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Your search keyword '"Silayeva, Liliya"' showing total 2 results
Start Over Author "Silayeva, Liliya" Publisher nature publishing group
2 results on '"Silayeva, Liliya"'

1. The small molecule CLP257 does not modify activity of the K+-Cl- co-transporter KCC2 but does potentiate GABAA receptor activity

Author

Cardarelli, Ross A, Jones, Karen, Pisella, Lucie I, Wobst, Heike J, McWilliams, Lisa J, Sharpe, Paul M, Burnham, Matthew P, Baker, David J, Chudotvorova, Ilona, Guyot, Justine, Silayeva, Liliya, Morrow, Danielle H, Dekker, Niek, Zicha, Stephen, Davies, Paul A, Holenz, Jörg, Duggan, Mark E, Dunlop, John, Mather, Robert J, Wang, Qi, Medina, Igor, Brandon, Nicholas J, Deeb, Tarek Z, and Moss, Stephen J

Subjects
Physiological aspects, Genetic aspects, Research, GABA receptors -- Physiological aspects -- Genetic aspects -- Research, Transport proteins -- Physiological aspects -- Genetic aspects -- Research, Gene expression -- Physiological aspects -- Research
Abstract

Author(s): Ross A Cardarelli [1, 10]; Karen Jones [2, 10]; Lucie I Pisella [3, 4, 10]; Heike J Wobst [1, 5]; Lisa J McWilliams [6]; Paul M Sharpe [2]; Matthew [...]

Published
2017
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2. Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.

Author

Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, Awadalla P, Nikbakht H, Majewski J, Cossette P, Deeb TZ, Moss SJ, Medina I, and Rouleau GA

Subjects
Action Potentials, Alleles, Animals, Case-Control Studies, Cell Line, Chlorides metabolism, Gene Frequency, Genetic Variation, Hippocampus metabolism, Humans, Models, Molecular, Mutation, Phosphorylation, Protein Conformation, Protein Interaction Domains and Motifs, Pyramidal Cells metabolism, Quebec, Rats, Symporters chemistry, K Cl- Cotransporters, Epilepsy, Generalized genetics, Epilepsy, Generalized metabolism, Symporters genetics, Symporters metabolism
Abstract

The KCC2 cotransporter establishes the low neuronal Cl(-) levels required for GABAA and glycine (Gly) receptor-mediated inhibition, and KCC2 deficiency in model organisms results in network hyperexcitability. However, no mutations in KCC2 have been documented in human disease. Here, we report two non-synonymous functional variants in human KCC2, R952H and R1049C, exhibiting clear statistical association with idiopathic generalized epilepsy (IGE). These variants reside in conserved residues in the KCC2 cytoplasmic C-terminus, exhibit significantly impaired Cl(-)-extrusion capacities resulting in less hyperpolarized Gly equilibrium potentials (EG ly), and impair KCC2 stimulatory phosphorylation at serine 940, a key regulatory site. These data describe a novel KCC2 variant significantly associated with a human disease and suggest genetically encoded impairment of KCC2 functional regulation may be a risk factor for the development of human IGE., (© 2014 The Authors.)

Published
2014
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