Metabolic lipid muscle disorders: biomarkers and treatment

by Corrado Angelini, Elena Pennisi, Sara Missaglia, Daniela Tavian
Published 2019-04-01

Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

by Sara Missaglia, Daniela Tavian, Laura Moro, Corrado Angelini
Published 2018-11-01

Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents

by Murat Durdu, Sara Missaglia, Laura Moro, Daniela Tavian
Published 2018-05-01

Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function

by Sara Missaglia, Rosalind A. Coleman, Alvaro Mordente, Daniela Tavian
Published 2019-02-01

ROS-dependent HIF1α activation under forced lipid catabolism entails glycolysis and mitophagy as mediators of higher proliferation rate in cervical cancer cells

by Serena Castelli, Fabio Ciccarone, Daniela Tavian, Maria Rosa Ciriolo
Published 2021-03-01

Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome

by Daniela Tavian, Murat Durdu, Corrado Angelini, Enza Torre, Sara Missaglia
Published 2021-05-01

Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients

by Sara Missaglia, Valentina Pegoraro, Roberta Marozzo, Daniela Tavian, Corrado Angelini
Published 2020-03-01

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings

by Ali Haydar Eskiocak, Sara Missaglia, Laura Moro, Murat Durdu, Daniela Tavian
Published 2019-12-01

A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy

by Daniela Tavian, Lorenzo Maggi, Marina Mora, Lucia Morandi, Cinzia Bragato, Sara Missaglia
Published 2021-01-01

Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations

by Sara Missaglia, Daniela Tavian, Sandro Michelini, Paolo Enrico Maltese, Andrea Bonanomi, Matteo Bertelli
Published 2021-04-01

Coordinated sumoylation and ubiquitination modulate EGF induced EGR1 expression and stability.

by Arcangela Gabriella Manente, Giulia Pinton, Daniela Tavian, Gerardo Lopez-Rodas, Elisa Brunelli, Laura Moro
Published 2011-01-01

<i>FOXC2</i> Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation

by Daniela Tavian, Sara Missaglia, Sandro Michelini, Paolo Enrico Maltese, Elena Manara, Alvaro Mordente, Matteo Bertelli
Published 2020-07-01

CDKN2A Determines Mesothelioma Cell Fate to EZH2 Inhibition

by Giulia Pinton, Zhuo Wang, Cecilia Balzano, Sara Missaglia, Daniela Tavian, Renzo Boldorini, Dean A. Fennell, Martin Griffin, Laura Moro
Published 2021-07-01

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

by Elena Maria Pennisi, Marcello Arca, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Adele D’amico, Matteo Garibaldi, Francesca Gragnani, Lorenzo Maggi, Roberto Massa, Sara Missaglia, Lucia Morandi, Olimpia Musumeci, Elena Pegoraro, Emanuele Rastelli, Filippo Maria Santorelli, Elisabetta Tasca, Daniela Tavian, Antonio Toscano, Corrado Angelini, The Italian NLSD Group
Published 2017-05-01