Automated Author Profile

Schafer, William R.

MRC Laboratory of Molecular Biology

Current S-Index

1.8

Sum of Dataset Indices for all datasets

Average Dataset Index per Dataset

0.9

Average Dataset Index per dataset

Total Datasets

2

Total datasets for this author

Average FAIR Score

82.7%

Average FAIR Score per dataset

Total Citations

1

Total citations to the author's datasets

Total Mentions

0

Total mentions of the author's datasets

S-Index Interpretation

S-Index Over Time

Cumulative Citations Over Time

Cumulative Mentions Over Time

Datasets

Data from: EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling

AbstractNeurons throughout the mammalian brain possess non-motile cilia, organelles with varied functions in sensory physiology and cellular signaling, yet their roles in these neurons are poorly understood. To shed light into their functions, we studied EFHC1, an evolutionarily conserved protein required for motile cilia function and linked to a common form of inherited epilepsy in humans, juvenile myoclonic epilepsy (JME). We demonstrate that C. elegans EFHC1 functions within specialized non-motile mechanosensory cilia, where it regulates neuronal activation and dopamine signaling. EFHC1 also localizes at the synapse, where it further modulates dopamine signaling in cooperation with the orthologue of an R-type voltage-gated calcium channel. Our findings unveil a previously undescribed dual-regulation of neuronal excitability at sites of neuronal sensory input (cilium) and neuronal output (synapse). Such a distributed regulatory mechanism may be essential for establishing neuronal activation thresholds under physiological conditions, and when impaired, may represent a novel pathomechanism for epilepsy.

Authors

  • Loucks, Catrina M. ;
  • Park, Kwangjin ;
  • Walker, Denise S. ;
  • McEwan, Andrea H. ;
  • Timbers, Tiffany A. ;
  • Ardiel, Evan L. ;
  • Grundy, Laura J. ;
  • Li, Chunmei ;
  • Johnson, Jacque-Lynne ;
  • Kennedy, Julie ;
  • Blacque, Oliver E. ;
  • Schafer, William R. ;
  • Rankin, Catharine H. ;
  • Leroux, Michel R.
0 Citations0 Mentions88% FAIR1.0 Dataset Index
10.5683/sp2/lbj5hf2021

Data from: EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling (Version: 1)

Neurons throughout the mammalian brain possess non-motile cilia, organelles with varied functions in sensory physiology and cellular signaling, yet their roles in these neurons are poorly understood. To shed light into their functions, we studied EFHC1, an evolutionarily conserved protein required for motile cilia function and linked to a common form of inherited epilepsy in humans, juvenile myoclonic epilepsy (JME). We demonstrate that C. elegans EFHC1 functions within specialized non-motile mechanosensory cilia, where it regulates neuronal activation and dopamine signaling. EFHC1 also localizes at the synapse, where it further modulates dopamine signaling in cooperation with the orthologue of an R-type voltage-gated calcium channel. Our findings unveil a previously undescribed dual-regulation of neuronal excitability at sites of neuronal sensory input (cilium) and neuronal output (synapse). Such a distributed regulatory mechanism may be essential for establishing neuronal activation thresholds under physiological conditions, and when impaired, may represent a novel pathomechanism for epilepsy.

Authors

  • Loucks, Catrina M. ;
  • Park, Kwangjin ;
  • Walker, Denise S. ;
  • McEwan, Andrea H. ;
  • Timbers, Tiffany A. ;
  • Ardiel, Evan L. ;
  • Grundy, Laura J. ;
  • Li, Chunmei ;
  • Johnson, Jacque-Lynne ;
  • Kennedy, Julie ;
  • Blacque, Oliver E. ;
  • Schafer, William R. ;
  • Rankin, Catharine H. ;
  • Leroux, Michel R.
1 Citation0 Mentions77% FAIR0.8 Dataset Index
10.5061/dryad.bb46h5s2019