Web1 INTRODUCTION. Farber disease (FD) is an ultrarare inherited lysosomal storage disorder caused by mutations in the ASAH1 gene that encodes the lysosomal hydrolase acid ceramidase (N-acylsphingosine amidohydrolase 1, ACDase).ACDase normally catalyzes the degradation of bioactive ceramides (Cer) into sphingosine (SPH) and free fatty acids. This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease and, recently, with a rare neurodegenerative condition known as spinal muscular atroph…
NM_177924.5 (ASAH1):c.277A>G (p.Ile93Val) AND Farber …
Web30 mar 2016 · ASAH1 variants cause both the severe and early-onset Farber disease and rare cases of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy (SMA … Web30 apr 2024 · The influence of fingolimod on the gene expression of ceramidases in the hippocampus of AβPP (V717I)-transgenic mouse. mRNA expression of ACER2, ACER3, and ASAH1 was measured with real-time PCR in the hippocampus of AβPP-transgenic and control mice at the age of 3, 6, and 12 months. *p < 0.05; ***p < 0.001 as compared with … deficit reduction act title iv
The interaction of ASAH1 and NGF gene involving in ... - PubMed
WebASAH1 (AC, ACDase, ASAH, FLJ21558, PHP32) protein expression summary. We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. ... (ASAH1) gene expression Lucki NC et al J Biol Chem 2011;286(22):19399-409: Web3 feb 2024 · It was found that Asah1 gene deletion in SMCs markedly augmented aortic medial calcification relative to their littermates treated with high doses of Vit D (maximal increase in blood calcium... WebDescription: N-acylsphingosine amidohydrolase 1 (from HGNC ASAH1) RefSeq Summary (NM_177924): This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. deficit restoration obligation simplified