Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells

Marco Spinazzi, Alberto Casarin, Vanessa Pertegato, +2

Nature Protocols

Cellular EnzymologyMitochondrial FunctionBiochemistryMitochondrial DynamicPhysiology +5

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Saskia F. Heeringa, Gil Chernin, Moumita Chaki, +52

Journal of Clinical Investigation

PGE1 stimulation of HEK293 cells generates multiple contiguous domains with different [cAMP]: role of compartmentalized phosphodiesterases

Anna Terrin, Giulietta Di Benedetto, Vanessa Pertegato, +8

The Journal of Cell Biology

Transcriptional programming of lipid and amino acid metabolism by the skeletal muscle circadian clock

Kenneth A. Dyar, Michael Hubert, Ashfaq Ali Mir, +20

PLoS Biology

Neutral Lipid StorageAmino Acid MetabolismMetabolic SignalingMetabolic StateHuman Metabolism +20

Haploinsufficiency of <i>COQ4</i> causes coenzyme Q₁₀ deficiency

Leonardo Salviati, Eva Trevisson, María Hernández, +16

Journal of Medical Genetics

Unitary permeability of gap junction channels to second messengers measured by FRET microscopy

Victor H. Hernández, Mario Bortolozzi, Vanessa Pertegato, +5

Nature Methods

Gap Junction ChannelsBiophysical ModelingUnitary PermeabilityMembrane TransportMolecular Biology +10

Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders

Marco Spinazzi, Alberto Casarin, Vanessa Pertegato, +3

Mitochondrion

Mitochondrial MyopathyMuscle FunctionMitochondrial FunctionBiochemistryBioanalysis +5

Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis

Alberto Casarin, Jose Carlos Jimenez-Ortega, Eva Trevisson, +11

Biochemical and Biophysical Research Communications

BiosynthesisBiochemistryCoenzyme Q10 BiosynthesisGeneticsNatural Sciences +8

Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations

Eva Trevisson, Alberto Burlina, Mara Doimo, +7

Journal of Biological Chemistry

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations

Alberto Casarin, Gianpietro Giorgi, Vanessa Pertegato, +14

Orphanet Journal of Rare Diseases