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

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

(2012) Alberto Casarin et al.   Orphanet Journal of Rare Diseases

In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis

(2011) Carlo Viscomi et al.   Cell Metabolism

Retinal Structure, Function, and Molecular Pathologic Features in Gyrate Atrophy

(2011) Panagiotis I. Sergouniotis et al.   OPHTHALMOLOGY

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

(2009) Eva Trevisson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Bezafibrate for an Inborn Mitochondrial Beta-Oxidation Defect

(2009) Jean-Paul Bonnefont et al.   NEW ENGLAND JOURNAL OF MEDICINE

RETRACTED: Activation of the PPAR/PGC-1α Pathway Prevents a Bioenergetic Deficit and Effectively Improves a Mitochondrial Myopathy Phenotype

(2008) Tina Wenz et al.   Cell Metabolism

Activation of Peroxisome Proliferator-Activated Receptor Pathway Stimulates the Mitochondrial Respiratory Chain and Can Correct Deficiencies in Patients’ Cells Lacking Its Components

(2008) Jean Bastin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM