Nuria Martin Flores, Marina Podpolny ... Patricia C Salinas
The Wnt antagonist DKK3 is a key regulator of excitatory and inhibitory synapses, and its downregulation in the hippocampus restores synaptic connectivity and memory in an Alzheimer's disease mouse model.
An atlas of cortical expression for 20,781 genes in the adult human brain, validated against multiscale datasets, from neuroimaging measures of structure and function to molecular cell and layer markers.
Artemis Koumoundourou, Märt Rannap ... Stefan Britsch
Molecular genetic, cell culture as well as electrophysiological analyses reveal a C1ql2/Neurexin3(25b+)-dependent molecular pathway through which Bcl11b controls critical functions of adult hippocampal mossy fiber synapses.
Fanny Pouyet, Simon Aeschbacher ... Laurent Excoffier
Background selection and GC-biased gene conversion impact the human genome to a much larger extent than previously recognized in low and high recombination rate regions, respectively.
Leveraging the X-LD method for estimating inter-chromosomal linkage disequilibrium in the human genome uncovers a universal extended LD pattern, consistent with observations in 1KG cohorts.
Two novel mutations in the GRIN2B gene reduce glutamate affinity by >1000-fold, reduce the receptors proton-sensitivity, and exert a dominant-negative effect over receptors in neurons.
A human Orai1 mutation linked to tubular myopathy activates Orai1 channels independently of STIM1 and unmasks calcium-dependent inactivation of Orai1 channels.
DAZL promotes male fertility by enhancing the protein expression of thousands of genes to facilitate expansion and differentiation of transit-amplifying spermatogonia in the testes.