{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T11:30:44Z","timestamp":1789903844333,"version":"4.0.1"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2005,2,8]],"date-time":"2005-02-08T00:00:00Z","timestamp":1107820800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Neuropathol"],"published-print":{"date-parts":[[2005,4]]},"DOI":"10.1007\/s00401-004-0970-8","type":"journal-article","created":{"date-parts":[[2005,2,7]],"date-time":"2005-02-07T15:20:59Z","timestamp":1107789659000},"page":"393-399","source":"Crossref","is-referenced-by-count":29,"title":["OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain"],"prefix":"10.1007","volume":"109","author":[{"given":"Stefanie","family":"Bette","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Schlaszus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Wissinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Meyermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Mittelbronn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2005,2,8]]},"reference":[{"key":"CR1","doi-asserted-by":"crossref","first-page":"1667","DOI":"10.1167\/iovs.03-1093","volume":"45","author":"Aijaz","year":"2004","unstructured":"Aijaz S, Erskine L, Jeffery G, Bhattacharya SS, Votruba M (2004) Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer. Invest Ophthalmol Vis Sci 45:1667\u20131673","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"CR2","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/79944","volume":"26","author":"Alexander","year":"2000","unstructured":"Alexander C, Votruba M, Pesch UEA, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B (2000) OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 26:211\u2013215","journal-title":"Nat Genet"},{"key":"CR3","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/79936","volume":"26","author":"Delettre","year":"2000","unstructured":"Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E, Astarie-Dequeker C, Lasquellec L, Arnaud B, Ducommun B, Kaplan J, Hamel CP (2000) Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 26:207\u2013210","journal-title":"Nat Genet"},{"key":"CR4","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1007\/s00439-001-0633-y","volume":"109","author":"Delettre","year":"2001","unstructured":"Delettre C, Griffoin JM, Kaplan J, Dollfus H, Lorenz B, Faivre L, Lenaers G, Belenguer P, Hamel CP (2001) Mutation spectrum and splicing variants in the OPA1 gene. Hum Genet 109:584\u2013591","journal-title":"Hum Genet"},{"key":"CR5","first-page":"545","volume":"65","author":"Gernet","year":"1964","unstructured":"Gernet H (1964) Heredit\u00e4re Opticusatrophie in Kombination mit Taubheit. Ber Zusammenkunft Dtsch Opthalmol Ges 65:545\u2013547","journal-title":"Ber Zusammenkunft Dtsch Opthalmol Ges"},{"key":"CR6","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/BF00324678","volume":"24","author":"Guan","year":"1993","unstructured":"Guan K, Farh L, Marshall TK, Deschenes RJ (1993) Normal mitochondrial structure and genomic maintenance in yeast requires the dynamin-like product of the MGM1 gene. Curr Genet 24:141\u2013148","journal-title":"Curr Genet"},{"key":"CR7","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/S0161-6420(80)35247-0","volume":"87","author":"Hoyt","year":"1980","unstructured":"Hoyt CS (1980) Autosomal dominant optic atrophy: a spectrum of disability. Ophthalmology 87:245\u2013251","journal-title":"Ophthalmology"},{"key":"CR8","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1007\/BF00684285","volume":"155","author":"Jaeger","year":"1954","unstructured":"Jaeger W (1954) Dominant vererbte Optikusatrophie. Albrecht von Graefes Arch Ophthalmol 155:457\u2013484","journal-title":"Albrecht von Graefes Arch Ophthalmol"},{"key":"CR9","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/S0161-6420(99)90013-1","volume":"106","author":"Johnston","year":"1999","unstructured":"Johnston RL, Seller MJ, Behnam JT, Burdon MA, Spalton DJ (1999) Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies. Ophthalmology 106:123\u2013128","journal-title":"Ophthalmology"},{"key":"CR10","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1136\/bjo.42.7.413","volume":"42","author":"Joseph","year":"1958","unstructured":"Joseph R, David JB (1958) Dominantly inherited optic atrophy. Br J Opthalmol 42:413\u2013424","journal-title":"Br J Opthalmol"},{"key":"CR11","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/j.1600-0420.1996.tb00672.x","volume":"74","author":"Kjer","year":"1996","unstructured":"Kjer B, Eiberg H, Kjer P, Rosenberg T (1996) Dominant optic atrophy mapped to chromosome 3q region. Acta Ophthalmol Scand 74:3\u20137","journal-title":"Acta Ophthalmol Scand"},{"key":"CR12","first-page":"135","volume":"3","author":"Kjer","year":"1956","unstructured":"Kjer P (1956) Infantile optic atrophy with dominant transmission. Dan Med Bull 3:135\u2013141","journal-title":"Dan Med Bull"},{"key":"CR13","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1111\/j.1755-3768.1983.tb01424.x","volume":"61","author":"Kjer","year":"1983","unstructured":"Kjer P, Jensen OA, Klinken L (1983) Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. Acta Opthalmol 61:300\u2013312","journal-title":"Acta Opthalmol"},{"key":"CR14","first-page":"905","volume":"Ophthalmol","author":"Kok-Van","year":"1970","unstructured":"Kok-Van Alphen CC (1970) Four families with the infantile form of optical atrophy. Acta Ophthalmol (Copenh) 48:905\u2013916","journal-title":"Acta"},{"key":"CR15","first-page":"831","volume":"91","author":"Lorenz","year":"1994","unstructured":"Lorenz B (1994) Hereditary optic atrophy. Ophthalmologe 91:831\u2013850","journal-title":"Ophthalmologe"},{"key":"CR16","unstructured":"Lyle