{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T15:15:09Z","timestamp":1790176509238,"version":"4.1.0"},"reference-count":36,"publisher":"Society for Neuroscience","issue":"1","license":[{"start":{"date-parts":[[2005,7,5]],"date-time":"2005-07-05T00:00:00Z","timestamp":1120521600000},"content-version":"vor","delay-in-days":181,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Neurosci."],"published-print":{"date-parts":[[2005,1,5]]},"abstract":"<jats:p>\n                    Mutations in the\n                    <jats:italic>CACNA1F<\/jats:italic>\n                    gene (voltage-dependent L-type calcium channel \u03b11F subunit) encoding retinal Ca\n                    <jats:sub>v<\/jats:sub>\n                    1.4 L-type Ca\n                    <jats:sup>2+<\/jats:sup>\n                    channels cause X-linked recessive congenital stationary night blindness type 2 (CSNB2). Many of them are predicted to yield nonfunctional channels. Complete loss of Ca\n                    <jats:sub>v<\/jats:sub>\n                    1.4 function is therefore regarded as a pathogenetic mechanism for the impaired signaling from photoreceptors to second-order retinal neurons. We investigated the functional consequences of CSNB2 missense mutations S229P, G369D, and L1068P and the C-terminal truncation mutant W1440X.\n                  <\/jats:p>\n                  <jats:p>\n                    After expression in\n                    <jats:italic>Xenopus laevis<\/jats:italic>\n                    oocytes or human embryonic kidney tsA-201 cells, inward Ca\n                    <jats:sup>2+<\/jats:sup>\n                    current (\n                    <jats:italic>I<\/jats:italic>\n                    <jats:sub>Ca<\/jats:sub>\n                    ) and inward Ba\n                    <jats:sup>2+<\/jats:sup>\n                    current (\n                    <jats:italic>I<\/jats:italic>\n                    <jats:sub>Ba<\/jats:sub>\n                    ) could be recorded from mutations G369D and L1068P. G369D shifted the half-maximal voltage for channel activation (\n                    <jats:italic>V<\/jats:italic>\n                    <jats:sub>0.5,act<\/jats:sub>\n                    ) significantly to more negative potentials (&gt;11 mV), slowed inactivation, and removed Ca\n                    <jats:sup>2+<\/jats:sup>\n                    -dependent inactivation. The L1068P mutant yielded currents only in the presence of the channel activator BayK8644. Currents (\n                    <jats:italic>I<\/jats:italic>\n                    <jats:sub>Ba<\/jats:sub>\n                    ) inactivated faster than wild type (WT) and recovered more slowly from inactivation (\n                    <jats:italic>I<\/jats:italic>\n                    <jats:sub>Ba<\/jats:sub>\n                    and\n                    <jats:italic>I<\/jats:italic>\n                    <jats:sub>Ca<\/jats:sub>\n                    ). No channel activity could be measured for mutants S229P and W1440X after oocyte expression. No W1440X \u03b11 protein was detected after expression in tsA-201 cells, whereas S229P (as well as G369D and L1068P) \u03b11 subunits were expressed at levels indistinguishable from WT (\n                    <jats:italic>n<\/jats:italic>\n                    = 3).\n                  <\/jats:p>\n                  <jats:p>\n                    Our data provide unequivocal evidence that CSNB2 missense mutations can induce severe changes in Ca\n                    <jats:sub>v<\/jats:sub>\n                    1.4 function, which may decrease (L1068P and S229P) or even increase (G369D) channel activity. The lower activation range of G369D can explain the reduced dynamic range of photoreceptor signaling. Moreover, we demonstrate that loss of channel function of one (L1068P) CSNB2 mutation can be rescued by a Ca\n                    <jats:sup>2+<\/jats:sup>\n                    channel activator.\n                  <\/jats:p>","DOI":"10.1523\/jneurosci.3054-04.2005","type":"journal-article","created":{"date-parts":[[2005,1,5]],"date-time":"2005-01-05T13:53:19Z","timestamp":1104933199000},"page":"252-259","source":"Crossref","is-referenced-by-count":75,"title":["Congenital Stationary Night Blindness Type 2 Mutations S229P, G369D, L1068P, and W1440X Alter Channel Gating or Functional Expression of Ca\n                    <sub>v<\/sub>\n                    1.4 L-type Ca\n                    <sup>2+<\/sup>\n                    Channels"],"prefix":"10.1523","volume":"25","author":[{"given":"Jean-Charles","family":"Hoda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Zaghetto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Koschak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f6rg","family":"Striessnig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"393","published-online":{"date-parts":[[2005,1,5]]},"reference":[{"key":"2023041303102114000_25.1.252.1","first-page":"1595","volume":"43","year":"2002","journal-title":"Invest Ophthalmol Vis 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