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Enrico Baruffini

University of Parma

60

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1698

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Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.

2021 International Journal of Molecular Sciences
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In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.

2021 Human Genetics
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A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool

2021 International Journal of Molecular Sciences
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Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.

2021 Human Mutation
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Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish.

2021 Cell Death and Disease
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Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease.

2020 Biochimica et Biophysica Acta
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How to easily detect plant NADH-glutamate dehydrogenase (GDH) activity? A simple and reliable in planta procedure suitable for tissues, extracts and heterologous microbial systems

2020 Plant Science
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Mechanistic insights on the mode of action of an antiproliferative thiosemicarbazone-nickel complex revealed by an integrated chemogenomic profiling study

2020 Scientific Reports
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Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.

2020 Journal of Medical Genetics
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Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations.

2020 Human Molecular Genetics
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