List of works - Benedetta Ruzzenente

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

scientific article published on 19 March 2018

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

scientific article published on 03 November 2019

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

scientific article published on 22 January 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 acidosis

scientific article published on 03 October 2018

LRPPRC is a mitochondrial matrix protein that is conserved in metazoans

scientific article published on 13 July 2010

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

scientific article

LRPPRC-mediated folding of the mitochondrial transcriptome

scientific article published on 16 November 2017

Loss of LRPPRC causes ATP synthase deficiency

scientific article published on 6 January 2014

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

scientific journal article

MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals

scientific article

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

scientific article

Mitochondrial fusion is required for regulation of mitochondrial DNA replication

scientific article published on 06 June 2019

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

scientific article published on 01 May 2019

NSUN4 is a dual function mitochondrial protein required for both methylation of 12S rRNA and coordination of mitoribosomal assembly

scientific article

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

scientific article published on 09 November 2020

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

scientific article published on 7 February 2013

The bicoid stability factor controls polyadenylation and expression of specific mitochondrial mRNAs in Drosophila melanogaster

scientific article

The leucine-rich pentatricopeptide repeat-containing protein (LRPPRC) does not activate transcription in mammalian mitochondria

scientific article published on 18 April 2013

The respiratory chain supercomplex organization is independent of COX7a2l isoforms

scientific article

List of works by Benedetta Ruzzenente

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

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

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

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

LRPPRC is a mitochondrial matrix protein that is conserved in metazoans

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

LRPPRC-mediated folding of the mitochondrial transcriptome

Loss of LRPPRC causes ATP synthase deficiency

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

MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals

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

Mitochondrial fusion is required for regulation of mitochondrial DNA replication

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

NSUN4 is a dual function mitochondrial protein required for both methylation of 12S rRNA and coordination of mitoribosomal assembly

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

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

The bicoid stability factor controls polyadenylation and expression of specific mitochondrial mRNAs in Drosophila melanogaster

The leucine-rich pentatricopeptide repeat-containing protein (LRPPRC) does not activate transcription in mammalian mitochondria

The respiratory chain supercomplex organization is independent of COX7a2l isoforms