Systemic ceramide accumulation leads to severe and varied pathological consequences

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 ident...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: WILEY-VCH Verlag 2013
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3779446/
https://ncbi.nlm.nih.gov/pubmed/23681708
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/emmm.201202301
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