SYNGAP1 deficiency disrupts synaptic neoteny in xenotransplanted human cortical neurons in vivo

2024/08/06 by Ben Vermaercke, Ryohei Iwata, Keimpe Wierda +6 · 1 voice
Biochemistry, Genetics and Molecular Biology · #CRISPR and Genetic Engineering #Genetics and Neurodevelopmental Disorders #Retinal Development and Disorders

paper · doi:10.1016/j.neuron.2024.07.007

openalex publication_date 2024/08/06 · crossref created 2024/08/06 · crossref issued 2024/09/01 · crossref published 2024/09/01 · crossref published-print 2024/09/01 · crossref deposited 2024/11/18 · openalex created_date 2025/10/10 · crossref indexed 2026/06/18 · openalex updated_date 2026/08/01

Citations

• Cellular and Molecular Mechanisms Linking Human Cortical Development and Evolution

Discussions

• SYNGAP1 gene haploinsufficiency is responsible for up to 1% of all cases of non-syndromic ID, frequently associated with ASD. Recent work showed that it leads to disrupted synaptic neoteny. This leads [bsky, 0 points, 1 comments]