Results 61 to 70 of about 6,648 (196)

Elevated glucosylsphingosine in Gaucher disease induced pluripotent stem cell neurons deregulates lysosomal compartment through mammalian target of rapamycin complex 1

open access: yesStem 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

Discovery and Evaluation of Inhibitors of Human Ceramidase [PDF]

open access: yesMolecular Cancer Therapeutics, 2011
Abstract The ceramide/sphingosine-1-phosphate (S1P) rheostat has been hypothesized to play a critical role in regulating tumor cell fate, with elevated levels of ceramide inducing death and elevated levels of S1P leading to survival and proliferation.
Draper, Jeremiah M   +5 more
openaire   +3 more sources

The Sleeping Giant: Metabolism and Autophagy in the Generation and Survival of Dormant Polyploid Giant Cancer Cells

open access: yesMedComm, Volume 7, Issue 10, October 2026.
Polyploid giant cancer cells (PGCCs) arise in response to stress and play a critical role in therapy resistance and tumor dormancy. These cells can evade conventional treatments and later contribute to cancer relapse by generating progeny through nonmitotic, amitotic mechanisms.
Silvia Guil‐Luna   +3 more
wiley   +1 more source

Rare‐Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

open access: yesMovement Disorders, Volume 41, Issue 9, Page 2349-2356, September 2026.
Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich   +21 more
wiley   +1 more source

Alkaline Ceramidase 1 Protects Mice from Premature Hair Loss by Maintaining the Homeostasis of Hair Follicle Stem Cells

open access: yesStem Cell Reports, 2017
Summary: Ceramides and their metabolites are important for the homeostasis of the epidermis, but much remains unknown about the roles of specific pathways of ceramide metabolism in skin biology.
Chih-Li Lin   +14 more
doaj   +1 more source

Acid ceramidase of macrophages traps herpes simplex virus in multivesicular bodies and protects from severe disease

open access: yesNature 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

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

open access: yesAnnals 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

Modifying Acid Ceramidase Inhibitors to Encourage Cancer Cell Apoptosis

open access: yes, 2023
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
core  

Catalytic Mechanism of Eukaryotic Neutral Ceramidase [PDF]

open access: yesStructure, 2015
Neutral ceramidases are key enzymes of sphingolipid metabolism that hydrolyze the fatty acyl/sphingosine amide linkage of ceramide at neutral pH. In this issue of Structure, Airola et al. (2015) present the first crystal structure of human nCDase and show how complexation with phosphate supports a new catalytic mechanism for Zn-dependent amidases while
Malinina, Lucy, Brown, Rhoderick E.
openaire   +2 more sources

Activity of neutral and alkaline ceramidases on fluorogenic N-acylated coumarin-containing aminodiols

open access: yesJournal of Lipid Research, 2015
Ceramidases catalyze the cleavage of ceramides into sphingosine and fatty acids. Previously, we reported on the use of the RBM14 fluorogenic ceramide analogs to determine acidic ceramidase activity.
Mireia Casasampere   +12 more
doaj   +1 more source

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