WM (1990) Genetic risks. University of Waterloo Press, Waterloo"},{"key":"CR17","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1046\/j.1471-4159.1997.68020498.x","volume":"68","author":"Matsuoka","year":"1997","unstructured":"Matsuoka I, Suzuki Y, Defer N, Nakanishi H, Hanoune J (1997) Differential expression of type I, II, and V adenylyl cyclase gene in the postnatal developing rat brain. J Neurochem 68:498\u2013506","journal-title":"J Neurochem"},{"key":"CR18","first-page":"431","volume":"Oculist","author":"Michal","year":"1968","unstructured":"Michal S, Ptasinska-Urbanska M, Mitkiewicz-Bochenek W (1968) Atrophie optique h\u00e9r\u00e9do-familiale dominante associ\u00e9e \u00e0 la surdi-mutit\u00e9. Ann Oculist (Paris) 201:431\u2013435","journal-title":"Ann"},{"key":"CR19","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1046\/j.1471-4159.2003.01871.x","volume":"86","author":"Minich","year":"2003","unstructured":"Minich T, Yokota S, Dringen R (2003) Cytosolic and mitochondrial isoforms of NADP+-dependent isocitrate dehydrogenases are expressed in cultures rat neurons, astrocytes, oligodendrocytes and microglial cells. J Neurochem 86:605\u2013614","journal-title":"J Neurochem"},{"key":"CR20","doi-asserted-by":"crossref","first-page":"15834","DOI":"10.1074\/jbc.M109260200","volume":"277","author":"Misaka","year":"2002","unstructured":"Misaka T, Miyashita T, Yoshihiro Kubo (2002) Primary structure of a dynamin-ralated mouse mitochondrial GTPase and its distribution in brain, subcellular localization, and effect on mitochondrial morphology. J Biol Chem 277:15834\u201315842","journal-title":"J Biol Chem"},{"key":"CR21","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/s004010000284","volume":"101","author":"Mittelbronn","year":"2001","unstructured":"Mittelbronn M, Dietz K, Schluesener HJ, Meyermann R (2001) Local distribution of microglia in the normal adult human central nervous system differs by up to one order of magnitude. Acta Neuropathol 101:249\u2013255","journal-title":"Acta Neuropathol"},{"key":"CR22","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1006\/geno.2000.6340","volume":"69","author":"Mizushima","year":"2000","unstructured":"Mizushima K, Miyamoto Y, Tsukahara F, Hirai M, Sakaki Y, Ito T (2000) A novel G-protein-coupled receptor gene expressed in the striatum. Genomics 69:324\u2013321","journal-title":"Genomics"},{"key":"CR23","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/S0014-5793(02)02985-X","volume":"523","author":"Olichon","year":"2002","unstructured":"Olichon A, Emorine LJ, Descoins E, Pelloquin L, Brichese L, Gas N, Guillou E, Delettre C, Valette A, Hamel C, Ducommun B, Lenaers G, Belenguer P (2002) The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space. FEBS Lett 523:171\u2013176","journal-title":"FEBS Lett"},{"key":"CR24","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1006\/bbrc.1998.9539","volume":"251","author":"Pelloquin","year":"1998","unstructured":"Pelloquin L, Belenguer P, Menon Y, Ducommun B (1998) Identification of a fission yeast dynamin-related protein involved in mitochondrial DNA maintenance. Biochem Biophys Res Commun 251:720\u2013726","journal-title":"Biochem Biophys Res Commun"},{"key":"CR25","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1002\/jnr.10050","volume":"66","author":"Perkins","year":"2001","unstructured":"Perkins GA, Renken CW, Frey TG, Ellisman MH (2001) Membrane architecture of mitochondria in neurons of the central nervous system. J Neurosci Res 66:857\u2013865","journal-title":"J Neurosci Res"},{"key":"CR26","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1093\/hmg\/10.13.1359","volume":"10","author":"Pesch","year":"2001","unstructured":"Pesch UEA, Leo-Kottler B, Mayer S, Jurklies B, Kellner U, Apfelstedt-Sylla E, Zrenner E, Wissinger B (2001) OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Hum Mol Genet 10:1359\u20131368","journal-title":"Hum Mol Genet"},{"key":"CR27","unstructured":"Pesch UEA, Fries JE, Bette S, Kalbacher H, Wissinger B, Alexander C, Kohler K (in press) Opa1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina. Invest Ophthalmol Vis Sci"},{"key":"CR28","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1136\/jmg.35.10.793","volume":"35","author":"Votruba","year":"1998","unstructured":"Votruba M, Moore AT, Bhattacharya SS (1998) Clinical features, molecular genetics and pathophysiology of dominant optic atrophy. J Med Genet 35:793\u2013800","journal-title":"J Med Genet"},{"key":"CR29","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/S0006-291X(02)02874-7","volume":"300","author":"Satoh","year":"2003","unstructured":"Satoh M, Hamamoto T, Seo N, Kagawa Y, Endo H (2003) Differential sublocalization of the dynamin-related protein OPA1 isoforms in mitochondria. Biochem Biophys Res Commun 300:482\u2013493","journal-title":"Biochem Biophys Res Commun"}],"container-title":["Acta Neuropathologica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-004-0970-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00401-004-0970-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-004-0970-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,5]],"date-time":"2020-04-05T17:19:43Z","timestamp":1586107183000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00401-004-0970-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,2,8]]},"references-count":29,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,4]]}},"alternative-id":["970"],"URL":"https:\/\/doi.org\/10.1007\/s00401-004-0970-8","relation":{},"ISSN":["0001-6322","1432-0533"],"issn-type":[{"value":"0001-6322","type":"print"},{"value":"1432-0533","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,2,8]]}}}