa, David A Stroud, et al.
Nature|September 15, 2016
Accessory subunits are integral for assembly and function of human mitochondrial complex IDavid A Stroud, Elliot E Surgenor, Luke E Formosa, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 25, 2022
Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 moduleThomas D Jackson, Jordan J Crameri, Linden Muellner-Wong, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
Clinical Genetics|May 10, 2020
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiencyYukiko Yatsuka, Yoshihito Kishita, Luke E Formosa, et al.
Neurobiology of Disease|April 27, 2021
Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorderNicole J Van Bergen, Sean Massey, Tegan Stait, et al.
Molecular & Cellular Proteomics : MCP|November 1, 2019
The Mitochondrial Acyl-carrier Protein Interaction Network Highlights Important Roles for LYRM Family Members in Complex I and Mitoribosome AssemblyMarris G Dibley, Luke E Formosa, Baobei Lyu, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|June 7, 2024
Loss of endogenous estrogen alters mitochondrial metabolism and muscle clock-related protein Rbm20 in female mdx miceCara A Timpani, Didier Debrincat, Stephanie Kourakis, et al.
Cell Reports|April 23, 2020
Dissecting the Roles of Mitochondrial Complex I Intermediate Assembly Complex Factors in the Biogenesis of Complex ILuke E Formosa, Linden Muellner-Wong, Boris Reljic, et al.
Plos One|July 30, 2015
A Role for the Mitochondrial Protein Mrpl44 in Maintaining OXPHOS CapacityJanet H C Yeo, Jarrod P J Skinner, Matthew J Bird, et al.
Biochimica Et Biophysica Acta. Bioenergetics|March 17, 2021
SILAC-based complexome profiling dissects the structural organization of the human respiratory supercomplexes in SCAFI<sup>KO</sup> cellsErika Fernández-Vizarra, Sandra López-Calcerrada, Luke E Formosa, et al.
Human Mutation|April 14, 2019
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variantNicole J Lake, Luke E Formosa, David A Stroud, et al.
Nature|September 15, 2016
Accessory subunits are integral for assembly and function of human mitochondrial complex IDavid A Stroud, Elliot E Surgenor, Luke E Formosa, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 25, 2022
Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 moduleThomas D Jackson, Jordan J Crameri, Linden Muellner-Wong, et al.
Pageof 4