SHANK proteins: roles at the synapse and in autism spectrum disorder
P Monteiro, G Feng - Nature Reviews Neuroscience, 2017 - nature.com
Several large-scale genomic studies have supported an association between cases of
autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat …
autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat …
Dual-specificity, tyrosine phosphorylation-regulated kinases (DYRKs) and cdc2-like kinases (CLKs) in human disease, an overview
MF Lindberg, L Meijer - International Journal of Molecular Sciences, 2021 - mdpi.com
Dual-specificity tyrosine phosphorylation-regulated kinases (DYRK1A, 1B, 2-4) and cdc2-
like kinases (CLK1-4) belong to the CMGC group of serine/threonine kinases. These protein …
like kinases (CLK1-4) belong to the CMGC group of serine/threonine kinases. These protein …
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals
Here we conducted a large-scale genetic association analysis of educational attainment in a
sample of approximately 1.1 million individuals and identify 1,271 independent genome …
sample of approximately 1.1 million individuals and identify 1,271 independent genome …
p53 inhibits CRISPR–Cas9 engineering in human pluripotent stem cells
CRISPR/Cas9 has revolutionized our ability to engineer genomes and conduct genome-
wide screens in human cells,–. Whereas some cell types are amenable to genome …
wide screens in human cells,–. Whereas some cell types are amenable to genome …
A standardized social preference protocol for measuring social deficits in mouse models of autism
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social
communication deficits and other behavioral abnormalities. The three-chamber social …
communication deficits and other behavioral abnormalities. The three-chamber social …
Social deficits in Shank3-deficient mouse models of autism are rescued by histone deacetylase (HDAC) inhibition
Haploinsufficiency of the SHANK3 gene is causally linked to autism spectrum disorder
(ASD), and ASD-associated genes are also enriched for chromatin remodelers. Here we …
(ASD), and ASD-associated genes are also enriched for chromatin remodelers. Here we …
[HTML][HTML] Genome-wide screening in human kidney organoids identifies developmental and disease-related aspects of nephrogenesis
R Ungricht, L Guibbal, MC Lasbennes, V Orsini… - Cell Stem Cell, 2022 - cell.com
Human organoids allow the study of proliferation, lineage specification, and 3D tissue
development. Here we present a genome-wide CRISPR screen in induced pluripotent stem …
development. Here we present a genome-wide CRISPR screen in induced pluripotent stem …
Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications
JP Delling, TM Boeckers - Journal of Neurodevelopmental Disorders, 2021 - Springer
Background Autism spectrum disorder (ASD) is a neurodevelopmental condition, which is
characterized by clinical heterogeneity and high heritability. Core symptoms of ASD include …
characterized by clinical heterogeneity and high heritability. Core symptoms of ASD include …
Autism-associated Shank3 is essential for homeostatic compensation in rodent V1
V Tatavarty, AT Pacheco, CG Kuhnle, H Lin… - Neuron, 2020 - cell.com
Mutations in Shank3 are strongly associated with autism spectrum disorders and neural
circuit changes in several brain areas, but the cellular mechanisms that underlie these …
circuit changes in several brain areas, but the cellular mechanisms that underlie these …
SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons
Heterozygous loss-of-function mutations in SHANK2 are associated with autism spectrum
disorder (ASD). We generated cortical neurons from induced pluripotent stem cells derived …
disorder (ASD). We generated cortical neurons from induced pluripotent stem cells derived …