Giorgio Casari

Berberine improves motor deficits in the spastic paraplegia SPG7 mutant mice

This study shows that berberine improves motor deficits in SPG7 mutant mice by modulating mitochondrial permeability transition pore dynamics.

Pharmacological Restoration of Mitochondrial Permeability Transition Pore Flickering by High-Content Drug Repurposing

This study identifies berberine as a compound that enhances mitochondrial permeability transition pore flickering, offering a potential therapeutic strategy for disorders like SPG7.

A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on β cell apoptosis in a patient with Wolfram syndrome.

This study investigates how a WFS1 splice site mutation affects β cell apoptosis in Wolfram syndrome by analyzing alternative splicing and functional consequences in patient-derived iPSCs.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with critical COVID-19

The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.

VarGenius-HZD allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage

VarGenius-HZD detects rare homozygous and hemizygous deletions in targeted sequencing with higher sensitivity than existing tools.

Mice harboring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.

This study creates a new mouse model with a patient-derived SCA28 mutation and shows it leads to late-onset ataxia and mitochondrial dysfunction.