Acid ceramidase involved in pathogenic cascade leading to accumulation of α-synuclein in iPSC model of GBA1-associated Parkinson’s disease [PDF]
Hum Mol Genet, 2023 Bi-allelic mutations in GBA1, the gene that encodes β-glucocerebrosidase (GCase), cause Gaucher disease (GD), whereas mono-allelic mutations do not cause overt pathology.
M. Kumar +5 more
semanticscholar +2 more sources
High-throughput discovery of novel small-molecule inhibitors of acid Ceramidase [PDF]
Journal of Enzyme Inhibition and Medicinal Chemistry, 2023 Ceramide has a key role in the regulation of cellular senescence and apoptosis. As Ceramide levels are lowered by the action of acid ceramidase (AC), abnormally expressed in various cancers, the identification of AC inhibitors has attracted increasing ...
Mazen Aseeri +5 more
doaj +2 more sources
Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions [PDF]
Biomolecules, 2023 Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) are ultra-rare, autosomal-recessive, acid ceramidase (ACDase) deficiency disorders caused by ASAH1 gene mutations.
Annie Kleynerman +5 more
semanticscholar +2 more sources
Acid Ceramidase Inhibitor LCL-805 Antagonizes Akt Signaling and Promotes Iron-Dependent Cell Death in Acute Myeloid Leukemia [PDF]
Cancers (Basel), 2023 Simple Summary The lysosomal lipid hydrolase acid ceramidase is upregulated in acute myeloid leukemia and promotes leukemic blast survival, underscoring its potential for therapeutic targeting.
J. Ung +14 more
semanticscholar +2 more sources
Structural basis for the activation of acid ceramidase [PDF]
Nature Communications, 2018 Acid ceramidase (aCDase) hydrolyzes lysosomal membrane ceramide into sphingosine and its dysfunction leads to a variety of disease phenotypes. Here, the authors present structures of aCDase in its proenzyme and autocleaved forms, which provides insight ...
Ahmad Gebai +4 more
doaj +3 more sources
Overexpression of the β-Subunit of Acid Ceramidase in the Epidermis of Mice Provokes Atopic Dermatitis-like Skin Symptoms [PDF]
Int J Mol SciWe previously reported that a pathogenic abnormality in the barrier and water-holding functions of the stratum corneum (SC) in the skin of patients with atopic dermatitis (AD) is mainly attributable to significantly decreased levels of total ceramides in
Miho Sashikawa-Kimura +7 more
semanticscholar +2 more sources
Infection and Drug Resistance, 2023 Qian Qi,1,2,* Jiawei Xu,1,2,* Yujiao Wang,3,* Jian Zhang,1 Mingxia Gao,1 Yu Li,4 Liang Dong1,2 1Department of Respiratory, the First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Shandong ...
Qi Q +6 more
doaj +2 more sources
Acid ceramidase controls proteasome inhibitor resistance and is a novel therapeutic target for the treatment of relapsed/refractory multiple myeloma [PDF]
HaematologicaMultiple myeloma (MM) patients are often refractory to targeted therapies including proteasome inhibitors. Here, analysis of RNA sequencing data derived from 672 patients with newly diagnosed or relapsed/refractory disease identified the acid ceramidase,
Ryan T. Bishop +15 more
semanticscholar +2 more sources
Unlocking acid ceramidase: a new weapon against proteasome chemoresistance in myeloma [PDF]
HaematologicaNot available.
J. Delgado-Calle
semanticscholar +2 more sources
Cardiac dysfunction and altered gene expression in acid ceramidase deficient mice [PDF]
Am J Physiol Heart Circ PhysiolFarber disease (FD) is an ultra-rare, autosomal-recessive, lysosomal storage disorder attributed to ASAH1 gene mutations. FD is characterized by acid ceramidase (ACDase) deficiency and the accumulation of ceramide in various tissues.
Annie Kleynerman +7 more
semanticscholar +2 more sources