Publications by authors named "Romina Durigon"

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Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Rauan Kaiyrzhanov, Sami E M Mohammed, Reza Maroofian, Ralf A Husain, Alessia Catania, Romina Durigon

Am J Hum Genet· September 2022

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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Adam C Gunning, Klaudia Strucinska, Mikel Muñoz Oreja, Andrew Parrish, Richard Caswell, Romina Durigon

Am J Hum Genet· February 2020

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LETM1 couples mitochondrial DNA metabolism and nutrient preference.
Romina Durigon, Alice L Mitchell, Aleck We Jones, Andreea Manole, Mara Mennuni

EMBO Mol Med· September 2018

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ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones

Brain· June 2017

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Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria.
Gokhan Akman, Radha Desai, Laura J Bailey, Takehiro Yasukawa, Ilaria Dalla Rosa, Romina Durigon

Proc Natl Acad Sci U S A· July 2016

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MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.
Ilaria Dalla Rosa, Yolanda Cámara, Romina Durigon, Chloe F Moss, Sara Vidoni

PLoS Genet· January 2016

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Amino acid starvation has opposite effects on mitochondrial and cytosolic protein synthesis.
Mark A Johnson, Sara Vidoni, Romina Durigon, Sarah F Pearce, Joanna Rorbach

PLoS One· January 2015

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MPV17L2 is required for ribosome assembly in mitochondria.
Ilaria Dalla Rosa, Romina Durigon, Sarah F Pearce, Joanna Rorbach, Elizabeth M A Hirst

Nucleic Acids Res· July 2014

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Cytosolic thioredoxin system facilitates the import of mitochondrial small Tim proteins.
Romina Durigon, Qi Wang, Efrain Ceh Pavia, Chris M Grant, Hui Lu

EMBO Rep· October 2012

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