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Brage S Andresen

Showing results (1-10 of 54) with videos related to

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European Journal of Biochemistry|January 20, 2004
Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationshipsNiels Gregersen, Peter Bross, Brage S Andresen
Molecular Genetics and Metabolism|June 2, 2016
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in VictoriaMaureen Evans, Brage S Andresen, Judy Nation, et al.
The FEBS Journal|September 1, 2005
Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD). K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive proteinLinda P O'Reilly, Brage S Andresen, Paul C Engel
Human Mutation|November 27, 2021
Pseudoexon activation in disease by non-splice site deep intronic sequence variation - wild type pseudoexons constitute high-risk sites in the human genomeUlrika S S Petersen, Thomas K Doktor, Brage S Andresen
Molecular Genetics and Metabolism|December 3, 2014
Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screeningAmy Brown, Louise Crowe, Brage S Andresen, et al.
Molecular Genetics and Metabolism|May 12, 2010
The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencerSteven F Dobrowolski, Henriette S Andersen, Thomas K Doktor, et al.
Cellular and Molecular Life Sciences : CMLS|June 6, 2022
Essential role of CK2α for the interaction and stability of replication fork factors during DNA synthesis and activation of the S-phase checkpointBarbara Guerra, Thomas K Doktor, Sabrina B Frederiksen, et al.
Plos Genetics|April 24, 2018
Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice siteAinhoa Martínez-Pizarro, Maja Dembic, Belén Pérez, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology|November 20, 2020
Down-Regulation of CK2α Leads toUp-Regulation of the Cyclin-Dependent Kinase Inhibitor p27<sup>KIP1</sup> in Conditions Unfavorable for the Growth of Myoblast CellsBarbara Guerra, Maja Dembic, Mohammad A Siddiqui, et al.
Molecular Genetics and Metabolism|June 3, 2004
Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic statusStanley H Korman, Alisa Gutman, Rivka Brooks, et al.
Pageof 6

Showing results (1-10 of 54) with videos related to

Sort By:
Pageof 6
European Journal of Biochemistry|January 20, 2004
Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationshipsNiels Gregersen, Peter Bross, Brage S Andresen
Molecular Genetics and Metabolism|June 2, 2016
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in VictoriaMaureen Evans, Brage S Andresen, Judy Nation, et al.
The FEBS Journal|September 1, 2005
Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD). K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive proteinLinda P O'Reilly, Brage S Andresen, Paul C Engel
Human Mutation|November 27, 2021
Pseudoexon activation in disease by non-splice site deep intronic sequence variation - wild type pseudoexons constitute high-risk sites in the human genomeUlrika S S Petersen, Thomas K Doktor, Brage S Andresen
Molecular Genetics and Metabolism|December 3, 2014
Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screeningAmy Brown, Louise Crowe, Brage S Andresen, et al.
Molecular Genetics and Metabolism|May 12, 2010
The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencerSteven F Dobrowolski, Henriette S Andersen, Thomas K Doktor, et al.
Cellular and Molecular Life Sciences : CMLS|June 6, 2022
Essential role of CK2α for the interaction and stability of replication fork factors during DNA synthesis and activation of the S-phase checkpointBarbara Guerra, Thomas K Doktor, Sabrina B Frederiksen, et al.
Plos Genetics|April 24, 2018
Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice siteAinhoa Martínez-Pizarro, Maja Dembic, Belén Pérez, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology|November 20, 2020
Down-Regulation of CK2α Leads toUp-Regulation of the Cyclin-Dependent Kinase Inhibitor p27<sup>KIP1</sup> in Conditions Unfavorable for the Growth of Myoblast CellsBarbara Guerra, Maja Dembic, Mohammad A Siddiqui, et al.
Molecular Genetics and Metabolism|June 3, 2004
Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic statusStanley H Korman, Alisa Gutman, Rivka Brooks, et al.
Pageof 6