Romina Durigon
Mill Hill
London, ENG, United Kingdom
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 9 publications
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Journal: American journal of human genetics
Published: March 27, 2022
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Journal: American journal of human genetics
Published: September 02, 2019
LETM1 couples mitochondrial DNA metabolism and nutrient preference.
Journal: EMBO molecular medicine
Published: July 18, 2018
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Journal: Brain : a journal of neurology
Published: October 14, 2016
Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: July 13, 2016
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.
Journal: PLoS genetics
Published: May 30, 2015
MPV17L2 is required for ribosome assembly in mitochondria.
Journal: Nucleic acids research
Published: June 21, 2014
Amino acid starvation has opposite effects on mitochondrial and cytosolic protein synthesis.
Journal: PloS one
Published: July 01, 2013
Cytosolic thioredoxin system facilitates the import of mitochondrial small Tim proteins.
Journal: EMBO reports
Published: January 28, 2012
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Last Updated: 09/26/2026