Publication: Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation
Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation
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Wycisk, K. A., Budde, B., Feil, S., et al, Buzzi, F., Neidhardt, J., Glaus, E., Nürnberg, P., & Berger, W. (2006). Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Investigative Ophthalmology & Visual Science, 47(8), 3523–3530. https://doi.org/10.1167/iovs.06-0271
Abstract
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PURPOSE: In a spontaneous mutant substrain of C57BL/10 mice, severely affected retinal ribbon-type synapses have been described. The retinopathy was accompanied by a substantial loss in the activities of the second-order neurons. Rod photoreceptor responses were maintained with reduced amplitude, whereas cone activities were absent. This study was conducted to identify the genetic defect underlying this hitherto unknown autosomal recessive cone-rod dysfunction. METHODS: Genome-wide linkage analysis and screening of positional candidat
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- Wycisk, K A
- Budde, B
- Feil, S
- Buzzi, F
- Neidhardt, J
- Glaus, E
- Nürnberg, P
- Berger, W
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Wycisk, K. A., Budde, B., Feil, S., et al, Buzzi, F., Neidhardt, J., Glaus, E., Nürnberg, P., & Berger, W. (2006). Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Investigative Ophthalmology & Visual Science, 47(8), 3523–3530. https://doi.org/10.1167/iovs.06-0271