[HTML][HTML] Overlap between epilepsy and neurodevelopmental disorders: insights from clinical and genetic studies
H Shimizu, Y Morimoto, N Yamamoto, T Tayama…�- Epilepsy�…, 2022 - ncbi.nlm.nih.gov
Patients with epilepsy often experience comorbid cognitive and behavioral problems. These
problems are often caused by neurodevelopmental disorders such as autism spectrum�…
problems are often caused by neurodevelopmental disorders such as autism spectrum�…
[HTML][HTML] CRISPR-mediated activation of autism gene Itgb3 restores cortical network excitability via mGluR5 signaling
F Jaudon, A Thalhammer, L Zentilin…�- …�Therapy-Nucleic Acids, 2022 - cell.com
Many mutations in autism spectrum disorder (ASD) affect a single allele, indicating a key
role for gene dosage in ASD susceptibility. Recently, haplo-insufficiency of ITGB3, the gene�…
role for gene dosage in ASD susceptibility. Recently, haplo-insufficiency of ITGB3, the gene�…
[HTML][HTML] The actin-modulating protein synaptopodin mediates long-term survival of dendritic spines
K Yap, A Drakew, D Smilovic, M Rietsche, MH Paul…�- Elife, 2020 - elifesciences.org
Large spines are stable and important for memory trace formation. The majority of large
spines also contains synaptopodin (SP), an actin-modulating and plasticity-related protein�…
spines also contains synaptopodin (SP), an actin-modulating and plasticity-related protein�…
[HTML][HTML] De novo missense variants disrupting protein–protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell�…
Background Whole-exome sequencing studies have been useful for identifying genes that,
when mutated, affect risk for autism spectrum disorder (ASD). Nonetheless, the association�…
when mutated, affect risk for autism spectrum disorder (ASD). Nonetheless, the association�…
[HTML][HTML] Directly reprogrammed fragile X syndrome dorsal forebrain precursor cells generate cortical neurons exhibiting impaired neuronal maturation
N Edwards, C Combrinck…�- Frontiers in Cellular�…, 2023 - frontiersin.org
Introduction The neurodevelopmental disorder fragile X syndrome (FXS) is the most
common monogenic cause of intellectual disability associated with autism spectrum�…
common monogenic cause of intellectual disability associated with autism spectrum�…
[HTML][HTML] Emerging Role of m6 A Methylome in Brain Development: Implications for Neurological Disorders and Potential Treatment
Dynamic modification of RNA affords proximal regulation of gene expression triggered by
non-genomic or environmental changes. One such epitranscriptomic alteration in RNA�…
non-genomic or environmental changes. One such epitranscriptomic alteration in RNA�…
[HTML][HTML] Mir324 knockout regulates the structure of dendritic spines and impairs hippocampal long-term potentiation
EV Parkins, DH Brager, JK Rymer, JM Burwinkel…�- Scientific Reports, 2023 - nature.com
MicroRNAs are an emerging class of synaptic regulators. These small noncoding RNAs post-
transcriptionally regulate gene expression, thereby altering neuronal pathways and shaping�…
transcriptionally regulate gene expression, thereby altering neuronal pathways and shaping�…
[HTML][HTML] FMRP activity and control of Csw/SHP2 translation regulate MAPK-dependent synaptic transmission
Noonan syndrome (NS) and NS with multiple lentigines (NSML) cognitive dysfunction are
linked to SH2 domain-containing protein tyrosine phosphatase-2 (SHP2) gain-of-function�…
linked to SH2 domain-containing protein tyrosine phosphatase-2 (SHP2) gain-of-function�…
A loss-of-function variant in SUV39H2 identified in autism-spectrum disorder causes altered H3K9 trimethylation and dysregulation of protocadherin β-cluster genes�…
Recent evidence has documented the potential roles of histone-modifying enzymes in
autism-spectrum disorder (ASD). Aberrant histone H3 lysine 9 (H3K9) dimethylation�…
autism-spectrum disorder (ASD). Aberrant histone H3 lysine 9 (H3K9) dimethylation�…
Early and late corrections in mouse models of autism spectrum disorder
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social
and repetitive symptoms. A key feature of ASD is early-life manifestations of symptoms�…
and repetitive symptoms. A key feature of ASD is early-life manifestations of symptoms�…