Systemic ceramide accumulation leads to severe and varied pathological consequences

Systemic ceramide accumulation leads to severe and varied pathological consequences

Abstract 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 mutat...

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Main Authors: Abdulfatah M. Alayoubi, James C. M. Wang, Bryan C. Y. Au, Stéphane Carpentier, Virginie Garcia, Shaalee Dworski, Samah El‐Ghamrasni, Kevin N. Kirouac, Mathilde J. Exertier, Zi Jian Xiong, Gilbert G. Privé, Calogera M. Simonaro, Josefina Casas, Gemma Fabrias, Edward H. Schuchman, Patricia V. Turner, Razqallah Hakem, Thierry Levade, Jeffrey A. Medin
Format: Article
Language:English
Published: Springer Nature 2013-05-01
Series:EMBO Molecular Medicine
Subjects:
acid ceramidase
Lysosomal storage disorders
Farber disease
MCP‐1
Online Access:https://doi.org/10.1002/emmm.201202301
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https://doi.org/10.1002/emmm.201202301

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