Publications by authors named "Mara Doimo"

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Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience.
Vincenza Gragnaniello, Giacomo Gaiga, Chiara Cazzorla, Elena Porcù, Daniela Gueraldi, Mara Doimo

Int J Neonatal Screen· December 2025

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Model organisms in POLG-related disorders: insights from yeast to multicellular systems.
Raquel Brañas Casas, Giovanni Risato, Alessandro Zuppardo, Carlo Viscomi, Francesco Argenton, Mara Doimo

Cell Death Dis· December 2025

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A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA).
Vincenza Gragnaniello, Alfonso Galderisi, Sara Tucci, Mara Doimo, Marianna Caterino

JIMD Rep· November 2025

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Activating AMPK improves pathological phenotypes due to mtDNA depletion.
Gustavo Carvalho, Tran V H Nguyen, Bruno Repolês, Josefin M E Forslund, W M Ruchitha Rukmal Wijethunga, Mara Doimo

FEBS J· May 2025

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G4-Ligand-Conjugated Oligonucleotides Mediate Selective Binding and Stabilization of Individual G4 DNA Structures.
Andreas Berner, Rabindra Nath Das, Naresh Bhuma, Justyna Golebiewska, Alva Abrahamsson, Mara Doimo

J Am Chem Soc· March 2024

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Exploring the Dispersion and Electrostatic Components in Arene-Arene Interactions between Ligands and G4 DNA to Develop G4-Ligands.
Måns Andreasson, Maxime Donzel, Alva Abrahamsson, Andreas Berner, Mara Doimo

J Med Chem· February 2024

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Enhanced mitochondrial G-quadruplex formation impedes replication fork progression leading to mtDNA loss in human cells.
Mara Doimo, Namrata Chaudhari, Sanna Abrahamsson, Valentin L'Hôte, Tran V H Nguyen

Nucleic Acids Res· August 2023

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A complementary chemical probe approach towards customized studies of G-quadruplex DNA structures in live cells.
Bagineni Prasad, Mara Doimo, Måns Andréasson, Valentin L'Hôte, Erik Chorell

Chem Sci· February 2022

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A unique arginine cluster in PolDIP2 enhances nucleotide binding and DNA synthesis by PrimPol.
Kazutoshi Kasho, Gorazd Stojkovič, Cristina Velázquez-Ruiz, Maria Isabel Martínez-Jiménez, Mara Doimo

Nucleic Acids Res· February 2021

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Quinazoline Ligands Induce Cancer Cell Death through Selective STAT3 Inhibition and G-Quadruplex Stabilization.
Jan Jamroskovic, Mara Doimo, Karam Chand, Ikenna Obi, Rajendra Kumar

J Am Chem Soc· February 2020

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Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina.
Riccardo Montioli, Maria Andrea Desbats, Silvia Grottelli, Mara Doimo, Ilaria Bellezza

Biochim Biophys Acta Mol Basis Dis· November 2018

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A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL.
Ali Al-Behadili, Jay P Uhler, Anna-Karin Berglund, Bradley Peter, Mara Doimo

Nucleic Acids Res· October 2018

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COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2.
Cristina Cerqua, Valeria Morbidoni, Maria Andrea Desbats, Mara Doimo, Chiara Frasson

Biochim Biophys Acta Bioenerg· April 2018

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Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.
Luis Vazquez Fonseca, Mara Doimo, Cristina Calderan, Maria Andrea Desbats, Manuel J Acosta

Hum Mutat· March 2018

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Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi

Orphanet J Rare Dis· May 2017

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The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Maria Andrea Desbats, Valeria Morbidoni, Micol Silic-Benussi, Mara Doimo, Vincenzo Ciminale

Hum Mol Genet· October 2016

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Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.
Mara Doimo, Raffaele Lopreiato, Valentina Basso, Raissa Bortolotto, Alessandra Tessa

JIMD Rep· November 2015

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Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
Maria Andrea Desbats, Annalisa Vetro, Ivan Limongelli, Giada Lunardi, Alberto Casarin, Mara Doimo

Eur J Hum Genet· September 2015

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Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
Maria Andrea Desbats, Giada Lunardi, Mara Doimo, Eva Trevisson, Leonardo Salviati

J Inherit Metab Dis· January 2015

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Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis.
Theresa P T Nguyen, Alberto Casarin, Maria Andrea Desbats, Mara Doimo, Eva Trevisson

Biochim Biophys Acta· November 2014

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Genetics of coenzyme q10 deficiency.
Mara Doimo, Maria A Desbats, Cristina Cerqua, Matteo Cassina, Eva Trevisson

Mol Syndromol· July 2014

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Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.
Mara Doimo, Eva Trevisson, Rannar Airik, Marc Bergdoll, Carlos Santos-Ocaña

Biochim Biophys Acta· January 2014

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Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Denise Cassandrini, Maria Roberta Cilio, Marzia Bianchi, Mara Doimo, Martina Balestri

J Inherit Metab Dis· January 2013

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Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
Mara Doimo, Maria Andrea Desbats, Maria Cristina Baldoin, Elisabetta Lenzini, Giuseppe Basso

Hum Mutat· January 2013

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