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Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy.
Dworski S, Lu P, Khan A, Maranda B, Mitchell JJ, Parini R, Di Rocco M, Hugle B, Yoshimitsu M, Magnusson B, Makay B, Arslan N, Guelbert N, Ehlert K, Jarisch A, Gardner-Medwin J, Dagher R, Terreri MT, Lorenco CM, Barillas-Arias L, Tanpaiboon P, Solyom A, Norris JS, He X, Schuchman EH, Levade T, Medin JA. Dworski S, et al. Biochim Biophys Acta Mol Basis Dis. 2017 Feb;1863(2):386-394. doi: 10.1016/j.bbadis.2016.11.031. Epub 2016 Dec 1. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 27915031 Free PMC article.
Systemic ceramide accumulation leads to severe and varied pathological consequences.
Alayoubi AM, Wang JC, Au BC, Carpentier S, Garcia V, Dworski S, El-Ghamrasni S, Kirouac KN, Exertier MJ, Xiong ZJ, Privé GG, Simonaro CM, Casas J, Fabrias G, Schuchman EH, Turner PV, Hakem R, Levade T, Medin JA. Alayoubi AM, et al. EMBO Mol Med. 2013 Jun;5(6):827-42. doi: 10.1002/emmm.201202301. Epub 2013 May 16. EMBO Mol Med. 2013. PMID: 23681708 Free PMC article.
Acid ceramidase maintains the chondrogenic phenotype of expanded primary chondrocytes and improves the chondrogenic differentiation of bone marrow-derived mesenchymal stem cells.
Simonaro CM, Sachot S, Ge Y, He X, Deangelis VA, Eliyahu E, Leong DJ, Sun HB, Mason JB, Haskins ME, Richardson DW, Schuchman EH. Simonaro CM, et al. PLoS One. 2013 Apr 26;8(4):e62715. doi: 10.1371/journal.pone.0062715. Print 2013. PLoS One. 2013. PMID: 23638138 Free PMC article.