Publications by authors named "A J A Groffen"
Background: The long-term prognosis of patients with a loss-of-function variant in the cardiac sodium channel gene SCN5A is unknown.
Objective: This study aimed to evaluate the long-term arrhythmic risk in patients with an SCN5A loss-of-function variant to identify predictors of arrhythmic events.
Methods: Probands and family members with (likely) pathogenic SCN5A loss-of-function variants were retrospectively included.
Article Synopsis
- Tomosyns, traditionally thought to inhibit membrane fusion by competing with synaptobrevin-2/VAMP2, actually enhance synaptic vesicle fusion in their absence, leading to stronger synapses.
- A novel mouse model showed that tomosyn-1/2 deficiency results in faster synaptic depression and slower recovery, suggesting an unexpected role in regulating synaptic strength.
- The study indicates that tomosyns bind to synaptobrevin-2/VAMP2 complexes to prevent SNAP-25 association, thus modulating synaptic transmission rather than simply blocking fusion.
Background: Rasal1 is a Ras GTPase-activating protein which contains C2 domains necessary for dynamic membrane association following intracellular calcium elevation. Membrane-bound Rasal1 inactivates Ras signaling through its RasGAP activity, and through such mechanisms has been implicated in regulating various cellular functions in the context of tumors. Although highly expressed in the brain, the contribution of Rasal1 to neuronal development and function has yet to be explored.
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- * Research using a mouse model lacking tomosyn showed that while the number of DCV fusion events remained unchanged, the levels of important DCV cargos like neuropeptide Y and BDNF were significantly reduced, indicating a key role for tomosyns in DCV biogenesis rather than exocytosis.
- * The study found that restoring BDNF levels was possible by re-expressing tomosyn, and suggested that tomosyns are essential for packaging secretory cargo