Neuroscience
- A genetic screen to uncover mechanisms underlying lipid transfer protein function at membrane contact sites
A genetic screen in Drosophila photoreceptors uncovers multiple regulators of lipid transfer function and endoplasmic reticulum–plasma membrane contact sites.
- Pip5k1γ regulates axon formation by limiting Rap1 activity
Pip5k1γ is shown to regulate axon formation as a negative feedback signal. Impairing its function or manipulating membrane tension by osmotic shock induces the formation of supernumerary axons by hyper-activation of C3G and Rap1.
- Lipotype acquisition during neural development is not recapitulated in stem cell–derived neurons
We report a time-resolved resource of lipid molecule abundance across brain development. Using the resource as a reference, we find that stem cell–derived neurons do not acquire a neural lipotype in vitro, unless supplemented with adequate metabolic precursors.
- A comparative study of structural variant calling in WGS from Alzheimer’s disease families
We developed a flexible protocol to generate a high-quality deletion call set and a truth set of Sanger sequencing–validated deletions with precise breakpoints between 1 and 17,000 bp from whole-genome sequencing data in multiplex families with Alzheimer’s disease.
- Knockout of PA200 improves proteasomal degradation and myelination in a proteotoxic neuropathy
Proteasome Activator 200 is upregulated in a neuropathy model in which protein degradation by the proteasome is impaired. Knocking out PA200 unexpectedly rescued proteostasis and prevented neuropathy.
- Absence of the RING domain in MID1 results in patterning defects in the developing human brain
Molecular and cellular phenotyping of human brain organoids carrying various MID1 mutations reveals an unexpected role of the composition of the MID1 isoform pool during early patterning processes.
- Pridopidine subtly ameliorates motor skills in a mouse model for vanishing white matter
Assessment of the therapeutic efficacy of 4-PBA, TUDCA, and pridopidine in a vanishing white matter mouse model shows that only pridopidine subtly ameliorates motor skills.
- IMPA1 dependent regulation of phosphatidylinositol 4,5-bisphosphate and calcium signalling by lithium
This study demonstrates that lithium that is used to treat bipolar disorder acts via IMPA1 to regulate calcium signalling and neuronal excitability.
- Characterization of Na+ currents regulating intrinsic excitability of optic tectal neurons
This study examines how developing optic tectal neurons adapt their intrinsic excitability. Changes in Nav 1.1 and 1.6 expressions correlate with changes in intrinsic excitability, whereas dynamic regulation of Nav1.6 is central for intrinsic plasticity and normal sensory circuit development.
- High-resolution analysis of bound Ca2+ in neurons and synapses
The amount of bound Ca2+ in neurons correlates significantly to the intensity of markers for GABAergic pre-synapse and glutamatergic post-synapses, and negatively to pre-synaptic activity.