Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
暂无分享,去创建一个
S. Haverkamp | N. Tanimoto | V. Sothilingam | M. Seeliger | B. Lorenz | C. Wahl-Schott | M. Biel | S. Michalakis | L. Shaltiel | C. Friedburg | M. Preising | I. Audo | C. Hamel | I. Meunier | S. Koch | C. Zeitz | N. Zabouri | M. G. Garrido | Verena Schludi | Marie‐Elise Lancelot | Stefanie C. Krause
[1] N. Tanimoto,et al. Gene therapy restores vision and delays degeneration in the CNGB1(-/-) mouse model of retinitis pigmentosa. , 2012, Human molecular genetics.
[2] J. Ammermüller,et al. The absence of Complexin 3 and Complexin 4 differentially impacts the ON and OFF pathways in mouse retina , 2012, The European journal of neuroscience.
[3] Yingbin Fu,et al. Chemical chaperone TUDCA preserves cone photoreceptors in a mouse model of Leber congenital amaurosis. , 2012, Investigative ophthalmology & visual science.
[4] C. Westall,et al. A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family , 2011, Molecular vision.
[5] Gary Matthews,et al. The diverse roles of ribbon synapses in sensory neurotransmission , 2010, Nature Reviews Neuroscience.
[6] B. Lorenz,et al. Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data. , 2009, Ophthalmology.
[7] U. Wolfrum,et al. Effects of Presynaptic Mutations on a Postsynaptic Cacna1s Calcium Channel Colocalized with Mglur6 at Mouse Photoreceptor Ribbon Synapses , 2008 .
[8] W. Stell,et al. Modified Cav1.4 Expression in the Cacna1fnob2 Mouse Due to Alternative Splicing of an ETn Inserted in Exon 2 , 2008, PloS one.
[9] M. A. Raven,et al. Early afferent signaling in the outer plexiform layer regulates development of horizontal cell morphology , 2008, The Journal of comparative neurology.
[10] A. de la Chapelle,et al. A novel CACNA1F gene mutation causes Aland Island eye disease. , 2007, Investigative ophthalmology & visual science.
[11] C. Wahl-Schott,et al. Switching off calcium-dependent inactivation in l-type calcium channels by an autoinhibitory domain , 2006, Proceedings of the National Academy of Sciences.
[12] B. Migeon. The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases. , 2006, JAMA.
[13] J. Isosomppi,et al. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene , 2006, Journal of Medical Genetics.
[14] J. Heckenlively,et al. The nob2 mouse, a null mutation in Cacna1f: Anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses , 2006, Visual Neuroscience.
[15] Wallace B. Thoreson,et al. Synaptic transmission at retinal ribbon synapses , 2005, Progress in Retinal and Eye Research.
[16] Francois Tremblay,et al. Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina. , 2005, Human molecular genetics.
[17] P. Dearden,et al. A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[18] S. Haverkamp,et al. Impaired opsin targeting and cone photoreceptor migration in the retina of mice lacking the cyclic nucleotide-gated channel CNGA3. , 2005, Investigative ophthalmology & visual science.
[19] E. Mitchell,et al. Clinical manifestations of a unique X‐linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2 , 2005, Clinical & experimental ophthalmology.
[20] E. Gundelfinger,et al. Molecular dissection of the photoreceptor ribbon synapse , 2005, The Journal of cell biology.
[21] K. Yau,et al. Impaired Channel Targeting and Retinal Degeneration in Mice Lacking the Cyclic Nucleotide-Gated Channel Subunit CNGB1 , 2005, The Journal of Neuroscience.
[22] B. Lorenz,et al. Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data , 2004, Graefe's Archive for Clinical and Experimental Ophthalmology.
[23] Aaron M. Beedle,et al. The CACNA1F Gene Encodes an L-Type Calcium Channel with Unique Biophysical Properties and Tissue Distribution , 2004, The Journal of Neuroscience.
[24] C. Wahl-Schott,et al. Functional characterization of the L-type Ca2+ channel Cav1.4alpha1 from mouse retina. , 2004, Investigative ophthalmology & visual science.
[25] J. Le Gargasson,et al. ERGs in female carriers of incomplete Congenital Stationary Night Blindness (I-CSNB) A family report , 2003, Documenta Ophthalmologica.
[26] A. Koschak,et al. Cav1.4α1 Subunits Can Form Slowly Inactivating Dihydropyridine-Sensitive L-Type Ca2+ Channels Lacking Ca2+-Dependent Inactivation , 2003, The Journal of Neuroscience.
[27] Josef Ammermüller,et al. The Presynaptic Active Zone Protein Bassoon Is Essential for Photoreceptor Ribbon Synapse Formation in the Retina , 2003, Neuron.
[28] H. Wässle,et al. Immunocytochemical description of five bipolar cell types of the mouse retina , 2003, The Journal of comparative neurology.
[29] P. Powers,et al. Role of the beta(2) subunit of voltage-dependent calcium channels in the retinal outer plexiform layer. , 2002, Investigative ophthalmology & visual science.
[30] B. Reese,et al. The role of tangential dispersion in retinal mosaic formation , 2002, Progress in Retinal and Eye Research.
[31] C. Grimm,et al. New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis , 2001, Nature Genetics.
[32] K. Boycott,et al. A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants , 2001, Human Genetics.
[33] T. Meitinger,et al. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness , 1998, Nature Genetics.
[34] B. Reese,et al. Clonal boundary analysis in the developing retina using X-inactivation transgenic mosaic mice. , 1998, Seminars in cell & developmental biology.
[35] S K Fisher,et al. Neurite outgrowth from bipolar and horizontal cells after experimental retinal detachment. , 1998, Investigative ophthalmology & visual science.
[36] A. Harvey,et al. Radial and tangential dispersion patterns in the mouse retina are cell-class specific. , 1995, Proceedings of the National Academy of Sciences of the United States of America.
[37] R. Molday,et al. Monoclonal antibodies to rhodopsin: characterization, cross-reactivity, and application as structural probes. , 1983, Biochemistry.
[38] N. Tanimoto,et al. Vision tests in the mouse: Functional phenotyping with electroretinography. , 2009, Frontiers in bioscience.
[39] G. Fishman,et al. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. , 1998, Nature genetics.