{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T14:34:14Z","timestamp":1781102054121,"version":"3.54.1"},"reference-count":50,"publisher":"National Academy of Sciences","issue":"21","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2005,5,24]]},"abstract":"<jats:p>\n                    Light stimuli produce graded hyperpolarizations of the photoreceptor plasma membrane and an associated decrease in a voltagegated calcium channel conductance that mediates release of glutamate neurotransmitter. The Ca\n                    <jats:sub>v<\/jats:sub>\n                    1.4 channel is thought to be involved in this process. The\n                    <jats:italic>CACNA1F<\/jats:italic>\n                    gene encodes the poreforming subunit of the Ca\n                    <jats:sub>v<\/jats:sub>\n                    1.4 channel and various mutations in\n                    <jats:italic>CACNA1F<\/jats:italic>\n                    cause X-linked incomplete congenital stationary night blindness (CSNB2). The molecular mechanism of the pathology underlying the CSNB2 phenotype remains to be established. Recent clinical investigations of a New Zealand family found a severe visual disorder that has some clinical similarities to, but is clearly distinct from, CSNB2. Here, we report investigations into the molecular mechanism of the pathology of this condition. Molecular genetic analyses identified a previously undescribed nucleotide substitution in\n                    <jats:italic>CACNA1F<\/jats:italic>\n                    that is predicted to encode an isoleucine to threonine substitution at CACNA1F residue 745. The I745T CACNA1F allele produced a remarkable approximately \u201330-mV shift in the voltage dependence of Ca\n                    <jats:sub>v<\/jats:sub>\n                    1.4 channel activation and significantly slower inactivation kinetics in an expression system. These findings imply that substitution of this wild-type residue in transmembrane segment IIS6 may have decreased the energy required to open the channel. Collectively, these findings suggest that a gain-of-function mechanism involving increased Ca\n                    <jats:sub>v<\/jats:sub>\n                    1.4 channel activity is likely to cause the unusual phenotype.\n                  <\/jats:p>","DOI":"10.1073\/pnas.0501907102","type":"journal-article","created":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T20:35:10Z","timestamp":1116275710000},"page":"7553-7558","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":116,"title":["A\n                    <i>CACNA1F<\/i>\n                    mutation identified in an X-linked retinal disorder shifts the voltage dependence of Ca\n                    <sub>v<\/sub>\n                    1.4 channel activation"],"prefix":"10.1073","volume":"102","author":[{"given":"Ariana","family":"Hemara-Wahanui","sequence":"first","affiliation":[{"name":"Biochemistry Department, University of Otago, P.O. Box 56, Dunedin, Aotearoa New Zealand; Institute for Pharmacology and Toxicology, University of Vienna, Althanstrasse 14, A-1090 Wien, Austria; Department of Ophthalmology, University of Auckland, Auckland, Aotearoa New Zealand; Department of Ophthalmology, Auckland Hospital, Auckland, Aotearoa New Zealand; and Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislav","family":"Berjukow","sequence":"additional","affiliation":[{"name":"Biochemistry Department, University of Otago, P.O. Box 56, Dunedin, Aotearoa New Zealand; Institute for Pharmacology and Toxicology, University of Vienna, Althanstrasse 14, A-1090 Wien, Austria; Department of Ophthalmology, University of Auckland, Auckland, Aotearoa New Zealand; Department of Ophthalmology, Auckland Hospital, Auckland, Aotearoa New Zealand; and Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn I.","family":"Hope","sequence":"additional","affiliation":[{"name":"Biochemistry Department, University of Otago, P.O. Box 56, Dunedin, Aotearoa New Zealand; Institute for Pharmacology and Toxicology, University of Vienna, Althanstrasse 14, A-1090 Wien, Austria; Department of Ophthalmology, University of Auckland, Auckland, Aotearoa New Zealand; Department of Ophthalmology, Auckland Hospital, Auckland, Aotearoa New Zealand; and Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter K.","family":"Dearden","sequence":"additional","affiliation":[{"name":"Biochemistry Department, University of Otago, P.O. Box 56, Dunedin, Aotearoa New Zealand; Institute for Pharmacology and Toxicology, University of Vienna, Althanstrasse 14, A-1090 Wien, Austria; Department of Ophthalmology, University of Auckland, Auckland, Aotearoa New Zealand; Department of Ophthalmology, Auckland Hospital, Auckland, Aotearoa New Zealand; and Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-Biao","family":"Wu","sequence":"additional","affiliation":[{"name":"Biochemistry Department, University of Otago, P.O. Box 56, Dunedin, Aotearoa New Zealand; Institute for Pharmacology and Toxicology, University of Vienna, Althanstrasse 14, A-1090 Wien, Austria; Department of Ophthalmology, University of Auckland, Auckland, Aotearoa New Zealand; Department of