Results 41 to 50 of about 2,521,035 (177)
Stem Cells Translational Medicine, 2021 Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in GBA1, the gene that encodes lysosomal β‐glucocerebrosidase (GCase). Mild mutations in GBA1 cause type 1 non‐neuronopathic GD, whereas severe mutations cause types 2 and 3 ...
Manasa P. Srikanth +6 more
doaj +1 more source
AAV-mediated gene therapy of acid ceramidase deficiency
, 2022 International audienceAcid ceramidase deficiency is an orphan disorder caused by mutations in the ASAH1 genepresenting with a spectrum of clinical manifestations that leads to death in most cases duringearly infancy (Farber disease, FD) or at teenage ...
Latournerie, Virginie +7 more
core +3 more sources
Angewandte Chemie, Volume 138, Issue 41, 5 October 2026.A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
Nicky de Koster +13 more
wiley +2 more sources
JCI Insight, 2022 Adiponectin receptor 1 (ADIPOR1) is a lipid and glucose metabolism regulator that possesses intrinsic ceramidase activity. Mutations of the ADIPOR1 gene have been associated with nonsyndromic and syndromic retinitis pigmentosa.
Dominik Lewandowski +21 more
doaj +1 more source
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay. [PDF]
Neurol GenetInternational audienceBackground and ObjectivesSpinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) due to acid ceramidase deficiency is a rare disorder, allelic with Farber disease, resulting from recessive ASAH1 variants.
Cuinat S +16 more
europepmc +2 more sources
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile
Annals of Clinical and Translational Neurology, 2022 Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme
Michelle M. Lee +16 more
doaj +1 more source
Nature Communications, 2020 Macrophages are critical in limiting replication of herpes simplex virus type 1 (HSV-1). Here the authors show how acid ceramidase and its enzymatic product sphingosine enable multivesicular bodies to function as an anti-viral mechanism.
Judith Lang +30 more
doaj +1 more source
Modifying Acid Ceramidase Inhibitors to Encourage Cancer Cell Apoptosis
, 2021 In 2020 alone 1.9 million new cases of cancer were diagnosed. This challenging disease has a multitude of treatments that all hope to cure the cancer completely without recurrence.
Lang, Emma L
core +1 more source
Activation of Ceramidase and Ceramide Kinase by Vanadate via a Tyrosine Kinase–Mediated Pathway
Journal of Pharmacological Sciences, 2010 .: Ceramide, a key molecule in the metabolism of sphingolipids, is converted by ceramidase to sphingosine, and phosphorylated by ceramide kinase to form ceramide-1-phosphate (C1P). In this study, we improved on a method of thin-layer chromatography using
Eiko Tada +7 more
doaj +1 more source
Sphingoid long chain bases prevent lung infection by Pseudomonas aeruginosa
EMBO Molecular Medicine, 2014 Cystic fibrosis patients and patients with chronic obstructive pulmonary disease, trauma, burn wound, or patients requiring ventilation are susceptible to severe pulmonary infection by Pseudomonas aeruginosa.
Yael Pewzner‐Jung +14 more
doaj +1 more source