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Items: 1 to 20 of 87

1.

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.

Hanein S, Garcia M, Fares-Taie L, Serre V, De Keyzer Y, Delaveau T, Perrault I, Delphin N, Gerber S, Schmitt A, Masse JM, Munnich A, Kaplan J, Devaux F, Rozet JM.

Biochim Biophys Acta. 2013 Jun;1830(6):3719-33. doi: 10.1016/j.bbagen.2013.02.025. Epub 2013 Mar 13.

PMID:
23500070
2.

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F, Munnich A, Dufier JL, Kaplan J, Rozet JM.

Am J Hum Genet. 2009 Apr;84(4):493-8. doi: 10.1016/j.ajhg.2009.03.003. Epub 2009 Mar 26.

3.

Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network.

Kamei S, Chen-Kuo-Chang M, Cazevieille C, Lenaers G, Olichon A, Bélenguer P, Roussignol G, Renard N, Eybalin M, Michelin A, Delettre C, Brabet P, Hamel CP.

Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4288-94.

PMID:
16249510
4.

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.

Carelli V, La Morgia C, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA.

Biochim Biophys Acta. 2009 May;1787(5):518-28. doi: 10.1016/j.bbabio.2009.02.024. Epub 2009 Mar 5. Review.

5.

Genetically determined optic neuropathies.

Milea D, Amati-Bonneau P, Reynier P, Bonneau D.

Curr Opin Neurol. 2010 Feb;23(1):24-8. doi: 10.1097/WCO.0b013e3283347b27. Review.

PMID:
19915464
6.
7.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Mégy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G.

Am J Hum Genet. 2015 Nov 5;97(5):754-60. doi: 10.1016/j.ajhg.2015.09.012. Epub 2015 Oct 22. Erratum in: Am J Hum Genet. 2015 Nov 5;97(5):769.

8.

Mitochondrial optic neuropathies: how two genomes may kill the same cell type?

Carelli V, La Morgia C, Iommarini L, Carroccia R, Mattiazzi M, Sangiorgi S, Farne' S, Maresca A, Foscarini B, Lanzi L, Amadori M, Bellan M, Valentino ML.

Biosci Rep. 2007 Jun;27(1-3):173-84. Review.

PMID:
17479363
9.

Mitochondrial dysfunction as a cause of optic neuropathies.

Carelli V, Ross-Cisneros FN, Sadun AA.

Prog Retin Eye Res. 2004 Jan;23(1):53-89. Review.

PMID:
14766317
10.

Optic neuropathies--importance of spatial distribution of mitochondria as well as function.

Yu Wai Man CY, Chinnery PF, Griffiths PG.

Med Hypotheses. 2005;65(6):1038-42. Epub 2005 Aug 10.

PMID:
16098682
11.

OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina.

Pesch UE, Fries JE, Bette S, Kalbacher H, Wissinger B, Alexander C, Kohler K.

Invest Ophthalmol Vis Sci. 2004 Nov;45(11):4217-25.

PMID:
15505078
12.

[Vulnerability of retinal ganglion cells to mitochondrial defects].

Solano Palacios A.

Arch Soc Esp Oftalmol. 2012 Mar;87(3):69-71. doi: 10.1016/j.oftal.2012.01.008. Spanish. No abstract available.

PMID:
22423654
13.

A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family.

Zhang L, Shi W, Song L, Zhang X, Cheng L, Wang Y, Ge X, Li W, Zhang W, Min Q, Jin ZB, Qu J, Gu F.

Sci Rep. 2014 Nov 6;4:6936. doi: 10.1038/srep06936.

14.

OPA1 expression in the normal rat retina and optic nerve.

Ju WK, Misaka T, Kushnareva Y, Nakagomi S, Agarwal N, Kubo Y, Lipton SA, Bossy-Wetzel E.

J Comp Neurol. 2005 Jul 18;488(1):1-10.

15.

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE.

Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13.

16.

Molecular genetic basis of primary inherited optic neuropathies.

Votruba M.

Eye (Lond). 2004 Nov;18(11):1126-32. Review.

PMID:
15534598
17.

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.

Brain. 2007 Apr;130(Pt 4):1029-42. Epub 2007 Feb 21.

PMID:
17314202
18.

Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy.

Mayorov VI, Lowrey AJ, Biousse V, Newman NJ, Cline SD, Brown MD.

BMC Biochem. 2008 Sep 10;9:22. doi: 10.1186/1471-2091-9-22.

19.

[Hereditary optic atrophies].

Scherer C, Procaccio V, Ferre M, Guillet V, Reynier P, Amati-Bonneau P, Dubas F, Bonneau D, Verny C.

Rev Neurol (Paris). 2010 Dec;166(12):959-65. doi: 10.1016/j.neurol.2010.07.033. Epub 2010 Nov 5. Review. French.

PMID:
21056443
20.

Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation.

Ryu SW, Jeong HJ, Choi M, Karbowski M, Choi C.

Cell Mol Life Sci. 2010 Aug;67(16):2839-50. doi: 10.1007/s00018-010-0365-z. Epub 2010 Apr 8.

PMID:
20372962

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