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Metodi D Metodiev

Showing results (1-10 of 29) with videos related to

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Methods in Molecular Biology (Clifton, N.J.)|February 19, 2021
Linear Density Sucrose Gradients to Study Mitoribosomal Biogenesis in Tissue-Specific Knockout MiceBenedetta Ruzzenente, Metodi D Metodiev
Human Molecular Genetics|June 23, 2016
Mouse models for mitochondrial diseasesBenedetta Ruzzenente, Agnès Rötig, Metodi D Metodiev
Molecular and Cellular Biology|November 15, 2006
Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegiaMirko Koppen, Metodi D Metodiev, Giorgio Casari, et al.
Human Molecular Genetics|December 20, 2018
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvementJuliette Pulman, Benedetta Ruzzenente, Lucas Bianchi, et al.
Molecular Genetics and Metabolism|October 8, 2021
Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cellsJuliette Pulman, Benedetta Ruzzenente, Martin Horak, et al.
Human Mutation|September 26, 2018
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosisBenedetta Ruzzenente, Zahra Assouline, Giulia Barcia, et al.
European Journal of Human Genetics : EJHG|September 18, 2014
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthoodMetodi D Metodiev, Zahra Assouline, Pierre Landrieu, et al.
Cell Metabolism|April 10, 2009
Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosomeMetodi D Metodiev, Nicole Lesko, Chan Bae Park, et al.
Molecular Genetics and Metabolism Reports|July 2, 2026
Functional characterization of a biallelic <i>MIPEP</i> variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotoniaBenedetta Ruzzenente, Pierre-Hadrien Becker, Elissa Afram, et al.
Human Molecular Genetics|October 15, 2015
Overexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status or hearingSeungmin Lee, Simon Rose, Metodi D Metodiev, et al.
Pageof 3

Showing results (1-10 of 29) with videos related to

Sort By:
Pageof 3
Methods in Molecular Biology (Clifton, N.J.)|February 19, 2021
Linear Density Sucrose Gradients to Study Mitoribosomal Biogenesis in Tissue-Specific Knockout MiceBenedetta Ruzzenente, Metodi D Metodiev
Human Molecular Genetics|June 23, 2016
Mouse models for mitochondrial diseasesBenedetta Ruzzenente, Agnès Rötig, Metodi D Metodiev
Molecular and Cellular Biology|November 15, 2006
Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegiaMirko Koppen, Metodi D Metodiev, Giorgio Casari, et al.
Human Molecular Genetics|December 20, 2018
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvementJuliette Pulman, Benedetta Ruzzenente, Lucas Bianchi, et al.
Molecular Genetics and Metabolism|October 8, 2021
Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cellsJuliette Pulman, Benedetta Ruzzenente, Martin Horak, et al.
Human Mutation|September 26, 2018
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosisBenedetta Ruzzenente, Zahra Assouline, Giulia Barcia, et al.
European Journal of Human Genetics : EJHG|September 18, 2014
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthoodMetodi D Metodiev, Zahra Assouline, Pierre Landrieu, et al.
Cell Metabolism|April 10, 2009
Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosomeMetodi D Metodiev, Nicole Lesko, Chan Bae Park, et al.
Molecular Genetics and Metabolism Reports|July 2, 2026
Functional characterization of a biallelic <i>MIPEP</i> variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotoniaBenedetta Ruzzenente, Pierre-Hadrien Becker, Elissa Afram, et al.
Human Molecular Genetics|October 15, 2015
Overexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status or hearingSeungmin Lee, Simon Rose, Metodi D Metodiev, et al.
Pageof 3