Desbats, Maria Andrea : rechercher sur Z-Library

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1

Genetic bases and clinical manifestations of coenzyme Q10(CoQ10) deficiency

Desbats, Maria Andrea, Lunardi, Giada, Doimo, Mara, Trevisson, Eva, Salviati, Leonardo

Journal:

Journal of Inherited Metabolic Disease

Année:

2015

Langue:

english

Fichier:

PDF, 734 KB

english, 2015

2

Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence

Tezze, Caterina, Romanello, Vanina, Desbats, Maria Andrea, Fadini, Gian Paolo, Albiero, Mattia, Favaro, Giulia, Ciciliot, Stefano, Soriano, Maria Eugenia, Morbidoni, Valeria, Cerqua, Cristina, Loefler

Journal:

Cell Metabolism

Année:

2017

Langue:

english

Fichier:

PDF, 3.92 MB

english, 2017

3

RNA granules: The good, the bad and the ugly

María Gabriela Thomas, Mariela Loschi, María Andrea Desbats, Graciela Lidia Boccaccio

Journal:

Cellular Signalling

Année:

2011

Langue:

english

Fichier:

PDF, 636 KB

english, 2011

4

Functional Analysis of Missense Mutations of OAT , Causing Gyrate Atrophy of Choroid and Retina

Doimo, Mara, Desbats, Maria Andrea, Baldoin, Maria Cristina, Lenzini, Elisabetta, Basso, Giuseppe, Murphy, Elaine, Graziano, Claudio, Seri, Marco, Burlina, Alberto, Sartori, Geppo, Trevisson, Eva, Sal

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 362 KB

english, 2013

5

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

Desbats, Maria Andrea, Vetro, Annalisa, Limongelli, Ivan, Lunardi, Giada, Casarin, Alberto, Doimo, Mara, Spinazzi, Marco, Angelini, Corrado, Cenacchi, Giovanna, Burlina, Alberto, Rodriguez Hernandez,

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 2.14 MB

english, 2015

6

Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis

Nguyen, Theresa P.T., Casarin, Alberto, Desbats, Maria Andrea, Doimo, Mara, Trevisson, Eva, Santos-Ocaña, Carlos, Navas, Placido, Clarke, Catherine F., Salviati, Leonardo

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Année:

2014

Langue:

english

Fichier:

PDF, 2.15 MB

english, 2014

7

Coenzyme Q biosynthesis in health and disease

Acosta, Manuel Jesús, Vazquez Fonseca, Luis, Desbats, Maria Andrea, Cerqua, Cristina, Zordan, Roberta, Trevisson, Eva, Salviati, Leonardo

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Année:

2016

Langue:

english

Fichier:

PDF, 308 KB

english, 2016

8

The COQ2 genotype predicts the severity of coenzyme Q 10 deficiency

Desbats, Maria Andrea, Morbidoni, Valeria, Silic-Benussi, Micol, Doimo, Mara, Ciminale, Vincenzo, Cassina, Matteo, Sacconi, Sabrina, Hirano, Michio, Basso, Giuseppe, Pierrel, Fabien, Navas, Placido, S

Journal:

Human Molecular Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 914 KB

english, 2016

9

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients

Borgia, Doriana, Malena, Adriana, Spinazzi, Marco, Andrea Desbats, Maria, Salviati, Leonardo, Russell, Aaron P., Miotto, Giovanni, Tosatto, Laura, Pegoraro, Elena, Sorarù, Gianni, Pennuto, Maria, Verg

Journal:

Human Molecular Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 3.29 MB

english, 2017

10

Mutations in COQ8B (ADCK4) found in patients with steroid resistant nephrotic syndrome alter COQ8B function

Vazquez Fonseca, Luis, Doimo, Mara, Calderan, Cristina, Desbats, Maria Andrea, Acosta, Manuel J., Cerqua, Cristina, Cassina, Matteo, Ashraf, Shazia, Hildebrandt, Friedhelm, Sartori, Geppo, Navas, Plac

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.33 MB

english, 2017

11

COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2

Cerqua, Cristina, Morbidoni, Valeria, Desbats, Maria Andrea, Doimo, Mara, Frasson, Chiara, Sacconi, Sabrina, Baldoin, Maria Cristina, Sartori, Geppo, Basso, Giuseppe, Salviati, Leonardo, Trevisson, Ev

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2018

12

Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina

Montioli, Riccardo, Desbats, Maria Andrea, Grottelli, Silvia, Doimo, Mara, Bellezza, Ilaria, Borri Voltattorni, Carla, Salviati, Leonardo, Cellini, Barbara

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2018

Langue:

english

Fichier:

PDF, 1.78 MB

english, 2018

13

DRP1-mediated mitochondrial shape controls calcium homeostasis and muscle mass

Favaro, Giulia, Romanello, Vanina, Varanita, Tatiana, Andrea Desbats, Maria, Morbidoni, Valeria, Tezze, Caterina, Albiero, Mattia, Canato, Marta, Gherardi, Gaia, De Stefani, Diego, Mammucari, Cristina

Journal:

Nature Communications

Année:

2019

Langue:

english

Fichier:

PDF, 3.37 MB

english, 2019

14

DRP1-mediated mitochondrial shape controls calcium homeostasis and muscle mass

Favaro, Giulia, Romanello, Vanina, Varanita, Tatiana, Andrea Desbats, Maria, Morbidoni, Valeria, Tezze, Caterina, Albiero, Mattia, Canato, Marta, Gherardi, Gaia, De Stefani, Diego, Mammucari, Cristina

Journal:

Nature Communications

Année:

2019

Fichier:

PDF, 3.37 MB

2019

15

Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6

Acosta Lopez, Manuel J., Trevisson, Eva, Canton, Marcella, Vazquez-Fonseca, Luis, Morbidoni, Valeria, Baschiera, Elisa, Frasson, Chiara, Pelosi, Ludovic, Rascalou, Bérengère, Desbats, Maria Andrea, Al

Journal:

Oxidative Medicine & Cellular Longevity

Année:

2019

Langue:

english

Fichier:

PDF, 7.41 MB

english, 2019

16

Metabolic Plasticity in Chemotherapy Resistance

Desbats, Maria Andrea, Giacomini, Isabella, Prayer-Galetti, Tommaso, Montopoli, Monica

Journal:

Frontiers in Oncology

Année:

2020

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2020

17

Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects

Montioli, Riccardo, Bellezza, Ilaria, Desbats, Maria Andrea, Borri Voltattorni, Carla, Salviati, Leonardo, Cellini, Barbara

Journal:

Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics

Année:

2021

Fichier:

PDF, 1.81 MB

2021