Fisiología, Anatomía y Biología Celular
Département
University of Padua
Padua, ItaliaPublications en collaboration avec des chercheurs de University of Padua (40)
2024
-
COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells
Molecular Cell, Vol. 84, Núm. 5, pp. 981-989.e7
-
Emerging mechanisms in the redox regulation of mitochondrial cytochrome c oxidase assembly and function
Biochemical Society Transactions, Vol. 52, Núm. 2, pp. 873-885
-
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
European Journal of Human Genetics, Vol. 32, Núm. 4, pp. 426-434
2021
-
Coenzyme Q biosynthesis disorders
Mitochondrial Diseases: Theory, Diagnosis and Therapy (Springer International Publishing), pp. 143-190
-
Cortical Circuitry and Synaptic Dysfunctions in Alzheimer's Disease and Other Dementias
Neural Plasticity, Vol. 2021
-
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Autophagy, Vol. 17, Núm. 1, pp. 1-382
-
Mitochondrial diseases: Theory, diagnosis and therapy
Springer International Publishing, pp. 1-305
-
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
-
Molecular Structure, Biosynthesis, and Distribution of Coenzyme Q
Coenzyme Q in Aging (Springer International Publishing), pp. 11-49
-
Opa1 Overexpression Protects from Early-Onset Mpv17−/−-Related Mouse Kidney Disease
Molecular Therapy, Vol. 28, Núm. 8, pp. 1918-1930
2019
-
ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency
Journal of Clinical Medicine, Vol. 8, Núm. 9
-
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6
Oxidative medicine and cellular longevity, Vol. 2019, pp. 3904905
2018
-
Molecular diagnosis of coenzyme Q 10 deficiency: an update
Expert Review of Molecular Diagnostics, Vol. 18, Núm. 6, pp. 491-498
-
Clinical syndromes associated with Coenzyme Q10 deficiency
Essays in Biochemistry, Vol. 62, Núm. 3, pp. 377-398
-
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function
Human Mutation, Vol. 39, Núm. 3, pp. 406-414
2016
-
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
-
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)
Autophagy, Vol. 12, Núm. 1, pp. 1-222
-
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
-
The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency
Human Molecular Genetics, Vol. 25, Núm. 19, pp. 4256-4265
2015
-
Molecular diagnosis of coenzyme Q10 deficiency
Expert Review of Molecular Diagnostics, Vol. 15, Núm. 8, pp. 1049-1059