A streamlined CRISPR workflow to introduce mutations and generate isogenic iPSCs for modeling amyotrophic lateral sclerosis
E Deneault, M Chaineau, M Nicouleau, MJC Montiel… - Methods, 2022 - Elsevier
Amyotrophic lateral sclerosis (ALS) represents a complex neurodegenerative disorder with
significant genetic heterogeneity. To date, both the genetic etiology and the underlying …
significant genetic heterogeneity. To date, both the genetic etiology and the underlying …
[HTML][HTML] Homozygous ALS-linked mutations in TARDBP/TDP-43 lead to hypoactivity and synaptic abnormalities in human iPSC-derived motor neurons
S Lépine, A Nauleau-Javaudin, E Deneault, CXQ Chen… - Iscience, 2024 - cell.com
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) …
pathological hallmark of the motor neuron (MN) disease amyotrophic lateral sclerosis (ALS) …
[HTML][HTML] Generation of homozygous PRKN, PINK1 and double PINK1/PRKN knockout cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 …
CXQ Chen, Z You, N Abdian, J Sirois, I Shlaifer… - Stem Cell Research, 2022 - Elsevier
Autosomal recessive mutations in either PRKN or PINK1 are associated with early-onset
Parkinson's disease. The corresponding proteins, PRKN, an E3 ubiquitin ligase, and the …
Parkinson's disease. The corresponding proteins, PRKN, an E3 ubiquitin ligase, and the …
Reliable multiplex generation of pooled induced pluripotent stem cells
M Smullen, MN Olson, JM Reichert, P Dawes… - Cell Reports …, 2023 - cell.com
Reprogramming somatic cells into pluripotent stem cells (iPSCs) enables the study of
systems in vitro. To increase the throughput of reprogramming, we present induction of …
systems in vitro. To increase the throughput of reprogramming, we present induction of …
Homozygous ALS-linked mutations in TARDBP/TDP-43 lead to progressive synaptic dysfunction in human iPSC-derived motor neurons
S Lépine, A Nauleau-Javaudin, E Deneault, CXQ Chen… - bioRxiv, 2023 - biorxiv.org
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) …
pathological hallmark of the motor neuron (MN) disease amyotrophic lateral sclerosis (ALS) …
[HTML][HTML] Generation of patient-derived pluripotent stem cell-lines and CRISPR modified isogenic controls with mutations in the Parkinson's associated GBA gene
CXQ Chen, E Deneault, N Abdian, Z You, J Sirois… - Stem Cell Research, 2022 - Elsevier
The GBA gene encodes the lysosomal enzyme glucocerebrosidase (GCase), responsible
for the hydrolysis of glucocerebroside to glucose and ceramide. Heterozygous GBA …
for the hydrolysis of glucocerebroside to glucose and ceramide. Heterozygous GBA …
Reliable multiplex generation of pooled induced pluripotent stem cells for genetic testing
M Smullen, JM Reichert, P Dawes, Q Wang… - bioRxiv, 2022 - biorxiv.org
Inducing somatic cells into pluripotent stem cells (iPSCs) provides an excellent model for
studying systems in-vitro. Understanding the impact of individual donor genetic backgrounds …
studying systems in-vitro. Understanding the impact of individual donor genetic backgrounds …
Generation of PRKN and PINK1-KO and double KO cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 editing
CXQ Chen, Z You, N Abdian, J Sirois, I Shlaifer… - bioRxiv, 2022 - biorxiv.org
Autosomal recessive mutations in either PRKN or PINK1 are associated with early-onset
Parkinson's disease. The corresponding proteins, PRKN, an E3 ubiquitin ligase, and the …
Parkinson's disease. The corresponding proteins, PRKN, an E3 ubiquitin ligase, and the …