Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Marie Josée Dicaire"'
Autor:
David Pellerin, Felix Heindl, Carlo Wilke, Matt C. Danzi, Andreas Traschütz, Catherine Ashton, Marie-Josée Dicaire, Alexanne Cuillerier, Giulia Del Gobbo, Kym M. Boycott, Jens Claassen, Dan Rujescu, Annette M. Hartmann, Stephan Zuchner, Bernard Brais, Michael Strupp, Matthis Synofzik
Publikováno v:
EBioMedicine, Vol 102, Iss , Pp 105076- (2024)
Summary: Background: GAA-FGF14 disease/spinocerebellar ataxia 27B is a recently described neurodegenerative disease caused by (GAA)≥250 expansions in the fibroblast growth factor 14 (FGF14) gene, but its phenotypic spectrum, pathogenic threshold, a
Externí odkaz:
https://doaj.org/article/6a45cfb1de324e61a33fa2a7a9970a69
Autor:
Céline Bonnet, David Pellerin, Virginie Roth, Guillemette Clément, Marion Wandzel, Laëtitia Lambert, Solène Frismand, Marian Douarinou, Anais Grosset, Ines Bekkour, Frédéric Weber, Florent Girardier, Clément Robin, Stéphanie Cacciatore, Myriam Bronner, Carine Pourié, Natacha Dreumont, Salomé Puisieux, Pablo Iruzubieta, Marie-Josée Dicaire, François Evoy, Marie-France Rioux, Armand Hocquel, Roberta La Piana, Matthis Synofzik, Henry Houlden, Matt C. Danzi, Stephan Zuchner, Bernard Brais, Mathilde Renaud
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Dominantly inherited GAA repeat expansions in FGF14 are a common cause of spinocerebellar ataxia (GAA-FGF14 ataxia; spinocerebellar ataxia 27B). Molecular confirmation of FGF14 GAA repeat expansions has thus far mostly relied on long-read se
Externí odkaz:
https://doaj.org/article/0d70ee88682e4fa7856f2671e03a40cc
Autor:
Afrooz Dabbaghizadeh, Alexandre Paré, Zacharie Cheng-Boivin, Robin Dagher, Sandra Minotti, Marie-Josée Dicaire, Bernard Brais, Jason C. Young, Heather D. Durham, Benoit J. Gentil
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 24, p 15742 (2022)
Autosomal Recessive Spastic Ataxia of the Charlevoix Saguenay (ARSACS) is caused by mutation in the SACS gene resulting in loss of function of the protein sacsin. A key feature is the formation of abnormal bundles of neurofilaments (NF) in neurons an
Externí odkaz:
https://doaj.org/article/7450367caf1a4e8f95179b3ef9912da8
Autor:
Karine Choquet, Maxime Pinard, Sharon Yang, Robyn D. Moir, Christian Poitras, Marie-Josée Dicaire, Nicolas Sgarioto, Roxanne Larivière, Claudia L. Kleinman, Ian M. Willis, Marie-Soleil Gauthier, Benoit Coulombe, Bernard Brais
Publikováno v:
Molecular Brain, Vol 12, Iss 1, Pp 1-10 (2019)
Abstract Recessive mutations in the ubiquitously expressed POLR3A and POLR3B genes are the most common cause of POLR3-related hypomyelinating leukodystrophy (POLR3-HLD), a rare childhood-onset disorder characterized by deficient cerebral myelin forma
Externí odkaz:
https://doaj.org/article/cbbd2c5dc7884b72a7840efca0d6b4f9
Autor:
Fulya Akçimen, Jay P. Ross, Cynthia V. Bourassa, Calwing Liao, Daniel Rochefort, Maria Thereza Drumond Gama, Marie-Josée Dicaire, Orlando G. Barsottini, Bernard Brais, José Luiz Pedroso, Patrick A. Dion, Guy A. Rouleau
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
A biallelic pentanucleotide expansion in the RFC1 gene has been reported to be a common cause of late-onset ataxia. In the general population, four different repeat conformations are observed: wild type sequence AAAAG (11 repeats) and longer expansio
Externí odkaz:
https://doaj.org/article/3196f93a42ed4362ba5f64f66a72f8a3
Autor:
David Pellerin, Giulia Del Gobbo, Madeline Couse, Egor Dolzhenko, Marie-Josée Dicaire, Adriana Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Phillipa J. Lamont, Nigel G. Laing, Mathilde Renaud, Gianina Ravenscroft, Henry Houlden, Matthis Synofzik, Michael A. Eberle, Kym M. Boycott, Tomi Pastinen, Bernard Brais, Stephan Zuchner, Matt C. Danzi
