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Brett H Graham

Showing results (71-80 of 92) with videos related to

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Cell Metabolism|February 6, 2007
Ménage-à-trois 1 is critical for the transcriptional function of PPARgamma coactivator 1Motoaki Sano, Yasukatsu Izumi, Katja Helenius, et al.
Mitochondrion|January 9, 2018
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6Austin A Larson, Shanti Balasubramaniam, John Christodoulou, et al.
Human Mutation|August 13, 2015
Expanding the Molecular and Clinical Phenotype of SSR4-CDGBobby G Ng, Kimiyo Raymond, Martin Kircher, et al.
Plos Biology|March 27, 2012
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humansVafa Bayat, Isabelle Thiffault, Manish Jaiswal, et al.
American Journal of Human Genetics|December 19, 2020
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidismChunmei Li, Eliane Beauregard-Lacroix, Christine Kondratev, et al.
American Journal of Human Genetics|September 3, 2013
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenancePenelope E Bonnen, John W Yarham, Arnaud Besse, et al.
Cell Reports|March 1, 2016
Fatty Acid Oxidation-Driven Src Links Mitochondrial Energy Reprogramming and Oncogenic Properties in Triple-Negative Breast CancerJun Hyoung Park, Sajna Vithayathil, Santosh Kumar, et al.
Neuron|December 27, 2016
Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and NeurodegenerationWan Hee Yoon, Hector Sandoval, Sonal Nagarkar-Jaiswal, et al.
Journal of Medical Genetics|February 25, 2016
Clinical course of sly syndrome (mucopolysaccharidosis type VII)Adriana M Montaño, Ngu Lock-Hock, Robert D Steiner, et al.
Human Mutation|June 27, 2017
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disabilityRonit Marom, Mahim Jain, Lindsay C Burrage, et al.
Pageof 10

Showing results (71-80 of 92) with videos related to

Sort By:
Pageof 10
Cell Metabolism|February 6, 2007
Ménage-à-trois 1 is critical for the transcriptional function of PPARgamma coactivator 1Motoaki Sano, Yasukatsu Izumi, Katja Helenius, et al.
Mitochondrion|January 9, 2018
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6Austin A Larson, Shanti Balasubramaniam, John Christodoulou, et al.
Human Mutation|August 13, 2015
Expanding the Molecular and Clinical Phenotype of SSR4-CDGBobby G Ng, Kimiyo Raymond, Martin Kircher, et al.
Plos Biology|March 27, 2012
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humansVafa Bayat, Isabelle Thiffault, Manish Jaiswal, et al.
American Journal of Human Genetics|December 19, 2020
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidismChunmei Li, Eliane Beauregard-Lacroix, Christine Kondratev, et al.
American Journal of Human Genetics|September 3, 2013
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenancePenelope E Bonnen, John W Yarham, Arnaud Besse, et al.
Cell Reports|March 1, 2016
Fatty Acid Oxidation-Driven Src Links Mitochondrial Energy Reprogramming and Oncogenic Properties in Triple-Negative Breast CancerJun Hyoung Park, Sajna Vithayathil, Santosh Kumar, et al.
Neuron|December 27, 2016
Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and NeurodegenerationWan Hee Yoon, Hector Sandoval, Sonal Nagarkar-Jaiswal, et al.
Journal of Medical Genetics|February 25, 2016
Clinical course of sly syndrome (mucopolysaccharidosis type VII)Adriana M Montaño, Ngu Lock-Hock, Robert D Steiner, et al.
Human Mutation|June 27, 2017
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disabilityRonit Marom, Mahim Jain, Lindsay C Burrage, et al.
Pageof 10