Journal article
Y. Rzhepetskyy, J. Lazniewska, I. Blesneac, R. Pamphlett, N. Weiss
Channels, 2016
Channels, 2016
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APA
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Rzhepetskyy, Y., Lazniewska, J., Blesneac, I., Pamphlett, R., & Weiss, N. (2016). CACNA1H missense mutations associated with amyotrophic lateral sclerosis alter Cav3.2 T-type calcium channel activity and reticular thalamic neuron firing. Channels.
Chicago/Turabian
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Rzhepetskyy, Y., J. Lazniewska, I. Blesneac, R. Pamphlett, and N. Weiss. “CACNA1H Missense Mutations Associated with Amyotrophic Lateral Sclerosis Alter Cav3.2 T-Type Calcium Channel Activity and Reticular Thalamic Neuron Firing.” Channels (2016).
MLA
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Rzhepetskyy, Y., et al. “CACNA1H Missense Mutations Associated with Amyotrophic Lateral Sclerosis Alter Cav3.2 T-Type Calcium Channel Activity and Reticular Thalamic Neuron Firing.” Channels, 2016.
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@article{y2016a,
title = {CACNA1H missense mutations associated with amyotrophic lateral sclerosis alter Cav3.2 T-type calcium channel activity and reticular thalamic neuron firing},
year = {2016},
journal = {Channels},
author = {Rzhepetskyy, Y. and Lazniewska, J. and Blesneac, I. and Pamphlett, R. and Weiss, N.}
}
Abstract
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. In a recent study by Steinberg and colleagues, 2 recessive missense mutations were identified in the Cav3.2 T-type calcium channel gene (CACNA1H), in a family with an affected proband (early onset, long duration ALS) and 2 unaffected parents. We have introduced and functionally characterized these mutations using transiently expressed human Cav3.2 channels in tsA-201 cells. Both of these mutations produced mild but significant changes on T-type channel activity that are consistent with a loss of channel function. Computer modeling in thalamic reticular neurons suggested that these mutations result in decreased neuronal excitability of thalamic structures. Taken together, these findings implicate CACNA1H as a susceptibility gene in amyotrophic lateral sclerosis.
