Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H

por Pinard, Maxime, Dastpeyman, Samaneh, Poitras, Christian, Bernard, Geneviève, Gauthier, Marie-Soleil, Coulombe, Benoit
Publicado 2022

Fluorescent labeling in semi-solid medium for selection of mammalian cells secreting high-levels of recombinant proteins

por Caron, Antoine W, Nicolas, Claire, Gaillet, Bruno, Ba, Ismaïla, Pinard, Maxime, Garnier, Alain, Massie, Bernard, Gilbert, Rénald
Publicado 2009

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report

por Macintosh, Julia, Perrier, Stefanie, Pinard, Maxime, Tran, Luan T., Guerrero, Kether, Prasad, Chitra, Prasad, Asuri N., Pastinen, Tomi, Thiffault, Isabelle, Coulombe, Benoit, Bernard, Geneviève
Publicado 2023

The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis

por Choquet, Karine, Pinard, Maxime, Yang, Sharon, Moir, Robyn D., Poitras, Christian, Dicaire, Marie-Josée, Sgarioto, Nicolas, Larivière, Roxanne, Kleinman, Claudia L., Willis, Ian M., Gauthier, Marie-Soleil, Coulombe, Benoit, Brais, Bernard
Publicado 2019

Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy

por Michell-Robinson, Mackenzie A, Watt, Kristin E N, Grouza, Vladimir, Macintosh, Julia, Pinard, Maxime, Tuznik, Marius, Chen, Xiaoru, Darbelli, Lama, Wu, Chia-Lun, Perrier, Stefanie, Chitsaz, Daryan, Uccelli, Nonthué A, Liu, Hanwen, Cox, Timothy C, Müller, Christoph W, Kennedy, Timothy E, Coulombe, Benoit, Rudko, David A, Trainor, Paul A, Bernard, Geneviève
Publicado 2023