The underlying molecular mechanism leading to peroxisomal dysfunction in the absence of functional ABHD5/CGI-58 is poorly understood. PP13 investigates the consequences of ABHD5 deficiency on peroxisomal β-oxidation of fatty acids and the generation of fatty alcohols essential for ether lipid and wax ester synthesis. PP13 will elucidate the role of ABHD5 in the peroxisomal transport of fatty acids and examine whether mutant variants of ABHD5 known to cause neutral lipid storage disease with ichthyosis affect peroxisome metabolism and aims to identify and characterize putative lipid hydrolases, especially in the skin. PP13 will assess the cause and consequences of defective FA metabolism in skin of mice and human epidermal equivalents with keratinocytes deficient in ABHD5.
