Publications by authors named "Delphine Villeneuve"
Describe our experience with tocilizumab in the treatment of refractory relapsing polychondritis with ocular involvement. Retrospective consecutive interventional case series that included all patients that received tocilizumab for the treatment of relapsing polychondritis with ocular manifestations. Three cases were selected and the duration of tocilizumab treatment ranged from 1 to 2 years.
View Article and Find Full Text PDFmTOR activation is essential and sufficient to cause polycystic kidneys in Tuberous Sclerosis Complex (TSC) and other genetic disorders. In disease models, a sharp increase of proliferation and cyst formation correlates with a dramatic loss of oriented cell division (OCD). We find that OCD distortion is intrinsically due to S6 kinase 1 (S6K1) activation.
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- Impaired metabolism of glucose and fatty acids in skeletal muscles can lead to serious muscle conditions like myopathy and rhabdomyolysis, especially in children with LPIN1 gene mutations.
- Lipin1 deficiency in mouse models causes myopathy with notable lipid accumulation and metabolic imbalances, indicating issues in fatty acid synthesis and oxidation.
- Treatments with TUDCA and bezafibrate show promise in improving muscle health and strength in cases of lipin1 deficiency by addressing underlying cellular stress.
The inactivation of S6 kinases mimics several aspects of caloric restriction, including small body size, increased insulin sensitivity and longevity. However, the impact of S6 kinase activity on cellular senescence remains to be established. Here, we show that the constitutive activation of mammalian target of rapamycin complex 1 (mTORC1) by tuberous sclerosis complex (TSC) mutations induces a premature senescence programme in fibroblasts that relies on S6 kinases.
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