A position paper by Verhage & Sorensen published in Neuron on June 19 proposes to unify syndromes caused by mutations in eight core components of the synaptic secretion machinery, based on common etiology and mechanism
Alzheimer Nederland awarded a €65 000 fellowship to Lill Eva Johansen for research on the effect of Abca7 mutations associated with Alzheimer’s disease. The work will be performed in human brain cells derived from stem cells that are gene edited using CRISPR technology.
The STXBP1 team of FGA obtained funding from the 2019 Million Dollar Bike Ride event, organized by the Orphan Disease Center in the US, for a high throughput screen to identify new therapeutic interventions for STXBP1 patients.
Researchers at CNCR-FGA and two Italian institutes describe the first two patients with a homozygous STXBP1 mutation. Opposite to known mutations, this mutation increases synaptic transmission. The study is published in the leading journal Brain.
Claudia Persoon (CNCR-FGA) and colleagues identified RAB3 and RIM1/2 as essential factors for neuromodulator secretion from dense core vesicles in mammalian neurons. This study is now published in Neuron.
CNCR organized, together with new UMCA professor Hilgo Bruining, a colloquium at the Royal Academy bringing together world leaders to discuss neurodevelopmental disorders and science-based intervention for individual patients.
A study performed by PhD student Vera Wiersma (FGA), from the team of Wiep Scheper, and colleagues reveals that neurons develop granulovacuolar degeneration bodies in response to tau pathology. This collaborative effort was published in Acta Neuropathologica.
In this study Marinka Brouwer (FGA) shows that adhesion molecule SALM1 binds an intracellular protein complex via one domain and organizes synapse development via another. The study was a collaboration between FGA and MCN.