Search publications
4 results for “Cortical organoids”
-
MBNL2 dysfunction in outer radial glial cells is associated with disrupted corticogenesis in congenital myotonic dystrophy.
Neurobiology of disease · 2026 · 221: 107305
Myotonic dystrophy type 1 (DM1) arises from toxic CUG-expanded DMPK transcripts that sequester Muscleblind-like (MBNL) proteins, yet how this molecular lesion perturbs brain development in congenital DM1 (CDM) remains unknown. Here, we identify an unanticipated developmental role for MBNL2 in …
PMID 41644016 DOI ↗
-
MECP2-related pathways are dysregulated in a cortical organoid model of myotonic dystrophy.
Science translational medicine · 2022 · 14(651): eabn2375
Myotonic dystrophy type 1 (DM1) is a multisystem, autosomal-dominant inherited disorder caused by CTG microsatellite repeat expansions (MREs) in the 3' untranslated region of the dystrophia myotonica-protein kinase (<i>DMPK</i>) gene. Despite its prominence as the most common adult-onset muscular dystrophy, …
PMID 35767654 DOI ↗
-
Reintroduction of the archaic variant of <i>NOVA1</i> in cortical organoids alters neurodevelopment.
Science (New York, N.Y.) · 2021 · 371(6530)
The evolutionarily conserved splicing regulator neuro-oncological ventral antigen 1 (<i>NOVA1</i>) plays a key role in neural development and function. <i>NOVA1</i> also includes a protein-coding difference between the modern human genome and Neanderthal and Denisovan genomes. To investigate the functional importance …
PMID 33574182 DOI ↗
-
Complex Oscillatory Waves Emerging from Cortical Organoids Model Early Human Brain Network Development.
Cell stem cell · 2019 · 25(4): 558-569.e7
Structural and transcriptional changes during early brain maturation follow fixed developmental programs defined by genetics. However, whether this is true for functional network activity remains unknown, primarily due to experimental inaccessibility of the initial stages of the living human brain. …
PMID 31474560 DOI ↗
Datasets 4
MECP2-related pathways are dysregulated in a cortical organoid model of Myotonic dystrophy [scRNA-Seq]
Homo sapiens · GPL24676
MECP2-related pathways are dysregulated in a cortical organoid model of Myotonic dystrophy [bulk RNA-Seq]
Homo sapiens · GPL24676
Nested oscillatory dynamics in cortical organoids model early human brain network development
Homo sapiens · GPL20301
MECP2-related pathways are dysregulated in a cortical organoid model of Myotonic dystrophy [eCLIP]
Homo sapiens · GPL16791
Analyses 1
GSE130238 · 3 steps · RNA-Seq · code_examples
Complex Oscillatory Waves Emerging from Cortical Organoids Model Early Human Brain Network Development. (2019)