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NPJ Genomic Medicine
|
March 31, 2025
Review: Utility of mass spectrometry in rare disease research and diagnosis
Teresa Zhao, Daniella H Hock, James Pitt, et al.
Life Science Alliance
|
September 14, 2019
Structural and functional characterization of the mitochondrial complex IV assembly factor Coa6
Shadi Maghool, N Dinesha G Cooray, David A Stroud, et al.
Journal of Cell Science
|
April 15, 2016
Cooperative and independent roles of the Drp1 adaptors Mff, MiD49 and MiD51 in mitochondrial fission
Laura D Osellame, Abeer P Singh, David A Stroud, et al.
Scientific Reports
|
January 11, 2018
Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function
Sze Chern Lim, Makiko Tajika, Masaru Shimura, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 21, 2021
Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I
Luke E Formosa, Boris Reljic, Alice J Sharpe, et al.
Human Molecular Genetics
|
February 14, 2015
Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I
Luke E Formosa, Masakazu Mimaki, Ann E Frazier, et al.
Human Mutation
|
June 11, 2025
<i>CHD8</i> Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum
Elaine Zhang, Teresa Zhao, Tim Sikora, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 25, 2022
Mitochondrial COA7 is a heme-binding protein with disulfide reductase activity, which acts in the early stages of complex IV assembly
Luke E Formosa, Shadi Maghool, Alice J Sharpe, et al.
American Journal of Medical Genetics. Part A
|
October 22, 2025
Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome
Teresa Zhao, Kirsten Allan, Juliet Taylor, et al.
Journal of Molecular Biology
|
September 28, 2011
Composition and topology of the endoplasmic reticulum-mitochondria encounter structure
David A Stroud, Silke Oeljeklaus, Sebastian Wiese, et al.
Page
of 11
Search research articles
Search
Showing results (21-30 of 108) with videos related to
Sort By:
Page
of 11
NPJ Genomic Medicine
|
March 31, 2025
Review: Utility of mass spectrometry in rare disease research and diagnosis
Teresa Zhao, Daniella H Hock, James Pitt, et al.
Life Science Alliance
|
September 14, 2019
Structural and functional characterization of the mitochondrial complex IV assembly factor Coa6
Shadi Maghool, N Dinesha G Cooray, David A Stroud, et al.
Journal of Cell Science
|
April 15, 2016
Cooperative and independent roles of the Drp1 adaptors Mff, MiD49 and MiD51 in mitochondrial fission
Laura D Osellame, Abeer P Singh, David A Stroud, et al.
Scientific Reports
|
January 11, 2018
Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function
Sze Chern Lim, Makiko Tajika, Masaru Shimura, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 21, 2021
Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I
Luke E Formosa, Boris Reljic, Alice J Sharpe, et al.
Human Molecular Genetics
|
February 14, 2015
Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I
Luke E Formosa, Masakazu Mimaki, Ann E Frazier, et al.
Human Mutation
|
June 11, 2025
<i>CHD8</i> Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum
Elaine Zhang, Teresa Zhao, Tim Sikora, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 25, 2022
Mitochondrial COA7 is a heme-binding protein with disulfide reductase activity, which acts in the early stages of complex IV assembly
Luke E Formosa, Shadi Maghool, Alice J Sharpe, et al.
American Journal of Medical Genetics. Part A
|
October 22, 2025
Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome
Teresa Zhao, Kirsten Allan, Juliet Taylor, et al.
Journal of Molecular Biology
|
September 28, 2011
Composition and topology of the endoplasmic reticulum-mitochondria encounter structure
David A Stroud, Silke Oeljeklaus, Sebastian Wiese, et al.
Page
of 11