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Development of novel methods and tools to decipher the huntingtin post-translation modifications code

Anass Chiki

Huntington's disease (HD) is a fatal genetic neurodegenerative disorder caused by a CAG repeat expansion in the Huntingtin gene of more than 36 repeats. This repeat is translated into a polyglutamine (polyQ) stretch within the first exon-encoded region of ...

EPFL2020

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Vincent Meyer

Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in similar to 260 genes. Albeit that many genes are implicated in IRD, for 30-50% of the cases, the gene defect ...

WILEY2019

The yeast C/D box snoRNA U14 adopts a "weak" K-turn like conformation recognized by the Snu13 core protein in solution

Benjamin Marcel Daniel Rothé

Non-coding RNAs associate with proteins to form ribonucleoproteins (RNPs), such as ribosome, box C/D snoRNPs, H/ACA snoRNPs, ribonuclease P, telomerase and spliceosome to ensure cell viability. The assembly of these RNA-protein complexes relies on the abil ...

ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER2019

Beyond silence : a functional and evolutionary study of KRAB zinc finger proteins

Pierre-Yves Joseph Laurent Helleboid

Transposable elements (TEs) are genetic units capable of spreading within the genomes of their host. TEs contribute a readily recognizable 45% of the human DNA, reflecting in part their co-option for some as source of protein-coding sequences, for others a ...

EPFL2019

The nuclear receptor corepressor NCoR1 regulates hematopoiesis and leukemogenesis in vivo

Johan Auwerx, Wei Zhang, Lulu Liu, Yao Zhang, Na Zhang

Enhanced understanding of normal and malignant hematopoiesis pathways should facilitate the development of effective clinical treatment strategies for hematopoietic malignancies. Nuclear receptor corepressor 1 (NCoR1) has been implicated in transcriptional ...

AMER SOC HEMATOLOGY2019

Turbulent transport in TCV plasmas with positive and negative triangularity

Stefano Coda, Laurie Porte, Gabriele Merlo, Matteo Fontana

Local gyrokinetic simulations with the GENE code are used to investigate the turbulent transport for different levels of neutral beam injection heating power in the Tokamak a Configuration Variable (TCV) for plasmas with both positive and negative edge tri ...

2019

Casein kinase 2 mediated phosphorylation of Spt6 modulates histone dynamics and regulates spurious transcription

Eric Paquet

CK2 is an essential protein kinase implicated in various cellular processes. In this study, we address a potential role of this kinase in chromatin modulations associated with transcription. We found that CK2 depletion from yeast cells leads to replication ...

OXFORD UNIV PRESS2018

Effects of nitrogen seeding on core ion thermal transport in JET ILW L-mode plasmas

Olivier Sauter, Ambrogio Fasoli, Basil Duval, Stefano Coda, Martinus Gijs, Jonathan Graves, Yves Martin, Duccio Testa, Patrick Blanchard, Bruno Emanuel Ferreira De Sousa Correia

A set of experiments was carried out in JET ILW (Joint European Torus with ITER-Like Wall) L-mode plasmas in order to study the effects of light impurities on core ion thermal transport. N was puffed into some discharges and its profile was measured by act ...

IOP Publishing Ltd2018

Snail mediates repression of the Dlk1-Dio3 locus in lung tumor-infiltrating immune cells

Nadine Fournier, Etienne Meylan, Svenja Johanna Groeneveld, Julien Robert Rémi Faget

The epithelial-mesenchymal transition-inducing transcription factor Snail contributes to tumor progression in different malignancies. In the present study, we used a transcriptomics approach to elucidate the mechanism of Snail-mediated tumor growth promoti ...

2018

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Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Vincent Meyer

WILEY2019