[HTML][HTML] A brain atlas of synapse protein lifetime across the mouse lifespan

E Bulovaite, Z Qiu, M Kratschke, A Zgraj, DG Fricker… - Neuron, 2022 - cell.com
The lifetime of proteins in synapses is important for their signaling, maintenance, and
remodeling, and for memory duration. We quantified the lifetime of endogenous PSD95, an …

Cataloguing and selection of mRNAs localized to dendrites in neurons and regulated by RNA-binding proteins in RNA granules

R Ohashi, N Shiina - Biomolecules, 2020 - mdpi.com
Spatiotemporal translational regulation plays a key role in determining cell fate and function.
Specifically, in neurons, local translation in dendrites is essential for synaptic plasticity and …

[HTML][HTML] The genetic basis of spatial cognitive variation in a food-caching bird

CL Branch, GA Semenov, DN Wagner, BR Sonnenberg… - Current Biology, 2022 - cell.com
Spatial cognition is used by most organisms to navigate their environment. Some species
rely particularly heavily on specialized spatial cognition to survive, suggesting that a …

The palmitoyl acyltransferase ZDHHC14 controls Kv1-family potassium channel clustering at the axon initial segment

SS Sanders, LM Hernandez, H Soh, S Karnam… - Elife, 2020 - elifesciences.org
The palmitoyl acyltransferase (PAT) ZDHHC14 is highly expressed in the hippocampus and
is the only PAT predicted to bind Type-I PDZ domain-containing proteins. However …

A mild impairment in reversal learning in a bowl‐digging substrate deterministic task but not other cognitive tests in the Dlg2+/− rat model of genetic risk for psychiatric …

S Griesius, S Waldron, KA Kamenish… - Genes, Brain and …, 2023 - Wiley Online Library
Variations in the Dlg2 gene have been linked to increased risk for psychiatric disorders,
including schizophrenia, autism spectrum disorders, intellectual disability, bipolar disorder …

A DLG2 deficiency in mice leads to reduced sociability and increased repetitive behavior accompanied by aberrant synaptic transmission in the dorsal striatum

T Yoo, SG Kim, SH Yang, H Kim, E Kim, SY Kim - Molecular Autism, 2020 - Springer
Background DLG2, also known as postsynaptic density protein-93 (PSD-93) or chapsyn-
110, is an excitatory postsynaptic scaffolding protein that interacts with synaptic surface …

Reduced expression of the psychiatric risk gene DLG2 (PSD93) impairs hippocampal synaptic integration and plasticity

S Griesius, C O'Donnell, S Waldron… - …, 2022 - nature.com
Copy number variants indicating loss of function in the DLG2 gene have been associated
with markedly increased risk for schizophrenia, autism spectrum disorder, and intellectual …

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

CA Steward, J Roovers, MM Suner, JM Gonzalez… - npj Genomic …, 2019 - nature.com
The developmental and epileptic encephalopathies (DEE) are a group of rare, severe
neurodevelopmental disorders, where even the most thorough sequencing studies leave 60 …

Actionable genomics in clinical practice: paradigmatic case reports of clinical and therapeutic strategies based upon genetic testing

MG Butler, D Moreno-De-Luca, AM Persico - Genes, 2022 - mdpi.com
In clinical settings, the information provided by genetic testing can explain the triggers and
processes underlying clinical presentations, such as neurodevelopmental disorders, in up to …

Diagnostic yield of microarrays in individuals with non‐syndromic developmental delay and intellectual disability

S Oğuz, UE Arslan, PÖŞ Kiper… - Journal of …, 2021 - Wiley Online Library
Background Intellectual disability (ID), or developmental delay (DD) when the individual is
yet under 5 years of age, is evident before 18 years of age and is characterised by …