Web26 lug 2024 · ASAH1 is ubiquitously expressed, with highest expression in the heart and kidney. 31 Increased ASAH1 expression has been reported in the aging kidney, 32 while lack of ceramidase activity in the ... Web26 lug 2024 · ASAH1 is an acid ceramidase known to be involved in tumor formation by controlling the ratio of ceramide and sphingosine.
Entry - *613468 - N-ACYLSPHINGOSINE …
Web30 apr 2024 · The imbalance in sphingolipid signaling may be critically linked to the upstream events in the neurodegenerative cascade of Alzheimer’s disease (AD). We analyzed the influence of mutant (V717I) amyloid β precursor protein (AβPP) transgene on sphingolipid metabolism enzymes in mouse hippocampus. At 3 months of age AβPP/Aβ … Web25 set 2024 · Acid ceramidase ASAH1 is expressed in melanoma cells. a Heatmap showing the expression of genes in the invasive (red group) and proliferative (blue group) cells. … paperport won\\u0027t load
ASAH1 - Antibodies - The Human Protein Atlas
WebASAH1_000069. ACMG PVS1, PM2, PM3, PP3, PP4; The patient's electroclinical phenotype is consistent with previous reports of SMA-PME due to pathogenic variants in ASAH1. The parents are not related, consistent with the bi-allelic autosomal recessive inheritance of two rare damaging variants in this established PME gene. Web13 dic 2016 · Acid ceramidase (aCDase, ASAH1) hydrolyzes lysosomal membrane ceramide into sphingosine, the backbone of all sphingolipids, to regulate many cellular processes. Abnormal function of aCDase leads to Farber disease, spinal muscular atrophy with progressive myoclonic epilepsy, and is associated with Alzheimer's, diabetes, and … Web7 nov 2024 · ASAH1 is identified as a de novo glioblastoma drug target, and ASAH1 inhibitors, such as carmofur, are shown to be highly effective and to specifically target glioblastoma GSCs. Carmofur is an ASAH1 inhibitor that crosses the blood-brain barrier, a major bottleneck in glioblastoma treatment. paperport won\\u0027t scan multiple pages