Article
Systemic ceramide accumulation leads to severe and varied pathological consequences.
EMBO molecular medicine - 1 Jun 2013
Alayoubi Abdulfatah M, Wang James C M, Au Bryan C Y, Carpentier Stéphane, Garcia Virginie, Dworski Shaalee, El-Ghamrasni Samah, Kirouac Kevin N, Exertier Mathilde J, Xiong Zi Jian, Privé Gilbert G, Simonaro Calogera M, Casas Josefina, Fabrias Gemma, Schuchman Edward H, Turner Patricia V, Hakem Razqallah, Levade Thierry, Medin Jeffrey A
Abstract excerpt
Farber disease (FD) is a severe inherited disorder of lipid metabolism characterized by deficient lysosomal acid ceramidase (ACDase) activity, resulting in ceramide accumulation. Ceramide and metabolites have roles in cell apoptosis and proliferation. We introduced a single-nucleotide mutation identified in human FD patients into the murine Asah1 gene to generate the first model of systemic ACDase deficiency....
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