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Pharmaceutics|January 21, 2023
PPAR Gamma Agonist Leriglitazone Recovers Alterations Due to Pank2-Deficiency in hiPS-Derived AstrocytesPaolo Santambrogio, Anna Cozzi, Ivano Di Meo, et al.
Pharmacological Research|April 15, 2026
PPARγ activation by leriglitazone counteracts neurodegeneration and neuroinflammation in a disease-relevant mouse model of COASY dysfunctionChiara Cavestro, Floriana Cascone, Andrea Legati, et al.
Journal of Inherited Metabolic Disease|October 25, 2011
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathyCarla Giordano, Carlo Viscomi, Maurizia Orlandi, et al.
Neurogenetics|August 13, 2021
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activationChiara Cavestro, Celeste Panteghini, Chiara Reale, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|November 20, 2013
AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failureEmanuela Bottani, Carla Giordano, Gabriele Civiletto, et al.
Nature Medicine|January 13, 2009
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathyValeria Tiranti, Carlo Viscomi, Tatjana Hildebrandt, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 23, 2014
Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIEJavier Torres-Torronteras, Carlo Viscomi, Raquel Cabrera-Pérez, et al.
International Journal of Molecular Sciences|December 23, 2020
Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse ModelIvano Di Meo, Chiara Cavestro, Silvia Pedretti, et al.
Brain : a Journal of Neurology|February 27, 2016
Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal diseaseCarlo Dionisi-Vici, Daria Diodato, Giuliano Torre, et al.
Communications Biology|November 28, 2018
Dissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathwaysChristine Podrini, Isaline Rowe, Roberto Pagliarini, et al.
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