Similar articles for PMID: 18678599

Year	Number of Results
2001	1
2002	3
2003	3
2004	4
2005	3
2006	4
2007	9
2008	8
2009	8
2010	11
2011	9
2012	11
2013	7
2014	3
2015	13
2016	9
2017	7
2018	7
2019	3
2020	6
2021	8
2022	9
2023	3
2024	0

1

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.

Spinazzi M, Cazzola S, Bortolozzi M, Baracca A, Loro E, Casarin A, Solaini G, Sgarbi G, Casalena G, Cenacchi G, Malena A, Frezza C, Carrara F, Angelini C, Scorrano L, Salviati L, Vergani L. Spinazzi M, et al. Hum Mol Genet. 2008 Nov 1;17(21):3291-302. doi: 10.1093/hmg/ddn225. Epub 2008 Aug 4. Hum Mol Genet. 2008. PMID: 18678599

2

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.

Olichon A, Landes T, Arnauné-Pelloquin L, Emorine LJ, Mils V, Guichet A, Delettre C, Hamel C, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Belenguer P. Olichon A, et al. J Cell Physiol. 2007 May;211(2):423-30. doi: 10.1002/jcp.20950. J Cell Physiol. 2007. PMID: 17167772

3

Changes in Mitochondrial Morphology and Bioenergetics in Human Lymphoblastoid Cells With Four Novel OPA1 Mutations.

Kao SH, Yen MY, Wang AG, Yeh YL, Lin AL. Kao SH, et al. Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2269-78. doi: 10.1167/iovs.14-16288. Invest Ophthalmol Vis Sci. 2015. PMID: 25744979

4

Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.

Formichi P, Radi E, Giorgi E, Gallus GN, Brunetti J, Battisti C, Rufa A, Dotti MT, Franceschini R, Bracci L, Federico A. Formichi P, et al. J Neurol Sci. 2015 Apr 15;351(1-2):99-108. doi: 10.1016/j.jns.2015.02.047. Epub 2015 Mar 6. J Neurol Sci. 2015. PMID: 25796301

5

Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy.

Van Bergen NJ, Crowston JG, Kearns LS, Staffieri SE, Hewitt AW, Cohn AC, Mackey DA, Trounce IA. Van Bergen NJ, et al. PLoS One. 2011;6(6):e21347. doi: 10.1371/journal.pone.0021347. Epub 2011 Jun 22. PLoS One. 2011. PMID: 21731710 Free PMC article.

6

Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function.

Davies VJ, Hollins AJ, Piechota MJ, Yip W, Davies JR, White KE, Nicols PP, Boulton ME, Votruba M. Davies VJ, et al. Hum Mol Genet. 2007 Jun 1;16(11):1307-18. doi: 10.1093/hmg/ddm079. Epub 2007 Apr 11. Hum Mol Genet. 2007. PMID: 17428816

7

A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.

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. Alavi MV, et al. Brain. 2007 Apr;130(Pt 4):1029-42. doi: 10.1093/brain/awm005. Epub 2007 Feb 21. Brain. 2007. PMID: 17314202

8

Opa1 Deficiency Leads to Diminished Mitochondrial Bioenergetics With Compensatory Increased Mitochondrial Motility.

Sun S, Erchova I, Sengpiel F, Votruba M. Sun S, et al. Invest Ophthalmol Vis Sci. 2020 Jun 3;61(6):42. doi: 10.1167/iovs.61.6.42. Invest Ophthalmol Vis Sci. 2020. PMID: 32561926 Free PMC article.

9

Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy.

Ahuja AS, Selvam P, Vadlamudi C, Chopra H, Richter JE Jr, Macklin SK, Samreen A, Helmi H, Mohammaad AN, Hines S, Davila MC, Atwal PS, Caulfield TR. Ahuja AS, et al. Ophthalmic Genet. 2020 Dec;41(6):563-569. doi: 10.1080/13816810.2020.1814344. Epub 2020 Sep 17. Ophthalmic Genet. 2020. PMID: 32940104

10

Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy.

Mayorov VI, Lowrey AJ, Biousse V, Newman NJ, Cline SD, Brown MD. Mayorov VI, et al. BMC Biochem. 2008 Sep 10;9:22. doi: 10.1186/1471-2091-9-22. BMC Biochem. 2008. PMID: 18783614 Free PMC article.

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