Repository logo
 
Publication

Modeling Rett Syndrome With Human Patient-Specific Forebrain Organoids

2020Journal article Open access
Simple item page
dc.contributor.authorGomes, AR
dc.contributor.authorFernandes, TG
dc.contributor.authorVaz, SH
dc.contributor.authorSilva, TP
dc.contributor.authorBekman, EP
dc.contributor.authorXapelli, S
dc.contributor.authorDuarte, S
dc.contributor.authorGhazvini, M
dc.contributor.authorGribnau, J
dc.contributor.authorMuotri, AR
dc.contributor.authorTrujillo, CA
dc.contributor.authorSebastião, AM
dc.contributor.authorCabral, JM
dc.contributor.authorDiogo, MM
dc.date.accessioned2021-06-09T10:10:24Z
dc.date.available2021-06-09T10:10:24Z
dc.date.issued2020
dc.description.abstractEngineering brain organoids from human induced pluripotent stem cells (hiPSCs) is a powerful tool for modeling brain development and neurological disorders. Rett syndrome (RTT), a rare neurodevelopmental disorder, can greatly benefit from this technology, since it affects multiple neuronal subtypes in forebrain sub-regions. We have established dorsal and ventral forebrain organoids from control and RTT patient-specific hiPSCs recapitulating 3D organization and functional network complexity. Our data revealed a premature development of the deep-cortical layer, associated to the formation of TBR1 and CTIP2 neurons, and a lower expression of neural progenitor/proliferative cells in female RTT dorsal organoids. Moreover, calcium imaging and electrophysiology analysis demonstrated functional defects of RTT neurons. Additionally, assembly of RTT dorsal and ventral organoids revealed impairments of interneuron's migration. Overall, our models provide a better understanding of RTT during early stages of neural development, demonstrating a great potential for personalized diagnosis and drug screening.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationFront Cell Dev Biol . 2020 Dec 10;8:61042pt_PT
dc.identifier.doi10.3389/fcell.2020.610427pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/3722
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherFrontiers Media SApt_PT
dc.subjectRett syndromept_PT
dc.subjectDisease modelingpt_PT
dc.subjectHuman induced pluripotent stem cellspt_PT
dc.subjectNeurodevelopmental disorderspt_PT
dc.subjectHDE NEU PEDpt_PT
dc.titleModeling Rett Syndrome With Human Patient-Specific Forebrain Organoidspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.startPage610427pt_PT
oaire.citation.titleFrontiers in cell and developmental biologypt_PT
oaire.citation.volume8pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Front Cell Develop Biol 2020_8_610427.pdf
Size:
5.03 MB
Format:
Adobe Portable Document Format
Download

Collections

NEU PED - Artigos