Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Eric Deneault"'
Autor:
Eric Deneault
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 5, Pp 4147-4185 (2024)
Recent years have witnessed unprecedented progress in therapeutic gene editing, revolutionizing the approach to treating genetic disorders. In this comprehensive review, we discuss the progression of milestones leading to the emergence of the cluster
Externí odkaz:
https://doaj.org/article/480ec0119b1c49458278a41dbf53d952
Autor:
Sarah Lépine, Angela Nauleau-Javaudin, Eric Deneault, Carol X.-Q. Chen, Narges Abdian, Anna Krystina Franco-Flores, Ghazal Haghi, María José Castellanos-Montiel, Gilles Maussion, Mathilde Chaineau, Thomas Martin Durcan
Publikováno v:
iScience, Vol 27, Iss 3, Pp 109166- (2024)
Summary: Cytoplasmic mislocalization and aggregation of the RNA-binding protein TDP-43 is a pathological hallmark of the motor neuron (MN) disease amyotrophic lateral sclerosis (ALS). Furthermore, while mutations in TARDBP (encoding TDP-43) have been
Externí odkaz:
https://doaj.org/article/73868775f5204b04ac9ef6e7679b31de
Autor:
Anelya Gandy, Gilles Maussion, Sara Al-Habyan, Michael Nicouleau, Zhipeng You, Carol X.-Q. Chen, Narges Abdian, Nathalia Aprahamian, Andrea I. Krahn, Louise Larocque, Thomas M. Durcan, Eric Deneault
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 17, p 9493 (2024)
With emerging genetic association studies, new genes and pathways are revealed as causative factors in the development of Parkinson’s disease (PD). However, many of these PD genes are poorly characterized in terms of their function, subcellular loc
Externí odkaz:
https://doaj.org/article/057512424c114bf98312878aaf8b414e
Autor:
Muhammad Faheem, Eric Deneault, Roumiana Alexandrova, Deivid C. Rodrigues, Giovanna Pellecchia, Carole Shum, Mehdi Zarrei, Alina Piekna, Wei Wei, Jennifer L. Howe, Bhooma Thiruvahindrapuram, Sylvia Lamoureux, P. Joel Ross, Clarrisa A. Bradley, James Ellis, Stephen W. Scherer
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-12 (2023)
Abstract Background The X-linked PTCHD1 locus is strongly associated with autism spectrum disorder (ASD). Males who carry chromosome microdeletions of PTCHD1 antisense long non-coding RNA (PTCHD1-AS)/DEAD-box helicase 53 (DDX53) have ASD, or a sub-cl
Externí odkaz:
https://doaj.org/article/ad5d028dd05343348ea7357073f240f8
Autor:
Gilles Maussion, Cecilia Rocha, Narges Abdian, Dimitri Yang, Julien Turk, Dulce Carrillo Valenzuela, Luisa Pimentel, Zhipeng You, Barbara Morquette, Michael Nicouleau, Eric Deneault, Samuel Higgins, Carol X.-Q. Chen, Wolfgang E. Reintsch, Stanley Ho, Vincent Soubannier, Sarah Lépine, Zora Modrusan, Jessica Lund, William Stephenson, Rajib Schubert, Thomas M. Durcan
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 19, p 14926 (2023)
Fragile X syndrome (FXS) is caused by a repression of the FMR1 gene that codes the Fragile X mental retardation protein (FMRP), an RNA binding protein involved in processes that are crucial for proper brain development. To better understand the conse
Externí odkaz:
https://doaj.org/article/33673db386ea41f28dc964b734c4153f
Autor:
Carol X.-Q. Chen, Eric Deneault, Narges Abdian, Zhipeng You, Julien Sirois, Michael Nicouleau, Irina Shlaifer, Lorenza Villegas, Marie-Noëlle Boivin, Lydiane Gaborieau, Jason Karamchandani, Lenore K. Beitel, Edward A. Fon, Thomas M. Durcan
Publikováno v:
Stem Cell Research, Vol 64, Iss , Pp 102919- (2022)
The GBA gene encodes the lysosomal enzyme glucocerebrosidase (GCase), responsible for the hydrolysis of glucocerebroside to glucose and ceramide. Heterozygous GBA mutations have been associated with the development of Parkinson's disease (PD) and dem
Externí odkaz:
https://doaj.org/article/26cc62cf36b54952887416a5c262368f
Autor:
Eric Deneault, Sean H. White, Deivid C. Rodrigues, P. Joel Ross, Muhammad Faheem, Kirill Zaslavsky, Zhuozhi Wang, Roumiana Alexandrova, Giovanna Pellecchia, Wei Wei, Alina Piekna, Gaganjot Kaur, Jennifer L. Howe, Vickie Kwan, Bhooma Thiruvahindrapuram, Susan Walker, Anath C. Lionel, Peter Pasceri, Daniele Merico, Ryan K.C. Yuen, Karun K. Singh, James Ellis, Stephen W. Scherer
Publikováno v:
Stem Cell Reports, Vol 11, Iss 5, Pp 1211-1225 (2018)
Summary: Autism spectrum disorder (ASD) is phenotypically and genetically heterogeneous. We present a CRISPR gene editing strategy to insert a protein tag and premature termination sites creating an induced pluripotent stem cell (iPSC) knockout resou
Externí odkaz:
https://doaj.org/article/ed565f4bc9134ec99bc3339f9bae9c35
Autor:
Marc Woodbury-Smith, Eric Deneault, Ryan K. C. Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L. Howe, Ny Hoang, Mohammed Uddin, Christian R. Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W. Scherer
Publikováno v:
Molecular Autism, Vol 8, Iss 1, Pp 1-10 (2017)
Abstract Background Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe a family with ASD in w
Externí odkaz:
https://doaj.org/article/3dd659a3beed43c69f876cdfc1032c2d
Autor:
Eric Deneault, Muhammad Faheem, Sean H White, Deivid C Rodrigues, Song Sun, Wei Wei, Alina Piekna, Tadeo Thompson, Jennifer L Howe, Leon Chalil, Vickie Kwan, Susan Walker, Peter Pasceri, Frederick P Roth, Ryan KC Yuen, Karun K Singh, James Ellis, Stephen W Scherer
Publikováno v:
eLife, Vol 8 (2019)
Induced pluripotent stem cell (iPSC)-derived neurons are increasingly used to model Autism Spectrum Disorder (ASD), which is clinically and genetically heterogeneous. To study the complex relationship of penetrant and weaker polygenic risk variants t
Externí odkaz:
https://doaj.org/article/985021e3ed064ed49d8ce14418bde9a2
Autor:
Sarah Lépine, Angela Nauleau-Javaudin, Eric Deneault, Carol X.-Q. Chen, Narges Abdian, Anna Krystina Franco-Flores, Ghazal Haghi, María José Castellanos-Montiel, Gilles Maussion, Mathilde Chaineau, Thomas M. Durcan
SummaryCytoplasmic mislocalization and aggregation of the RNA-binding protein TDP-43 is a pathological hallmark of the motor neuron (MN) disease amyotrophic lateral sclerosis (ALS). Furthermore, while mutations in theTARDBPgene (encoding TDP-43) have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dcc157e7897bbef83e921e221bea7f0c
https://doi.org/10.1101/2023.03.22.533562
https://doi.org/10.1101/2023.03.22.533562
