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

Pinard, Maxime; Dastpeyman, Samaneh; Poitras, Christian; Bernard, Geneviève; Gauthier, Marie-Soleil; Coulombe, Benoit

Pinard, Maxime; Dastpeyman, Samaneh; Poitras, Christian; Bernard, Geneviève; Gauthier, Marie-Soleil; Coulombe, Benoit.

Afiliação

Pinard M; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, Québec, Canada.
Dastpeyman S; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, Québec, Canada.
Poitras C; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, Québec, Canada.
Bernard G; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.
Gauthier MS; Department of Neurology and Neurosurgery, McGill University, Montreal, Canada.
Coulombe B; Department of Human Genetics, McGill University, Montreal, Canada.

Mol Brain ; 15(1): 98, 2022 11 30.

Article em En | MEDLINE | ID: mdl-36451185

Assuntos

Doenças Neurodegenerativas; RNA Polimerase III; Humanos; RNA Polimerase III/genética; Riluzol; RNA Polimerases Dirigidas por DNA; Mutação de Sentido Incorreto

Palavras-chave

4H leukodystrophy; Drug repurposing; Mass spectrometry; PAQosome; POLR3-related leukodystrophy; Protein complex assembly; RNA polymerase III; Riluzole

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: RNA Polimerase III / Doenças Neurodegenerativas Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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