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Glutathione Regulation of Neutral Sphingomyelinase in Tumor Necrosis Factor-α-induced Cell Death*
Evidence is provided to demonstrate that depletion of GSH is dependent on activity of interleukin-1β-converting enzyme-like proteases but is upstream of the site of action of Bcl-2 and of the execution phase caspases. Expand
Role of JNK1-dependent Bcl-2 Phosphorylation in Ceramide-induced Macroautophagy*
Findings reveal a new aspect of sphingolipid signaling in up-regulating a major cell process involved in cell adaptation to stress in response to ceramide or to starvation. Expand
Recommendations on the diagnosis and management of Niemann-Pick disease type C.
This commentary reviews current literature on key aspects of the clinical management of NP-C in children, juveniles and adults, and provides recommendations based on consensus between the experts at the meeting. Expand
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
Analysis of clinical manifestations at diagnosis and over a 6–7 years follow‐up indicated that almost all patients with MPSIII expressed neurological manifestations before the age of 5 years, including language acquisition delay, cognitive delay, and/or abnormal behavior, in contrast to relatively homogeneous early onset manifestations. Expand
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. Expand
Regulation of Autophagy by Sphingosine Kinase 1 and Its Role in Cell Survival during Nutrient Starvation*
Results show that SK1(S1P)-induced autophagy protects cells from death with apoptotic features during nutrient starvation, and is characterized by the inhibition of mammalian target of rapamycin signaling independently of the Akt/protein kinase B signaling arm. Expand
Involvement of FAN in TNF-induced apoptosis.
Stable expression in human fibroblasts of a dominant negative form of FAN abrogates TNF-induced ceramide generation from sphingomyelin hydrolysis and reduces caspase processing, thus markedly inhibiting T NF-triggered apoptosis, highlighting the previously unrecognized role of the adapter protein FAN in signaling cell death induction by TNF. Expand
Lysosomes and lysosomal proteins in cancer cell death (new players of an old struggle).
The role of lysosomes and lysOSomal enzymes, including cathepsins and some lipid hydrolases, in programmed cell death associated with apoptotic or autophagic phenotypes is presented, as evidenced from observations on cultured cells and living animals. Expand
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1.Expand
Daunorubicin‐induced apoptosis: triggering of ceramide generation through sphingomyelin hydrolysis.
Evidence is provided that daunorubicin‐triggered apoptosis is mediated by a signaling pathway which is initiated by an early sphingomyelin‐derived ceramide production, which is of fundamental importance in understanding cell death induced by chemotherapeutic agents. Expand