Publications en collaboration avec des chercheurs de University of Padua (34)

2021

  1. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

  2. Cortical Circuitry and Synaptic Dysfunctions in Alzheimer's Disease and Other Dementias

    Neural Plasticity, Vol. 2021

  3. Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations

    Free Radical Biology and Medicine, Vol. 167, pp. 141-180

2020

  1. Opa1 Overexpression Protects from Early-Onset Mpv17−/−-Related Mouse Kidney Disease

    Molecular Therapy, Vol. 28, Núm. 8, pp. 1918-1930

2019

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

    Oxidative medicine and cellular longevity, Vol. 2019, pp. 3904905

  2. ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency

    Journal of Clinical Medicine, Vol. 8, Núm. 9

2018

  1. Clinical syndromes associated with Coenzyme Q10 deficiency

    Essays in Biochemistry, Vol. 62, Núm. 3, pp. 377-398

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

    Human Mutation, Vol. 39, Núm. 3, pp. 406-414

  3. Molecular diagnosis of coenzyme Q 10 deficiency: an update

    Expert Review of Molecular Diagnostics, Vol. 18, Núm. 6, pp. 491-498

2016

  1. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

  2. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

  3. The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency

    Human Molecular Genetics, Vol. 25, Núm. 19, pp. 4256-4265

  4. Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q 10 content

    European Journal of Human Genetics, Vol. 24, Núm. 3, pp. 367-372

2015

  1. Primary coenzyme Q 10 deficiency presenting as fatal neonatal multiorgan failure

    European Journal of Human Genetics, Vol. 23, Núm. 9, pp. 1254-1258

  2. Molecular diagnosis of coenzyme Q10 deficiency

    Expert Review of Molecular Diagnostics, Vol. 15, Núm. 8, pp. 1049-1059

  3. The genes of coenzyme Q10 biosynthesis

    Coenzyme Q10: From Fact to Fiction (Nova Science Publishers, Inc.), pp. 205-225

2014

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

    Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids, Vol. 1841, Núm. 11, pp. 1628-1638

  2. Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency

    Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1842, Núm. 1, pp. 1-6

2013

  1. Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: A modelling study for human coenzyme Q10 deficiencies

    BMJ Open, Vol. 3, Núm. 3

  2. Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes

    Mitochondrion, Vol. 13, Núm. 4, pp. 337-341