Ophthalmology, Auckland Hospital, Auckland, Aotearoa New Zealand; and Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Wilson-Wheeler","sequence":"additional","affiliation":[{"name":"Biochemistry Department, University of Otago, P.O. Box 56, Dunedin, Aotearoa New Zealand; Institute for Pharmacology and Toxicology, University of Vienna, Althanstrasse 14, A-1090 Wien, Austria; Department of Ophthalmology, University of Auckland, Auckland, Aotearoa New Zealand; Department of Ophthalmology, Auckland Hospital, Auckland, Aotearoa New Zealand; and Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianne M.","family":"Sharp","sequence":"additional","affiliation":[{"name":"Biochemistry Department, University of Otago, P.O. Box 56, Dunedin, Aotearoa New Zealand; Institute for Pharmacology and Toxicology, University of Vienna, Althanstrasse 14, A-1090 Wien, Austria; Department of Ophthalmology, University of Auckland, Auckland, Aotearoa New Zealand; Department of Ophthalmology, Auckland Hospital, Auckland, Aotearoa New Zealand; and Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Lundon-Treweek","sequence":"additional","affiliation":[{"name":"Biochemistry Department, University of Otago, P.O. Box 56, Dunedin, Aotearoa New Zealand; Institute for Pharmacology and Toxicology, University of Vienna, Althanstrasse 14, A-1090 Wien, Austria; Department of Ophthalmology, University of Auckland, Auckland, Aotearoa New Zealand; Department of Ophthalmology, Auckland Hospital, Auckland, Aotearoa New Zealand; and Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gillian M.","family":"Clover","sequence":"additional","affiliation":[{"name":"Biochemistry Department, University of Otago, P.O. Box 56, Dunedin, Aotearoa New Zealand; Institute for Pharmacology and Toxicology, University of Vienna, Althanstrasse 14, A-1090 Wien, Austria; Department of Ophthalmology, University of Auckland, Auckland, Aotearoa New Zealand; Department of Ophthalmology, Auckland Hospital, Auckland, Aotearoa New Zealand; and Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Charles","family":"Hoda","sequence":"additional","affiliation":[{"name":"Biochemistry Department, University of Otago, P.O. Box 56, Dunedin, Aotearoa New Zealand; Institute for Pharmacology and Toxicology, University of Vienna, Althanstrasse 14, A-1090 Wien, Austria; Department of Ophthalmology, University of Auckland, Auckland, Aotearoa New Zealand; Department of Ophthalmology, Auckland Hospital, Auckland, Aotearoa New Zealand; and Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f6rg","family":"Striessnig","sequence":"additional","affiliation":[{"name":"Biochemistry Department, University of Otago, P.O. Box 56, Dunedin, Aotearoa New Zealand; Institute for Pharmacology and Toxicology, University of Vienna, Althanstrasse 14, A-1090 Wien, Austria; Department of Ophthalmology, University of Auckland, Auckland, Aotearoa New Zealand; Department of Ophthalmology, Auckland Hospital, Auckland, Aotearoa New Zealand; and Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rainer","family":"Marksteiner","sequence":"additional","affiliation":[{"name":"Biochemistry Department, University of Otago, P.O. Box 56, Dunedin, Aotearoa New Zealand; Institute for Pharmacology and Toxicology, University of Vienna, Althanstrasse 14, A-1090 Wien, Austria; Department of Ophthalmology, University of Auckland, Auckland, Aotearoa New Zealand; Department of Ophthalmology, Auckland Hospital, Auckland, Aotearoa New Zealand; and Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen","family":"Hering","sequence":"additional","affiliation":[{"name":"Biochemistry Department, University of Otago, P.O. Box 56, Dunedin, Aotearoa New Zealand; Institute for Pharmacology and Toxicology, University of Vienna, Althanstrasse 14, A-1090 Wien, Austria; Department of Ophthalmology, University of Auckland, Auckland, Aotearoa New Zealand; Department of Ophthalmology, Auckland Hospital, Auckland, Aotearoa New Zealand; and Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion A.","family":"Maw","sequence":"additional","affiliation":[{"name":"Biochemistry Department, University of Otago, P.O. Box 56, Dunedin, Aotearoa New Zealand; Institute for Pharmacology and Toxicology, University of Vienna, Althanstrasse 14, A-1090 Wien, Austria; Department of Ophthalmology, University of Auckland, Auckland, Aotearoa New Zealand; Department of Ophthalmology, Auckland Hospital, Auckland, Aotearoa New Zealand; and Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck, Peter Mayr Strasse 1, A-6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.cellbio.16.1.521"},{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/947"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/940"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1986.01050190071042"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0042-6989(95)00006-L"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0008-4182(00)80031-9"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0042-6989(02)00068-8"},{"key":"e_1_3_2_8_2","first-page":"1595","volume":"43","year":"2002","unstructured":"Ball, S. 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