Search results for "Cer"

The Interplay between Metabolism, PPAR Signaling Pathway, and Cancer

2017

Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA)

2018

Background: Genetic studies of late-onset sporadic ataxias (>40 years of age) are not routinely indicated. For unresolved cases, next-generation sequencing (NGS) tools, such as whole-exome sequencing (WES), are available for a definitive diagnosis.Case presentation: Our patient is a woman with a usual facial phenotype and anthropometry, who developed ataxia at 45 years of age, with no relevant family history and an initial clinical approach that ruled out common aetiologies. WES was performed when the patient was 54 years old. The results identified the heterozygous pathogenic variant c.248delA (p.N83MfsX4) in the nuclear receptor-binding SET domain protein 1 (NSD1; MIM 606681) gene (rel…

Neuroanatomical substrate of noise sensitivity.

2018

Recent functional studies suggest that noise sensitivity, a trait describing attitudes towards noise and predicting noise annoyance, is associated with altered processing in the central auditory system. In the present work, we examined whether noise sensitivity could be related to the structural anatomy of auditory and limbic brain areas. Anatomical MR brain images of 80 subjects were parcellated with FreeSurfer to measure grey matter volume, cortical thickness, cortical area and folding index of anatomical structures in the temporal lobe and insular cortex. The grey matter volume of amygdala and hippocampus was measured as well. According to our findings, noise sensitivity is associated wi…

The European regulatory environment of rna-based vaccines

2016

A variety of different mRNA-based drugs are currently in development. This became possible, since major breakthroughs in RNA research during the last decades allowed impressive improvements of translation, stability and delivery of mRNA. This article focuses on antigen-encoding RNA-based vaccines that are either directed against tumors or pathogens. mRNA-encoded vaccines are developed both for preventive or therapeutic purposes. Most mRNA-based vaccines are directly administered to patients. Alternatively, primary autologous cells from cancer patients are modified ex vivo by the use of mRNA and then are adoptively transferred to patients. In the EU no regulatory guidelines presently exist t…

Lipid droplets and autophagy-links and regulations from yeast to humans.

2021

Recent advances in the yeast Saccharomyces cerevisiae and higher eukaryotes have been increasingly connecting lipid droplet (LD) dynamics to the regulation of autophagy. In this review we will discuss implications that connect LD de novo synthesis and LD mobilization to autophagy and how autophagy is regulated by these mechanisms. Elucidating these connections might pose a chance to further understand autophagy induction and membrane biogenesis for the growing autophagosome under different conditions. Increasing our understanding of these mechanisms might provide a chance to understand several conditions that might be related to LD dysregulation and, possibly, as a consequence of this, dysr…

Selective autophagy restricts IL-9 secretion from TH9 cells: relevance in cancer growth

2018

IF 3.530; International audience

Safety and efficacy of buparlisib (BKM120) and chemotherapy in advanced, squamous non-small cell lung cancer (sqNSCLC): Results from the phase Ib/II …

2016

e20522Background: Phosphatidylinositol 3-kinase (PI3K) pathway activation may contribute to primary and secondary resistance to platinum (Pt)-based chemotherapy (CT) in sqNSCLC. The pan-PI3K inhibi...

AMD3100: A Versatile Platform for CXCR4 Targeting 68 Ga-Based Radiopharmaceuticals

2016

International audience; CXCR4 is a G protein-coupled receptor (GPCR), which is overexpressed in numerous diseases, particularly in multiple cancers. Therefore, this receptor represents a valuable target for imaging and therapeutic purposes. Among the different approaches, which were developed for CXCR4 imaging, a CXCR4 antagonist biscyclam system (AMD3100, also called Mozobil), currently used in the clinic for the mobilization of hematopoietic stem cells, was radiolabeled with different radiometals such as 62Zn, 64Cu, 67Ga, or 99mTc. However, cyclam is not an ideal chelator for most of these radiometals, and could lead to the release of the radionuclide in vivo. In the current study, a new …

Dynamics and predicted drug response of a gene network linking dedifferentiation with β-catenin dysfunction in hepatocellular carcinoma

2019

Background & Aims Alterations of individual genes variably affect the development of hepatocellular carcinoma (HCC). Thus, we aimed to characterize the function of tumor-promoting genes in the context of gene regulatory networks (GRNs). Methods Using data from The Cancer Genome Atlas, from the LIRI-JP (Liver Cancer – RIKEN, JP project), and from our transcriptomic, transfection and mouse transgenic experiments, we identify a GRN which functionally links LIN28B-dependent dedifferentiation with dysfunction of β-catenin (CTNNB1). We further generated and validated a quantitative mathematical model of the GRN using human cell lines and in vivo expression data. Results We found that LIN28B and C…

The cytoprotective protein MANF promotes neuronal survival independently from its role as a GRP78 cofactor

2021

Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER)-stress-regulated protein exhibiting cytoprotective properties through a poorly understood mechanism in various in vitro and in vivo models of neuronal and non-neuronal damage. Although initially characterized as a secreted neurotrophic factor for midbrain dopamine neurons, MANF has recently gained more interest for its intracellular role in regulating the ER homeostasis, including serving as a cofactor of the chaperone glucose-regulated protein 78 (GRP78). We aimed for a better understanding of the neuroprotective mechanisms of MANF. Here we show for the first time that MANF promotes the survival of …