Abstract The Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessively inherited
genetic disease. This syndrome is associated with a decrease in the lipolysis activity in …

Abstract Comparative gene identification-58 (CGI-58), also known as α/β-hydrolase domain-
containing 5 (ABHD5), is a member of a large family of proteins containing an α/β-hydrolase …

Alpha/beta hydrolase domain-containing protein 5 (ABHD5) is a highly conserved protein
that regulates various lipid metabolic pathways via interactions with members of the perilipin …

Ichthyoses are hereditary skin disorders characterized by the formation of scales and defects
in the outermost layer of the epidermis. In dogs, at least six different breed-specific …

Abstract Background Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive
disorder characterized by the multisytemic accumulation of neutral lipids inside the …

Background α/β-hydrolase domain-containing protein 5 (ABHD5) plays an important role in
the triacylglycerols (TAG) hydrolysis. Indeed, ABHD5 is the co-activator of adipose …

Abstract Chanarin–Dorfman Syndrome (CDS) is caused by a defect in the CGI-58/ABHD5
gene resulting in a deficiency of CGI-58 and in intracellular accumulation of triacylglycerol in …

We report a surgically challenging case, in the context of a diagnosis of juvenile glaucoma
refractory to drug therapy, multi-operated, known patient with congenital ichthyosis, part of …

Comparative gene identification-58/α/β hydrolase domain 5: m... : Current Opinion in Lipidology
Comparative gene identification-58/α/β hydrolase domain 5: more than just an adipose …

Materials and Methods: Patients with epilepsy on phenytoin and/or phenobarbital and/or
carbamazepine were categorized into responders and non-responders as per the …