The factors driving initiation of pathological expansion of tandem repeats remain largely unknown. Here, we assessed theFGF14-SCA27B (GAA)•(TTC) repeat locus in 2,530 individuals by long-read and Sanger sequencing and identified a 5’-flanking 17-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf990e3deb6283fbbf55b68f47fd0412
https://doi.org/10.1101/2023.05.11.540430
https://doi.org/10.1101/2023.05.11.540430
Autor:
Karine Choquet, Sharon Yang, Robyn D. Moir, Diane Forget, Roxanne Larivière, Annie Bouchard, Christian Poitras, Nicolas Sgarioto, Marie-Josée Dicaire, Forough Noohi, Timothy E. Kennedy, Joseph Rochford, Geneviève Bernard, Martin Teichmann, Benoit Coulombe, Ian M. Willis, Claudia L. Kleinman, Bernard Brais
Publikováno v:
Molecular Brain, Vol 10, Iss 1, Pp 1-13 (2017)
Abstract Recessive mutations in the ubiquitously expressed POLR3A gene cause one of the most frequent forms of childhood-onset hypomyelinating leukodystrophy (HLD): POLR3-HLD. POLR3A encodes the largest subunit of RNA Polymerase III (Pol III), which
Externí odkaz:
https://doaj.org/article/e9fa24610fa84790802d0015fd6a49cd
Autor:
Céline Bonnet, David Pellerin, Virginie Roth, Guillemette Clément, Marion Wandzel, Laëtitia Lambert, Solène Frismand, Marian Douarinou, Anais Grosset, Ines Bekkour, Frédéric Weber, Florent Girardier, Clément Robin, Stéphanie Cacciatore, Myriam Bronner, Carine Pourié, Natacha Dreumont, Salomé Puisieux, Marie-Josée Dicaire, François Evoy, Marie-France Rioux, Armand Hocquel, Roberta La Piana, Matthis Synofzik, Henry Houlden, Matt C. Danzi, Stephan Zuchner, Bernard Brais, Mathilde Renaud
BackgroundDominantly inherited GAA repeat expansions inFGF14are a common cause of spinocerebellar ataxia (GAA-FGF14ataxia; SCA27B, late-onset). Molecular confirmation ofFGF14GAA repeat expansions has thus far mostly relied on long-read sequencing, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::184ab9d8411133f69faabeebb69fcbe6
https://doi.org/10.1101/2023.02.02.23285206
https://doi.org/10.1101/2023.02.02.23285206
Autor:
David, Pellerin, Matt C, Danzi, Carlo, Wilke, Mathilde, Renaud, Sarah, Fazal, Marie-Josée, Dicaire, Carolin K, Scriba, Catherine, Ashton, Christopher, Yanick, Danique, Beijer, Adriana, Rebelo, Clarissa, Rocca, Zane, Jaunmuktane, Joshua A, Sonnen, Roxanne, Larivière, David, Genís, Laura, Molina Porcel, Karine, Choquet, Rawan, Sakalla, Sylvie, Provost, Rebecca, Robertson, Xavier, Allard-Chamard, Martine, Tétreault, Sarah J, Reiling, Sara, Nagy, Vikas, Nishadham, Meera, Purushottam, Seena, Vengalil, Mainak, Bardhan, Atchayaram, Nalini, Zhongbo, Chen, Jean, Mathieu, Rami, Massie, Colin H, Chalk, Anne-Louise, Lafontaine, François, Evoy, Marie-France, Rioux, Jiannis, Ragoussis, Kym M, Boycott, Marie-Pierre, Dubé, Antoine, Duquette, Henry, Houlden, Gianina, Ravenscroft, Nigel G, Laing, Phillipa J, Lamont, Mario A, Saporta, Rebecca, Schüle, Ludger, Schöls, Roberta, La Piana, Matthis, Synofzik, Stephan, Zuchner, Bernard, Brais
Publikováno v:
The New England journal of medicine.
The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular diagnosis.We sequenced the genomes of six persons with autosomal dominant LOCA who were members of three French Canadian families and identified a candidate pathogenic repeat e
Autor:
Erin K. O'Ferrall, Vladimir V. Rymar, Abbas F. Sadikot, Bernard Brais, Marie Josée Dicaire, Rebecca Robertson, Robert J. Bryson-Richardson, Talita C. Conte, Jason C. Young, Josée N. Lavoie
Publikováno v:
The American Journal of Pathology. 190:554-562
BCL-2-associated athanogene 3 (BAG3) is a co-chaperone to heat shock proteins important in degrading misfolded proteins through chaperone-assisted selective autophagy. The recurrent dominant BAG3-P209L mutation results in a severe childhood-onset myo