PubMed (OMIM) for id: 66358

Year	Number of Results
1979	1
1984	2
1985	1
1992	1
1998	3
1999	2
2000	2
2001	6
2002	3
2003	2
2004	3
2024	0

1

Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.

Payne M, Yang Z, Katz BJ, Warner JE, Weight CJ, Zhao Y, Pearson ED, Treft RL, Hillman T, Kennedy RJ, Meire FM, Zhang K. Payne M, et al. Am J Ophthalmol. 2004 Nov;138(5):749-55. doi: 10.1016/j.ajo.2004.06.011. Am J Ophthalmol. 2004. PMID: 15531309

2

OPA1 requires mitofusin 1 to promote mitochondrial fusion.

Cipolat S, Martins de Brito O, Dal Zilio B, Scorrano L. Cipolat S, et al. Proc Natl Acad Sci U S A. 2004 Nov 9;101(45):15927-32. doi: 10.1073/pnas.0407043101. Epub 2004 Oct 27. Proc Natl Acad Sci U S A. 2004. PMID: 15509649 Free PMC article.

3

Mitochondrial fusion intermediates revealed in vitro.

Meeusen S, McCaffery JM, Nunnari J. Meeusen S, et al. Science. 2004 Sep 17;305(5691):1747-52. doi: 10.1126/science.1100612. Epub 2004 Aug 5. Science. 2004. PMID: 15297626

4

A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

Shimizu S, Mori N, Kishi M, Sugata H, Tsuda A, Kubota N. Shimizu S, et al. Am J Ophthalmol. 2003 Feb;135(2):256-7. doi: 10.1016/s0002-9394(02)01929-3. Am J Ophthalmol. 2003. PMID: 12566046

5

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis.

Olichon A, Baricault L, Gas N, Guillou E, Valette A, Belenguer P, Lenaers G. Olichon A, et al. J Biol Chem. 2003 Mar 7;278(10):7743-6. doi: 10.1074/jbc.C200677200. Epub 2002 Dec 31. J Biol Chem. 2003. PMID: 12509422 Free article.

6

Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma.

Aung T, Ocaka L, Ebenezer ND, Morris AG, Brice G, Child AH, Hitchings RA, Lehmann OJ, Bhattacharya SS. Aung T, et al. Hum Genet. 2002 May;110(5):513-4. doi: 10.1007/s00439-002-0711-9. Epub 2002 Apr 10. Hum Genet. 2002. PMID: 12073024

7

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.

Aung T, Ocaka L, Ebenezer ND, Morris AG, Krawczak M, Thiselton DL, Alexander C, Votruba M, Brice G, Child AH, Francis PJ, Hitchings RA, Lehmann OJ, Bhattacharya SS. Aung T, et al. Hum Genet. 2002 Jan;110(1):52-6. doi: 10.1007/s00439-001-0645-7. Epub 2001 Nov 23. Hum Genet. 2002. PMID: 11810296

8

Mutation spectrum and splicing variants in the OPA1 gene.

Delettre C, Griffoin JM, Kaplan J, Dollfus H, Lorenz B, Faivre L, Lenaers G, Belenguer P, Hamel CP. Delettre C, et al. Hum Genet. 2001 Dec;109(6):584-91. doi: 10.1007/s00439-001-0633-y. Epub 2001 Oct 30. Hum Genet. 2001. PMID: 11810270

9

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.

Thiselton DL, Alexander C, Morris A, Brooks S, Rosenberg T, Eiberg H, Kjer B, Kjer P, Bhattacharya SS, Votruba M. Thiselton DL, et al. Hum Genet. 2001 Nov;109(5):498-502. doi: 10.1007/s004390100600. Epub 2001 Oct 3. Hum Genet. 2001. PMID: 11735024

10

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

Toomes C, Marchbank NJ, Mackey DA, Craig JE, Newbury-Ecob RA, Bennett CP, Vize CJ, Desai SP, Black GC, Patel N, Teimory M, Markham AF, Inglehearn CF, Churchill AJ. Toomes C, et al. Hum Mol Genet. 2001 Jun 15;10(13):1369-78. doi: 10.1093/hmg/10.13.1369. Hum Mol Genet. 2001. PMID: 11440989

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