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PMID:10611370
| Citation |
Jun, K, Piedras-Rentería, ES, Smith, SM, Wheeler, DB, Lee, SB, Lee, TG, Chin, H, Adams, ME, Scheller, RH, Tsien, RW and Shin, HS (1999) Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit. Proc. Natl. Acad. Sci. U.S.A. 96:15245-50 |
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| Abstract |
The Ca(2+) channel alpha(1A)-subunit is a voltage-gated, pore-forming membrane protein positioned at the intersection of two important lines of research: one exploring the diversity of Ca(2+) channels and their physiological roles, and the other pursuing mechanisms of ataxia, dystonia, epilepsy, and migraine. alpha(1A)-Subunits are thought to support both P- and Q-type Ca(2+) channel currents, but the most direct test, a null mutant, has not been described, nor is it known which changes in neurotransmission might arise from elimination of the predominant Ca(2+) delivery system at excitatory nerve terminals. We generated alpha(1A)-deficient mice (alpha(1A)(-/-)) and found that they developed a rapidly progressive neurological deficit with specific characteristics of ataxia and dystonia before dying approximately 3-4 weeks after birth. P-type currents in Purkinje neurons and P- and Q-type currents in cerebellar granule cells were eliminated completely whereas other Ca(2+) channel types, including those involved in triggering transmitter release, also underwent concomitant changes in density. Synaptic transmission in alpha(1A)(-/-) hippocampal slices persisted despite the lack of P/Q-type channels but showed enhanced reliance on N-type and R-type Ca(2+) entry. The alpha(1A)(-/-) mice provide a starting point for unraveling neuropathological mechanisms of human diseases generated by mutations in alpha(1A). |
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| Keywords |
Animals; Ataxia; Calcium/metabolism; Calcium Channels/deficiency; Calcium Channels/genetics; Calcium Channels, P-Type/metabolism; Calcium Channels, Q-Type/metabolism; Cerebellum/metabolism; Electric Conductivity; Hippocampus/metabolism; Mice; Mice, Knockout; Nerve Tissue Proteins/deficiency; Nerve Tissue Proteins/genetics; Nervous System Diseases/etiology; Purkinje Cells/metabolism; Synaptic Transmission |
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Significance
Annotations
| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
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