Human genetic defects of sphingolipid synthesis

P Dubot, F Sabourdy, T Levade - Journal of Inherited Metabolic …, 2024 - Wiley Online Library
… have been identified, including defects in the synthesis of ceramides, sphingomyelins and
… , implying partially distinct metabolic pathways, the pathways of SL synthesis in humans are …

Human T-cell lymphotropic virus type I-transformed T-cells have a partial defect in ceramide synthesis in response to N-(4-hydroxyphenyl)retinamide

N Darwiche, G Abou-Lteif, T Najdi… - Biochemical …, 2005 - portlandpress.com
… a defect in endogenous ceramide synthesis In order to verify whether ceramide synthesis
in response to exogenous C 6 -ceramide is … , Jurkat and Molt-4 cells with 20 μM C 6 -ceramide. …

[HTML][HTML] Defect of insulin signal in peripheral tissues: important role of ceramide

RH Hassan, O Bourron, E Hajduch - World journal of diabetes, 2014 - ncbi.nlm.nih.gov
… and were reproduced when alternative inhibitors of de novo ceramide synthesis such as
L-cycloserine (which also inhibits SPT) and Fenretinide (dihydroceramide synthase inhibitor) …

[HTML][HTML] Increased de novo ceramide synthesis and accumulation in failing myocardium

R Ji, H Akashi, K Drosatos, X Liao, H Jiang, PJ Kennel… - JCI insight, 2017 - ncbi.nlm.nih.gov
… However, the failing myocardium develops a defect in use of both fatty acids and glucose …
, changes protein levels of key enzymes of ceramides synthesis pathways, and partially

[HTML][HTML] Ceramides metabolism and impaired epidermal barrier in cutaneous diseases and skin aging: focus on the role of the enzyme PNPLA1 in the synthesis of ω …

N Jonca - OCL, 2019 - ocl-journal.org
… are mainly composed of ceramides, cholesterol and free fatty acids. Ceramides, and more …
the enzyme PNPLA1 is essential for the last step of synthesis of omega-O-acylceramides. Skin …

[HTML][HTML] De novo ceramide synthesis participates in the ultraviolet B irradiation-induced apoptosis in undifferentiated cultured human keratinocytes

Y Uchida, A Di Nardo, V Collins, PM Elias… - Journal of Investigative …, 2003 - Elsevier
… In this study, we directly examined whether ceramide-mediated events are … ceramide
synthesis is activated early following UVB irradiation, an effect attributable to increased ceramide

Ceramide synthesis and metabolism as a target for cancer therapy

CP Reynolds, BJ Maurer, RN Kolesnick - Cancer letters, 2004 - Elsevier
ceramides recycle into long chain ceramides via this pathway [38]). The de novo ceramide
synthetic … ionizing radiation and usually results in a prolonged ceramide elevation [39], [40]. …

A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels

D Dutta, O Kanca, SK Byeon, PC Marcogliese… - Nature …, 2023 - nature.com
… We argue that the main reason for this difference is the partial loss of MECR function in …
an obvious defect in complex assembly in human fibroblasts, possibly because of the partial

Systemic ceramide accumulation leads to severe and varied pathological consequences

AM Alayoubi, JCM Wang, BCY Au… - EMBO molecular …, 2013 - embopress.org
… ACDase defects, accumulated ceramide, … cDNA partially corrected the disease manifestations.
Importantly, we propose in this study a new mechanism that links the build‐up of ceramide

Ceramides and skin function

L Coderch, O López, A de la Maza, JL Parra - American journal of clinical …, 2003 - Springer
… (i) a hydrophobic backbone called ceramide, which consists of a sphingosine base with an
amide-linked fatty acid; and (ii) a polar head group. The ceramide, itself, is synthesized in the …