Neuroscience
- The late-onset Alzheimer’s disease risk factor RHBDF2 is a modifier of microglial TREM2 proteolysis
This study demonstrates that the Alzheimer’s disease risk factor iRhom2/RHBDF2 is a modifier of microglial TREM2 proteolysis and establishes ADAM17 as a physiological TREM2 protease in microglia.
- Axonal transport of CHMP2b is regulated by kinesin-binding protein and disrupted by CHMP2bintron5
This study investigates the axonal trafficking of the ESCRT-III protein CHMP2b and shows how the frontotemporal dementia–causative CHMP2bintron5 mutation disrupts its transport and synaptic localization.
- Unraveling ADHD: genes, co-occurring traits, and developmental dynamics
In this study, we identify genes putatively causal for ADHD and show how their biological pathways link to co-occurring traits and biomarkers in a tissue- and time-dependent manner.
- Canonical and non-canonical PRC1 differentially contribute to regulation of neural stem cell fate
Epigenetic regulation affects the capacity of stem cells to proliferate and differentiate, with canonical PRC1 being particularly important for neural stem cell fate.
- Defective glycosylation and ELFN1 binding of mGluR6 congenital stationary night blindness mutants
This study demonstrates that several night blindness mutations in a retinal postsynaptic glutamate receptor lead to altered post-translational modifications and failure to bind to a presynaptic partner.
- RuvBL1/2 reduce toxic dipeptide repeat protein burden in multiple models of C9orf72-ALS/FTD
Enhancing RuvBL1, but particularly RuvBL2 expression, reduces toxic dipeptide repeat proteins in vitro and in vivo models of C9orf72-linked ALS/FTD, suggesting that modulating RuvBL1/2 levels could be a promising therapeutic approach for C9ALS/FTD.
- Correction: Microglia are essential for tissue contraction in wound closure after brain injury in zebrafish larvae
Although in humans, the brain fails to heal after an injury, young zebrafish are able to restore tissue structural integrity in less than 24 h, thanks to the mechanical action of microglia.
- Vascular dysfunction is at the onset of oxaliplatin-induced peripheral neuropathy symptoms in mice
This study identifies blood-nerve barrier and vascular contraction dysfunction in nerve blood vessels as contributors to oxaliplatin-induced peripheral neuropathy (OIPN), and demonstrates that vasodilators can alleviate neuropathic symptoms and nerve hypoxia, highlighting the importance of vascular health in OIPN management.
- Brain and behavioural anomalies caused by Tbx1 haploinsufficiency are corrected by vitamin B12
The study shows that mice that are a model of 22q11.2 deletion syndrome have abnormal brain metabolism, and it identifies potential biomarkers of metabolic brain disease in 22q11.2DS patients.
- Pathogenic LRRK2 mutations cause loss of primary cilia and Neurturin in striatal parvalbumin interneurons
Parvalbumin interneurons in the dorsal striatum lose primary cilia in mice and humans harboring Parkinson’s disease–associated, activating mutations in LRRK2 kinase, resulting in loss of hedgehog signaling and decreased production of neuroprotective Neurturin to support dopamine neurons.