Zobrazeno 1 - 10
of 155
pro vyhledávání: '"Ana, Ferreiro"'
Autor:
Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100499- (2023)
Externí odkaz:
https://doaj.org/article/e75223815948439e9477ffcd46c3405b
Autor:
Valérie Biancalana, John Rendu, Annabelle Chaussenot, Helen Mecili, Eric Bieth, Mélanie Fradin, Sandra Mercier, Maud Michaud, Marie-Christine Nougues, Laurent Pasquier, Sabrina Sacconi, Norma B. Romero, Pascale Marcorelles, François Jérôme Authier, Antoinette Gelot Bernabe, Emmanuelle Uro-Coste, Claude Cances, Bertrand Isidor, Armelle Magot, Marie-Christine Minot-Myhie, Yann Péréon, Julie Perrier-Boeswillwald, Gilles Bretaudeau, Nicolas Dondaine, Alison Bouzenard, Mégane Pizzimenti, Bruno Eymard, Ana Ferreiro, Jocelyn Laporte, Julien Fauré, Johann Böhm
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-10 (2021)
Abstract The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca2+ channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca2+-dependent muscle contraction. Abnormal RyR1 activity compromises normal musc
Externí odkaz:
https://doaj.org/article/5cf31dd78b474640baaf16ef899f028a
Autor:
Coralie Hakibilen, Florence Delort, Marie-Thérèse Daher, Pierre Joanne, Eva Cabet, Olivier Cardoso, Fany Bourgois-Rocha, Cuixia Tian, Eloy Rivas, Marcos Madruga, Ana Ferreiro, Alain Lilienbaum, Patrick Vicart, Onnik Agbulut, Sylvie Hénon, Sabrina Batonnet-Pichon
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Cellular adhesion and migration are key functions that are disrupted in numerous diseases. We report that desmin, a type-III muscle-specific intermediate filament, is a novel cell adhesion regulator. Expression of p.R406W mutant desmin, identified in
Externí odkaz:
https://doaj.org/article/12b77063322b48c8ba1ebb36cdf0aadb
Autor:
Beatriz Garcia Trincado, Jesús Conde Freire, Manuel Francisco Liroa Romero, Ana Ferreiro González, Elena Rodríguez Ameijeriras, Emilio Casariego Vales
Publikováno v:
Galicia Clínica, Vol 82, Iss 2, Pp 72-74 (2021)
RESUMEN Objetivo: Describir la evolución de los ingresos hospitalarios, en plantas de hospitalización y Cuidados Intensivos, y la mortalidad en el hospital de un área afectada con tasas de incidencia medias por la pandemia COVID-19. Métodos: Estu
Externí odkaz:
https://doaj.org/article/64a60b6137964d429f2187bc4e470a7c
Autor:
Rezlène Bargui, Audrey Solgadi, Florent Dumont, Bastien Prost, Nathalie Vadrot, Anne Filipe, Andrew T. V. Ho, Ana Ferreiro, Maryline Moulin
Publikováno v:
Biomedicines, Vol 11, Iss 2, p 234 (2023)
Growing evidence shows that the lipid bilayer is a key site for membrane interactions and signal transduction. Surprisingly, phospholipids have not been widely studied in skeletal muscles, although mutations in genes involved in their biosynthesis ha
Externí odkaz:
https://doaj.org/article/c1a6f690b4be4078abdd76d2a8e338f6
Autor:
Nathalie Vadrot, Flavie Ader, Maryline Moulin, Marie Merlant, Françoise Chapon, Estelle Gandjbakhch, Fabien Labombarda, Pascale Maragnes, Patricia Réant, Caroline Rooryck, Vincent Probst, Erwan Donal, Pascale Richard, Ana Ferreiro, Brigitte Buendia
Publikováno v:
Cells, Vol 12, Iss 2, p 337 (2023)
A single missense variant of the TMPO/LAP2α gene, encoding LAP2 proteins, has been associated with cardiomyopathy in two brothers. To further evaluate its role in cardiac muscle, we included TMPO in our cardiomyopathy diagnostic gene panel. A screen
Externí odkaz:
https://doaj.org/article/80a8f8ced7294c75b99aa14eec07ad39
Autor:
Alexandra Breukel, Raffaella Willmann, Kate Adcock, Alexandre Méjat, Ingeborg Meijer, Ana Ferreiro
Publikováno v:
Neuromuscular Disorders. 33:285-287
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da19e5988e0e34be2756c088f81c1d71
https://doi.org/10.1016/j.nmd.2023.01.005
https://doi.org/10.1016/j.nmd.2023.01.005
Autor:
Ersilia Varone, Diego Pozzer, Simona Di Modica, Alexander Chernorudskiy, Leonardo Nogara, Martina Baraldo, Mario Cinquanta, Stefano Fumagalli, Rocio Nur Villar-Quiles, Maria-Grazia De Simoni, Bert Blaauw, Ana Ferreiro, Ester Zito
Publikováno v:
Redox Biology, Vol 24, Iss , Pp - (2019)
Selenoprotein N (SELENON) is an endoplasmic reticulum (ER) protein whose loss of function leads to a congenital myopathy associated with insulin resistance (SEPN1-related myopathy). The exact cause of the insulin resistance in patients with SELENON l
Externí odkaz:
https://doaj.org/article/73fb0f5074fc465186227627ec912a26
Autor:
Ester Zito, Ana Ferreiro
Publikováno v:
Cells, Vol 10, Iss 5, p 1116 (2021)
Selenoprotein N (SEPN1) is a type II glycoprotein of the endoplasmic reticulum (ER) that senses calcium levels to tune the activity of the sarcoplasmic reticulum calcium pump (SERCA pump) through a redox-mediated mechanism, modulating ER calcium home
Externí odkaz:
https://doaj.org/article/3220fb6433cb4d78bc03dd50074e0305
Autor:
Alice Barateau, Nathalie Vadrot, Patrick Vicart, Ana Ferreiro, Michèle Mayer, Delphine Héron, Corinne Vigouroux, Brigitte Buendia
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0169189 (2017)
A-type lamins, the intermediate filament proteins participating in nuclear structure and function, are encoded by LMNA. LMNA mutations can lead to laminopathies such as lipodystrophies, premature aging syndromes (progeria) and muscular dystrophies. H
Externí odkaz:
https://doaj.org/article/60f3130735364f018730f132b7cc97e7