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Article
Evaluation of a New High-Throughput Next-Generation Sequencing Method Based on a Custom AmpliSeq™ Library and Ion Torrent PGM™ Sequencing for the Rapid Detection of Genetic Variations in Long QT Syndrome
Inherited long QT syndrome (LQTS) is a cardiac channelopathy associated with a high risk of sudden death. The prevalence has been estimated at close to 1:2,000. Due to large cohorts to investigate and high rat...
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Article
Open Accessp53-independent early and late apoptosis is mediated by ceramide after exposure of tumor cells to photon or carbon ion irradiation
To determine whether ceramide is responsible for the induction of p53-independent early or late apoptosis in response to high- and low-Linear-Energy-Transfer (LET) irradiation.
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Article
U1 snRNA mis-binding: a new cause of CMT1B
We report the molecular characterization of two splice mutations in two different French families affected with a late onset form of Charcot–Marie–Tooth disease type 1B (CMT1B), an autosomal dominant inherited...
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Article
Contribution of Long-QT Syndrome Genetic Variants in Sudden Infant Death Syndrome
A cohort of 52 French unrelated infant cases who died unexpectedly before they reached 12 months of age was blindly investigated to better quantify the contribution of long-QT syndrome (LQTS) genetic variants ...
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Article
Overcoming resistance to γ-rays in squamous carcinoma cells by poly-drug elevation of ceramide levels
Recent strategies to sensitize radioresistant tumours are based on combining γ-irradiation with inducers of apoptosis. We report that the combination of three inhibitors of sphingolipid metabolism, DL-threo-1-phe...
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Article
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa
There is a high incidence of Niemann-Pick type B disease in the Maghreb region of North Africa, which includes Morocco, Algeria and Tunisia. A hypothesis that there may well be a common, predominant mutant aci...
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Chapter and Conference Paper
Pathophysiological Approach of Niemann-Pick Disease Type C: Definition of a Biochemical Heterogeneity and Reevaluation of the Lipid Storage Process
In Niemann-Pick disease group C, the considerably lesser increase in tissue sphingomyelin content as compared to groups A and B was already emphasized in the first report by Crocker (1961). Later investigation...
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Chapter
Immunological Studies on Acidic Sphingomyelinase
Intrinsic properties of acidic sphingomyelinase cause major difficulties in attempts to produce a satisfactory antibody. The only two published papers do not carry conviction: the monoclonal antibody described...
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Chapter
Sphingomyelinase and Niemann-Pick Disease
Niemann-Pick disease (NPD) is the name given to a group of genetic disorders in which the common feature is a varying degree of sphingomyelin storage in certain tissues. The wide range of clinical heterogeneit...
