Paola Venco

Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

Sabrina Dusi, Lorella Valletta, Tobias B. Haack et al. · The American Journal of Human Genetics · 2013 · 200 citations · Full text

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

Valerio Leoni, Laura Strittmatter, Giovanna Zorzi et al. · Molecular Genetics and Metabolism · 2011 · 119 citations · Full text

Metabolic Syndrome, Metabolic Disorder, Biochemistry +10

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Tobias B. Haack, Erika Ignatius, Javier Calvo‐Garrido et al. · The American Journal of Human Genetics · 2016 · 117 citations · Full text

Neurodegenerative Diseases, Neurological Disorder, Autophagy +8

Coenzyme A corrects pathological defects in human neurons of <scp>PANK</scp> 2‐associated neurodegeneration

Daniel Orellana, Paolo Santambrogio, Alicia Rubio et al. · EMBO Molecular Medicine · 2016 · 88 citations · Full text

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+

Paola Venco, Massimo Bonora, Carlotta Giorgi et al. · Frontiers in Genetics · 2015 · 72 citations · Full text

Neurodegenerative Diseases, Mitochondrial Biogenesis, Mitochondrial Function +15