Article

Targeted gene correction of <i>FKRP</i> by CRISPR/Cas9 restores functional glycosylation of α-dystroglycan in cortical neurons derived from human induced pluripotent stem cells

2017-01-18

Abstract excerpt

<h4>Summary</h4> Mutations in genes required for functional glycosylation of α-dystroglycan cause a group of congenital muscular dystrophies associated with brain malformations, referred to as dystroglycanopathies. The lack of isogenic, physiology-relevant human cellular models has limited our understanding of the cortical abnormalities in dystroglycanopathies. Here we generate induced pluripotent stem cells (iPS...

Topics

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

Identifiers and source

Literature Corpus work: 0cc4db39-54ae-5c1e-abc7-a465abcd52da
DOI: 10.1101/101352

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Targeted gene correction of <i>FKRP</i> by CRISPR/Cas9 restores functional glycosylation of α-dystroglycan in cortical neurons derived from human induced pluripotent stem cellsDOI 10.1101/101352Read

A universal gene correction approach for FKRP-associated dystroglycanopathies to enable autologous cell therapy.Semantic proximity Read

Generation of a CRISPR/Cas9-corrected-hiPSC line (DDLABi001-A) from Fabry disease (FD)-derived iPSCs having α-galactosidase (GLA) gene mutation (c.803_806del).Semantic proximity Read

NAD+ enhances ribitol and ribose rescue of α-dystroglycan functional glycosylation in human FKRP-mutant myotubes.Semantic proximity Read

Generation of a gene-corrected human isogenic iPSC line from a patient with Fabry disease carrying the GLA variant c.1069C>T using CRISPR/Cas9-mediated homology directed repair.Semantic proximity Read

Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in DystroglycanopathySemantic proximity Read

Brain transplantation of genetically corrected Sanfilippo B Neural Stem Cells induces partial cross-correction of the diseaseSemantic proximity Read

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 repairSemantic proximity Read

Neuroectoderm phenotypes in a human stem cell model of O-GlcNAc transferase intellectual disabilitySemantic proximity Read

Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosisSemantic proximity Read

Heterozygous missense variant in <i>GLI2</i> impairs human endocrine pancreas developmentSemantic proximity Read

Neuroectoderm phenotypes in a human stem cell model of O-GlcNAc transferase associated with intellectual disability.Semantic proximity Read

Characterization and phosphoproteomic analysis of a human immortalized podocyte model of Fabry disease generated using CRISPR/Cas9 technologySemantic proximity Read