Proteomic and phosphoproteomic analyses reveal dysregulated pathways linked to axonal development and synaptic function.
doi.org/10.1111/epi....
#epilepsy #ILAE #epilepsia #BRSK1 #lossoffunction #neurodevelopmentaldisorders
doi.org/10.1111/epi....
#epilepsy #ILAE #epilepsia #BRSK1 #lossoffunction #neurodevelopmentaldisorders
October 9, 2025 at 4:31 PM
Proteomic and phosphoproteomic analyses reveal dysregulated pathways linked to axonal development and synaptic function.
doi.org/10.1111/epi....
#epilepsy #ILAE #epilepsia #BRSK1 #lossoffunction #neurodevelopmentaldisorders
doi.org/10.1111/epi....
#epilepsy #ILAE #epilepsia #BRSK1 #lossoffunction #neurodevelopmentaldisorders
@metabolon.bsky.social , @estbiobank.bsky.social, @mdpiopenaccess.bsky.social, #EstonianBiobank, #Genetics, #Metabolomics, #Sequencing, #RareGeneticVariants, #DrugTargets #LossOfFunction, #HumanKnockOut. 🧬🧬🧬 2/13
May 13, 2025 at 5:51 PM
This study identified a novel #EssentialTremor (ET)-associated gene & and showed that SLC38A6 #LossOfFunction variants result in ET symptoms. #medsky
#STTT #OpenAccess: doi.org/10.1038/s413...
#STTT #OpenAccess: doi.org/10.1038/s413...
Loss-of-function variations in solute carrier family 38 member 6 are associated with essential tremor - Signal Transduction and Targeted Therapy
Signal Transduction and Targeted Therapy - Loss-of-function variations in solute carrier family 38 member 6 are associated with essential tremor
doi.org
September 18, 2025 at 5:31 AM
This study identified a novel #EssentialTremor (ET)-associated gene & and showed that SLC38A6 #LossOfFunction variants result in ET symptoms. #medsky
#STTT #OpenAccess: doi.org/10.1038/s413...
#STTT #OpenAccess: doi.org/10.1038/s413...