Benedetta Ruzzenente

发表

Mouse models for mitochondrial diseases.

A. Rötig, Metodi D. Metodiev, Benedetta Ruzzenente, 2016, Human molecular genetics.

Linear Density Sucrose Gradients to Study Mitoribosomal Biogenesis in Tissue-Specific Knockout Mice.

Metodi D. Metodiev, Benedetta Ruzzenente, 2021, Methods in molecular biology.

The Leucine-rich Pentatricopeptide Repeat-containing Protein (LRPPRC) Does Not Activate Transcription in Mammalian Mitochondria*

M. Falkenberg, N. Larsson, Benedetta Ruzzenente, 2013, The Journal of Biological Chemistry.

The Bicoid Stability Factor Controls Polyadenylation and Expression of Specific Mitochondrial mRNAs in Drosophila melanogaster

L. Partridge, B. Habermann, Sebastian Grönke, 2011, PLoS genetics.

MTERF1 binds mtDNA to prevent transcriptional interference at the light-strand promoter but is dispensable for rRNA gene transcription regulation.

Marcela Dávila López, B. Habermann, C. Gustafsson, 2013, Cell metabolism.

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency

A. Munnich, N. Boddaert, A. Rötig, 2018, Journal of Medical Genetics.

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication

M. Falkenberg, Dusanka Milenkovic, N. Larsson, 2013, Human molecular genetics.

LRPPRC-mediated folding of the mitochondrial transcriptome

Stefan J. Siira, N. Larsson, O. Rackham, 2017, Nature Communications.

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 cells.

A. Munnich, N. Boddaert, A. Rötig, 2021, Molecular genetics and metabolism.

loop strands and complete mtDNA replication

M. Falkenberg, Dusanka Milenkovic, N. Larsson, 2013 .

The Respiratory Chain Supercomplex Organization Is Independent of COX7a2l Isoforms

Dusanka Milenkovic, N. Larsson, Benedetta Ruzzenente, 2014, Cell metabolism.

Loss of LRPPRC causes ATP synthase deficiency

W. Kühlbrandt, T. Brandt, N. Larsson, 2014, Human molecular genetics.

Structural basis for substrate specificity of the human mitochondrial deoxyribonucleotidase.

K. Walldén, P. Nordlund, V. Bianchi, 2005, Structure.

NSUN4 Is a Dual Function Mitochondrial Protein Required for Both Methylation of 12S rRNA and Coordination of Mitoribosomal Assembly

B. Habermann, J. Altmueller, N. Larsson, 2014, PLoS genetics.

MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome.

B. Habermann, H. Erdjument-Bromage, P. Tempst, 2011, Cell metabolism.

Mouse cytosolic and mitochondrial deoxyribonucleotidases: cDNA cloning of the mitochondrial enzyme, gene structures, chromosomal mapping and comparison with the human orthologs.

J. Dumanski, V. Bianchi, C. Rampazzo, 2002, Gene.

Mitochondrial fusion is required for regulation of mitochondrial DNA replication

B. Habermann, S. Jakobs, Assa Yeroslaviz, 2019, PLoS genetics.

POLRMT does not transcribe nuclear genes

M. Falkenberg, Dusanka Milenkovic, C. Kukat, 2014, Nature.

CLPP coordinates mitoribosomal assembly through the regulation of ERAL1 levels

R. Wiesner, M. Krüger, R. Wibom, 2016, The EMBO journal.

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement

A. Munnich, N. Boddaert, A. Rötig, 2018, Human molecular genetics.

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Alexander Hoischen, Arnold Munnich, Ron A Wevers, 2018, American journal of human genetics.

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

H. Erdjument-Bromage, P. Tempst, C. Gustafsson, 2012, The EMBO journal.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Sander M Houten, Eric E Schadt, Nathalie Boddaert, 2017, American journal of human genetics.

Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis

A. Munnich, N. Boddaert, A. Rötig, 2018, Human mutation.

Crystal structures of human and murine deoxyribonucleotidases: insights into recognition of substrates and nucleotide analogues.

K. Walldén, P. Nordlund, V. Bianchi, 2007, Biochemistry.

MTERF3 Regulates Mitochondrial Ribosome Biogenesis in Invertebrates and Mammals

L. Partridge, E. Kremmer, B. Habermann, 2013, PLoS genetics.

Biallelic IARS2 mutations presenting as sideroblastic anemia

A. Munnich, N. Boddaert, A. Rötig, 2020, Haematologica.

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.

Ulrich Brandt, Sergio Guerrero-Castillo, Benoît Funalot, 2016, American journal of human genetics.

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations

A. Munnich, N. Boddaert, A. Rötig, 2020, Human mutation.

LRPPRC is a mitochondrial matrix protein that is conserved in metazoans.

F. Sterky, T. Samuelsson, C. Gustafsson, 2010, Biochemical and biophysical research communications.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Marni J. Falk, V. Mootha, E. Schadt, 2018, American journal of human genetics.

Erratum: Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome (The American Journal of Human Genetics (2017) 101(2) (239–254) (S0002929717302835) (10.1016/j.ajhg.2017.07.005))

Eric E. Schadt, Nathalie Boddaert, Aleksandra Filipovska, 2018 .

MTERF1 binds mtDNA to prevent transcriptional interference at the light-strand promoter but is dispensable for rRNA gene transcription regulation.

Marcela Dávila López, B. Habermann, C. Gustafsson, 2013, Cell metabolism.

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.

R. Rodenburg, A. Rötig, B. Funalot, 2016, American journal of human genetics.

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

A. Munnich, N. Boddaert, A. Rötig, 2020, European Journal of Human Genetics.

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

A. Munnich, N. Boddaert, A. Rötig, 2020 .