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References

These sources were used to develop the Genetics Home Reference gene summary on the ASAH1 gene.

Bär J, Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K. Molecular analysis of acid ceramidase deficiency in patients with Farber disease. Hum Mutat. 2001 Mar;17(3):199-209. PubMed citation
Entrez Gene
Farina F, Cappello F, Todaro M, Bucchieri F, Peri G, Zummo G, Stassi G. Involvement of caspase-3 and GD3 ganglioside in ceramide-induced apoptosis in Farber disease. J Histochem Cytochem. 2000 Jan;48(1):57-62. PubMed citation
Li CM, Park JH, He X, Levy B, Chen F, Arai K, Adler DA, Disteche CM, Koch J, Sandhoff K, Schuchman EH. The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. Genomics. 1999 Dec 1;62(2):223-31. PubMed citation
Park JH, Schuchman EH. Acid ceramidase and human disease. Biochim Biophys Acta. 2006 Dec;1758(12):2133-8. Epub 2006 Sep 1. Review. PubMed citation
Zhang Z, Mandal AK, Mital A, Popescu N, Zimonjic D, Moser A, Moser H, Mukherjee AB. Human acid ceramidase gene: novel mutations in Farber disease. Mol Genet Metab. 2000 Aug;70(4):301-9. PubMed citation

Reviewed: October 2007

Published: June 17, 2013