DOIMO, MARA

DOIMO, MARA  

Dipartimento di Salute della Donna e del Bambino - SDB  

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Risultati 1 - 20 di 31 (tempo di esecuzione: 0.005 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Exploring the Dispersion and Electrostatic Components in Arene-Arene Interactions between Ligands and G4 DNA to Develop G4-Ligands 2024 Doimo M. + JOURNAL OF MEDICINAL CHEMISTRY - -
G4-Ligand-Conjugated Oligonucleotides Mediate Selective Binding and Stabilization of Individual G4 DNA Structures 2024 Doimo M. + JOURNAL OF THE AMERICAN CHEMICAL SOCIETY - -
Enhanced mitochondrial G-quadruplex formation impedes replication fork progression leading to mtDNA loss in human cells 2023 Doimo M. + NUCLEIC ACIDS RESEARCH - -
A complementary chemical probe approach towards customized studies of G-quadruplex DNA structures in live cells 2022 Doimo M. + CHEMICAL SCIENCE - -
A unique arginine cluster in PolDIP2 enhances nucleotide binding and DNA synthesis by PrimPol 2021 Doimo, M. + NUCLEIC ACIDS RESEARCH - -
Quinazoline Ligands Induce Cancer Cell Death through Selective STAT3 Inhibition and G-Quadruplex Stabilization 2020 Doimo M.Kumar R. + JOURNAL OF THE AMERICAN CHEMICAL SOCIETY - -
{mtDNA} replication, maintenance, and nucleoid organization 2020 Mara Doimo + - - The Human Mitochondrial Genome
A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL 2018 Doimo, MaraZeviani, Massimo + NUCLEIC ACIDS RESEARCH - -
COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2 2018 Cerqua, CristinaMorbidoni, ValeriaDesbats, Maria AndreaDoimo, MaraFrasson, ChiaraBALDOIN, MARIA CRISTINASartori, GeppoBasso, GiuseppeSalviati, LeonardoTrevisson, Eva + BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS - -
Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina 2018 Desbats, Maria AndreaDoimo, MaraSalviati, Leonardo + BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE - -
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function 2018 Doimo, MaraCalderan, CristinaDesbats, Maria AndreaCerqua, CristinaCassina, MatteoSartori, GeppoTrevisson, EvaSalviati, Leonardo + HUMAN MUTATION - -
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations 2017 Doimo M.Calderan C.Aiello C.Bertini E.Salviati L. + ORPHANET JOURNAL OF RARE DISEASES - -
Primary Coenzyme Q10 Deficiency 2017 SALVIATI, LEONARDOTREVISSON, EVADOIMO, MARA + - GENEREVIEWS GeneReviews®
The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency 2016 Andrea Desbats, MariaMORBIDONI, VALERIASILIC-BENUSSI, MICOLDOIMO, MARACIMINALE, VINCENZOCASSINA, MATTEOBASSO, GIUSEPPESALVIATI, LEONARDOTREVISSON, EVA + HUMAN MOLECULAR GENETICS - -
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans 2015 Doimo, MaraLopreiato, RaffaeleBortolotto, RaissaTrevisson, EvaSalviati, Leonardo + JIMD REPORTS - -
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 2015 Desbats MALUNARDI, GIADACASARIN, ALBERTODOIMO, MARASPINAZZI, MARCOANGELINI, CORRADOBURLINA, ALBERTOCHIANDETTI, LINOCLEMENTI, MAURIZIOTREVISSON, EVASALVIATI, LEONARDO + EUROPEAN JOURNAL OF HUMAN GENETICS - -
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency 2014 DOIMO, MARATREVISSON, EVASALVIATI, LEONARDO + BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE - -
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. 2014 DESBATS, MARIA ANDREALUNARDI, GIADADOIMO, MARATREVISSON, EVASALVIATI, LEONARDO JOURNAL OF INHERITED METABOLIC DISEASE - -
Genetics of coenzyme q10 deficiency. 2014 DOIMO, MARADESBATS, MARIA ANDREACASSINA, MATTEOTREVISSON, EVASALVIATI, LEONARDO + MOLECULAR SYNDROMOLOGY - -
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis. 2014 CASARIN, ALBERTODESBATS, MARIA ANDREADOIMO, MARATREVISSON, EVASALVIATI, LEONARDO + BIOCHIMICA ET BIOPHYSICA ACTA - -