Výsledky vyhledávání - "Eric Deneault"

Akademický článek

Recent Therapeutic Gene Editing Applications to Genetic Disorders

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

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Akademický článek

Homozygous ALS-linked mutations in TARDBP/TDP-43 lead to hypoactivity and synaptic abnormalities in human iPSC-derived motor neurons

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

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Akademický článek

Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons

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

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Akademický článek

Generation of patient-derived pluripotent stem cell-lines and CRISPR modified isogenic controls with mutations in the Parkinson’s associated GBA gene

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

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Akademický článek

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

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

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Akademický článek

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

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

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Akademický článek

CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks

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

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Akademický článek

RNA-Seq reveals spliceosome and proteasome genes as most consistent transcripts in human cancer cells.

Autor: Tara Macrae, Tobias Sargeant, Sébastien Lemieux, Josée Hébert, Eric Deneault, Guy Sauvageau

Publikováno v: PLoS ONE, Vol 8, Iss 9, p e72884 (2013)

Accurate quantification of gene expression by qRT-PCR relies on normalization against a consistently expressed control gene. However, control genes in common use often vary greatly between samples, especially in cancer. The advent of Next Generation

Externí odkaz: https://doaj.org/article/57cea8ce3b4c4ad59eeec2db8db37787

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