Article
Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.
The American journal of pathology - 1 Apr 2017
Sikora Jakub, Dworski Shaalee, Jones E Ellen, Kamani Mustafa A, Micsenyi Matthew C, Sawada Tomo, Le Faouder Pauline, Bertrand-Michel Justine, Dupuy Aude, Dunn Christopher K, Xuan Ingrid Cong Yang, Casas Josefina, Fabrias Gemma, Hampson David R, Levade Thierry, Drake Richard R, Medin Jeffrey A, Walkley Steven U
Abstract excerpt
Farber disease is a rare autosomal recessive disorder caused by acid ceramidase deficiency that usually presents as early-onset progressive visceral and neurologic disease. To understand the neurologic abnormality, we investigated behavioral, biochemical, and cellular abnormalities in the central nervous system of Asah1P361R/P361R mice, which serve as a model of Farber disease. Behaviorally, the mutant mice had...
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