Back to search

Article

Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in <i>C9orf72</i> by CRISPR/Cas9 genome editing using homology-directed repair

2019-12-20

Abstract excerpt

The G4C2 hexanucleotide repeat expansion (HRE) in C9orf72 is the commonest cause of familial amyotrophic lateral sclerosis (ALS). A number of different methods have been used to generate isogenic control lines using CRISPR (clustered regularly interspaced short palindromic repeats)/Cas9 and non-homologous end-joining (NHEJ) by deleting the repeat region with the risk of creating indels and genomic instability. In...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
0403ff9c-c248-540f-9314-bcd6f6f68c48
DOI
10.1101/2019.12.17.864520
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in <i>C9orf72</i> by CRISPR/Cas9 genome editing using homology-directed repairDOI 10.1101/2019.12.17.864520
Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair.Semantic proximity
CRISPR/Cas9-Mediated Excision of ALS/FTD-Causing Hexanucleotide Repeat Expansion in <i>C9ORF72</i> rescues major disease mechanisms <i>in vivo</i> and <i>in vitro</i>Semantic proximity
CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitroSemantic proximity
<i>C9orf72</i> Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal DementiaSemantic proximity
Two therapeutic CRISPR/Cas9 gene editing approaches revert FTD/ALS cellular pathology caused by a <i>C9orf72</i> repeat expansion mutation in patient derived cellsSemantic proximity
High content live profiling reveals concomitant gain and loss of function pathomechanisms in C9ORF72 amyotrophic lateral sclerosisSemantic proximity
CRISPR-Cas9 targeted deletion of the <i>C9orf72</i> repeat expansion mutation corrects cellular phenotypes in patient-derived iPS cellsSemantic proximity
CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of <i>C9orf72</i> dipeptide repeat protein toxicitySemantic proximity
Concomitant gain and loss of function pathomechanisms in C9ORF72 amyotrophic lateral sclerosisSemantic proximity
CRISPR/Cas9-mediated generation of a <i>de novo C9ORF72</i> knock-in isogenic iPSC cell bank to model ALS and FTDSemantic proximity
Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a <i>C9ORF72</i> Repeat ExpansionSemantic proximity
A streamlined CRISPR workflow to introduce mutations and generate isogenic iPSCs for modeling amyotrophic lateral sclerosisSemantic proximity
Select a neighboring publication to make it the new centre.