OPA1, the disease gene for optic atrophy type Kjer, is expressed in the inner ear-Reference-Cited by-同舟云学术

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OPA1, the disease gene for optic atrophy type Kjer, is expressed in the inner ear

Published:2007-09-08 Issue:5 Volume:128 Page:421-430
ISSN:0948-6143
Container-title:Histochemistry and Cell Biology
language:en
Short-container-title:Histochem Cell Biol

Author:

Bette Stefanie,Zimmermann Ulrike,Wissinger Bernd,Knipper Marlies

Publisher

Springer Science and Business Media LLC

Subject

Cell Biology,Medical Laboratory Technology,Molecular Biology,Histology,General Agricultural and Biological Sciences,General Medicine,Anatomy

Link

http://link.springer.com/content/pdf/10.1007/s00418-007-0321-7.pdf

Reference51 articles.

1. 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 45:1667–1673

2. Alavi MV, Bette S, Schimpf S, Schuettauf F, Schraermeyer U, Wehrl HF, Ruttiger L, Beck SC, Tonagel F, Pichler BJ, Knipper M, Peters T, Laufs J, Wissinger B (2007) A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy. Brain 130:1029–1042

3. Alexander C, Votruba M, Pesch UE, 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 26:211–215

4. Amati-Bonneau P, Odent S, Derrien C, Pasquier L, Malthiery Y, Reynier P, Bonneau D (2003) The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. Am J Ophthalmol 136:1170–1171

5. Amati-Bonneau P, Guichet A, Olichon A, Chevrollier A, Viala F, Miot S, Ayuso C, Odent S, Arrouet C, Verny C, Calmels MN, Simard G, Belenguer P, Wang J, Puel JL, Hamel C, Malthiery Y, Bonneau D, Lenaers G, Reynier P (2005) OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann Neurol 58:958–963

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