Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Aurelien Perrin"'
Autor:
Chantal M. Maghames, Sofia Lobato-Gil, Aurelien Perrin, Helene Trauchessec, Manuel S. Rodriguez, Serge Urbach, Philippe Marin, Dimitris P. Xirodimas
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-17 (2018)
Protein NEDDylation increases upon proteotoxic stress but the function of this response remains to be elucidated. Here, the authors show that NEDDylation contributes to the cellular defence against proteotoxicity by promoting nuclear protein aggregat
Externí odkaz:
https://doaj.org/article/85faf55d5a3042e781053e60dc0a6572
Autor:
Aymeric P. Bailly, Aurelien Perrin, Marina Serrano-Macia, Chantal Maghames, Orsolya Leidecker, Helene Trauchessec, M.L. Martinez-Chantar, Anton Gartner, Dimitris P. Xirodimas
Publikováno v:
Cell Reports, Vol 29, Iss 1, Pp 212-224.e8 (2019)
Summary: Ubiquitin and ubiquitin-like chains are finely balanced by conjugating and de-conjugating enzymes. Alterations in this balance trigger the response to stress conditions and are often observed in pathologies. How such changes are detected is
Externí odkaz:
https://doaj.org/article/9fa4ba19a00e48b0a7dfd1435cd67332
Autor:
Marina Serrano-Macia, Aymeric Bailly, Aurelien Perrin, Maghames Chantal, Orsolya Leidecker, Helene Trauchessec, Naroa Goikoetxea, Rubén Rodríguez Agudo, Sofia Lachiondo-Ortega, Anton Gartner, Teresa Cardoso Delgado, Dimitris Xirodimas, Mariá Luz Martińez-Chantar
Publikováno v:
Journal of Hepatology. 73:S644-S645
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d74baf81465399d372f606e9cb7179d
https://doi.org/10.1016/s0168-8278(20)31754-2
https://doi.org/10.1016/s0168-8278(20)31754-2
Autor:
Jean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Gueguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, Éric Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne-Françoise Roux, Benjamin Cogné, David Baux
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-16 (2023)
Abstract SpliceAI is an open-source deep learning splicing prediction algorithm that has demonstrated in the past few years its high ability to predict splicing defects caused by DNA variations. However, its outputs present several drawbacks: (1) alt
Externí odkaz:
https://doaj.org/article/6a70fd35d3034a74859689ebbe00f9a6
Autor:
Aurélien Perrin, Raul Juntas Morales, Françoise Chapon, Corinne Thèze, Delphine Lacourt, Henri Pégeot, Emmanuelle Uro‐Coste, Diane Giovannini, Nicolas Leboucq, Martial Mallaret, Emmeline Lagrange, Valérie Rigau, Karen Gaudon, Pascale Richard, Michel Koenig, Corinne Métay, Mireille Cossée
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 9, Pp 1906-1912 (2021)
Abstract The aim of this study was to analyze patients from two distinct families with a novel distal titinopathy phenotype associated with exactly the same CNV in the TTN gene. We used an integrated strategy combining deep phenotyping and complete m
Externí odkaz:
https://doaj.org/article/82ea21e674cb43eba36e02589a86a40a
Autor:
Aurélien Perrin, Corinne Metay, Marcello Villanova, Robert‐Yves Carlier, Elena Pegoraro, Raul Juntas Morales, Tanya Stojkovic, Isabelle Richard, Pascale Richard, Norma B. Romero, Henk Granzier, Michel Koenig, Edoardo Malfatti, Mireille Cossée
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 846-854 (2020)
Abstract Congenital titinopathies are myopathies with variable phenotypes and inheritance modes. Here, we fully characterized, using an integrated approach (deep phenotyping, muscle morphology, mRNA and protein evaluation in muscle biopsies), two sib
Externí odkaz:
https://doaj.org/article/a55c80afb6a34fee80ea91d426340250
Autor:
David Llères, Benoît Moindrot, Rakesh Pathak, Vincent Piras, Mélody Matelot, Benoît Pignard, Alice Marchand, Mallory Poncelet, Aurélien Perrin, Virgile Tellier, Robert Feil, Daan Noordermeer
Publikováno v:
Genome Biology, Vol 20, Iss 1, Pp 1-17 (2019)
Abstract Background Genomic imprinting is essential for mammalian development and provides a unique paradigm to explore intra-cellular differences in chromatin configuration. So far, the detailed allele-specific chromatin organization of imprinted ge
Externí odkaz:
https://doaj.org/article/6246306ae90347bbb877362b3c3099bb
Autor:
Yanliang Guo, Emmanuel Mercado Gutierrez, David Rey, Thomas Badr, Aurélien Perrin, Laurent Longchambon, Vanderlei Salvador Bagnato, Hélène Perrin, Romain Dubessy
Publikováno v:
New Journal of Physics, Vol 24, Iss 9, p 093040 (2022)
We report the observation of the controlled expansion of a two-dimensional (2D) quantum gas confined onto a curved shell-shaped surface. We start from the ellipsoidal geometry of a dressed quadrupole trap and introduce a novel gravity compensation me
Externí odkaz:
https://doaj.org/article/8465486dd48c4aa1b44dc23de6af7ff4
Meg3 Non-coding RNA Expression Controls Imprinting by Preventing Transcriptional Upregulation in cis
Autor:
Ildem Sanli, Sébastien Lalevée, Marco Cammisa, Aurélien Perrin, Florence Rage, David Llères, Andrea Riccio, Edouard Bertrand, Robert Feil
Publikováno v:
Cell Reports, Vol 23, Iss 2, Pp 337-348 (2018)
Summary: Although many long non-coding RNAs (lncRNAs) are imprinted, their roles often remain unknown. The Dlk1-Dio3 domain expresses the lncRNA Meg3 and multiple microRNAs and small nucleolar RNAs (snoRNAs) on the maternal chromosome and constitutes
Externí odkaz:
https://doaj.org/article/a80c873c04964a5684d8a9616f24fed8
Autor:
David Llères, Aymeric P. Bailly, Aurélien Perrin, David G. Norman, Dimitris P. Xirodimas, Robert Feil
Publikováno v:
Cell Reports, Vol 18, Iss 7, Pp 1791-1803 (2017)
How metazoan genomes are structured at the nanoscale in living cells and tissues remains unknown. Here, we adapted a quantitative FRET (Förster resonance energy transfer)-based fluorescence lifetime imaging microscopy (FLIM) approach to assay nanosc
Externí odkaz:
https://doaj.org/article/09538def5692482eb075e8824f1f3af6