Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu

Lucia Valente, Valeria Tiranti, Renè Massimiliano Marsano, +11

The American Journal of Human Genetics

Infantile EncephalopathyMitochondrial BiogenesisMitochondrial FunctionGenetic DisorderGenetics +5

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

Erika Fernández‐Vizarra, Angela Berardinelli, Lucia Valente, +2

Journal of Medical Genetics

Phenotype modulators in myophosphorylase deficiency

Andrea Martinuzzi, Elena Sartori, Annachiara Nascimbeni, +10

Annals of Neurology

Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy

Maura Floreani, Eleonora Napoli, Andrea Martinuzzi, +7

FEBS Journal

GeneticsMolecular BiologySevere Oxidative StressRedox BiologyOxidative Stress +16

Identification of novel mutations in five patients with mitochondrial encephalomyopathy

Lucia Valente, Daniela Piga, Eleonora Lamantea, +10

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Mitochondrial MyopathyMendelian DisorderMitochondrial FunctionGenetic DisorderGenetics +6

Antioxidant defences and homeostasis of reactive oxygen species in different human mitochondrial DNA‐depleted cell lines

Lodovica Vergani, Maura Floreani, Aaron P. Russell, +7

European Journal of Biochemistry

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

Erika Fernández‐Vizarra, Angela Berardinelli, Lucia Valente, +2

BMJ Case Reports

GeneticsPathologyMolecular BiologyMolecular GeneticsPseudouridylate Synthase 1 +17

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders

Richard J. Rodenburg, G.C. Schoonderwoerd, Valeria Tiranti, +12

Mitochondrion

Mitochondrial MyopathyMulti-center ComparisonMitochondrial FunctionMedicineBioanalysis +10

The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu·GTP·aa-tRNA ternary complex

Lucia Valente, Narumi Shigi, Tsutomu Suzuki, +1

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

R336q MutationMitochondrial FunctionMitochondrial DynamicGeneticsHuman Mitochondrial Eftu +4

Cultured muscle cells display defects of mitochondrial myopathy ameliorated by anti-oxidants

Lodovica Vergani, Adriana Malena, Patrizia Sabatelli, +10

Brain

Mitochondrial DysfunctionGeneticsGlutathione HomeostasisPathologyMitochondrial Biology +16