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[Therapeutic perspectives for lysosomal storage disorders caused by acid ceramidase deficiency].

Medecine sciences : M/S
Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy are two ultra-rare lysosomal storage disorders resulting from loss-of-function mutations in the ASAH1 gene encoding for acid ceramidase (ACDase).
Marion Derome   +5 more
semanticscholar   +1 more source

Kinetic Characteristics of Acidic and Alkaline Ceramidase in Human Epidermis

Skin Pharmacology and Physiology, 2007
It has recently become evident that at least five ceramidase (CDase) isoforms are present in human epidermis, and that specifically acidic CDase (aCDase) and alkaline CDase (alkCDase) activities increase during keratinocyte differentiation, and thus might play a pivotal role(s) in permeability barrier function.
Houben, E.   +6 more
openaire   +4 more sources

Human acid ceramidase is overexpressed but not mutated in prostate cancer

Genes, Chromosomes and Cancer, 2000
The human acid ceramidase gene, that causes Farber disease, is located in 8p22, a region frequently altered in several cancers, including prostate cancer. Acid ceramidase catalyzes the hydrolysis of ceramide, a potent lipid second messenger molecule that promotes apoptosis and inhibits cellular proliferation.
R S, Seelan   +5 more
openaire   +2 more sources

Acid ceramidase inhibition: a novel target for cancer therapy

Frontiers in Bioscience, 2008
During the last decade, sphingolipid deregulation, namely the balance between the pro-apoptotic molecule ceramide and the anti-apoptotic sphingolipid sphingosine-1-phosphate, has emerged as an important factor in cancer pathology and resistance to therapy.
Liu, X   +16 more
openaire   +3 more sources

The potential role of acid ceramidase in oral squamous cell carcinoma chemo-resistance by inducing autophagy

Human Cell, 2023
Ali Norouzi   +3 more
semanticscholar   +1 more source

Acid ceramidase inhibition as a mechanism to treat lysosomal disorders

Molecular Genetics and Metabolism, 2023
M. Davies   +3 more
semanticscholar   +1 more source

Acid Ceramidase Deficiency

2015
Michael Beck   +2 more
openaire   +1 more source

Acid Ceramidase Deficiency

2009
Hubert Scharnagl   +199 more
openaire   +1 more source

rAAV-mediated over-expression of acid ceramidase prevents retinopathy in a mouse model of Farber lipogranulomatosis

Gene Therapy, 2022
Hanmeng Zhang   +5 more
semanticscholar   +1 more source

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