Alternative splicing of AMPA receptor subunits: regulation in clonal cell lines

Christnacher, Alexandra; Sommer, Bernd

doi:10.1016/0014-5793(95)01016-8

Cited by 4 publications

(1 citation statement)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The human sympathoadrenal cell line SH-SY5Y can be differentiated to a neuronal phenotype with the use of retinoic acid; these cell lines express subunits GluR1-GluR4 of AMPAR. 12 Using neuronally differentiated SH-SY5Y cells and siRNA, we knocked down FRRS1L, leading to reduced FRRS1L amounts analogous to those seen in affected cells ( Figure 4A). We next performed a series of patch-clamp experiments with a focus on AMPA-mediated currents.…”

mentioning

confidence: 96%

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

Madeo

Stewart

Sun

et al. 2016

The American Journal of Human Genetics

View full text Add to dashboard Cite

Glutamatergic neurotransmission governs excitatory signaling in the mammalian brain, and abnormalities of glutamate signaling have been shown to contribute to both epilepsy and hyperkinetic movement disorders. The etiology of many severe childhood movement disorders and epilepsies remains uncharacterized. We describe a neurological disorder with epilepsy and prominent choreoathetosis caused by biallelic pathogenic variants in FRRS1L, which encodes an AMPA receptor outer-core protein. Loss of FRRS1L function attenuates AMPA-mediated currents, implicating chronic abnormalities of glutamatergic neurotransmission in this monogenic neurological disease of childhood.

show abstract

mentioning

confidence: 96%