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Impaired Cellular Bioenergetics Causes Mitochondrial Calcium Handling Defects in MT-ND5 Mutant Cybrids.

McKenzie M, Duchen MR.

PLoS One. 2016 Apr 25;11(4):e0154371. doi: 10.1371/journal.pone.0154371. eCollection 2016.


A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.

Rocha MC, Grady JP, Grünewald A, Vincent A, Dobson PF, Taylor RW, Turnbull DM, Rygiel KA.

Sci Rep. 2015 Oct 15;5:15037. doi: 10.1038/srep15037.


Oxidative stress in inherited mitochondrial diseases.

Hayashi G, Cortopassi G.

Free Radic Biol Med. 2015 Nov;88(Pt A):10-7. doi: 10.1016/j.freeradbiomed.2015.05.039. Epub 2015 Jun 12. Review.


Crystal structure of the entire respiratory complex I.

Baradaran R, Berrisford JM, Minhas GS, Sazanov LA.

Nature. 2013 Feb 28;494(7438):443-8. doi: 10.1038/nature11871. Epub 2013 Feb 17.


Leber hereditary optic neuropathy and oxidative stress.

Zhuo Y, Luo H, Zhang K.

Proc Natl Acad Sci U S A. 2012 Dec 4;109(49):19882-3. doi: 10.1073/pnas.1218953109. Epub 2012 Nov 29. No abstract available.


Mouse mtDNA mutant model of Leber hereditary optic neuropathy.

Lin CS, Sharpley MS, Fan W, Waymire KG, Sadun AA, Carelli V, Ross-Cisneros FN, Baciu P, Sung E, McManus MJ, Pan BX, Gil DW, Macgregor GR, Wallace DC.

Proc Natl Acad Sci U S A. 2012 Dec 4;109(49):20065-70. doi: 10.1073/pnas.1217113109. Epub 2012 Nov 5.


Idebenone protects against retinal damage and loss of vision in a mouse model of Leber's hereditary optic neuropathy.

Heitz FD, Erb M, Anklin C, Robay D, Pernet V, Gueven N.

PLoS One. 2012;7(9):e45182. doi: 10.1371/journal.pone.0045182. Epub 2012 Sep 18.


Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.

Ji F, Sharpley MS, Derbeneva O, Alves LS, Qian P, Wang Y, Chalkia D, Lvova M, Xu J, Yao W, Simon M, Platt J, Xu S, Angelin A, Davila A, Huang T, Wang PH, Chuang LM, Moore LG, Qian G, Wallace DC.

Proc Natl Acad Sci U S A. 2012 May 8;109(19):7391-6. doi: 10.1073/pnas.1202484109. Epub 2012 Apr 18.


Bioenergetic origins of complexity and disease.

Wallace DC.

Cold Spring Harb Symp Quant Biol. 2011;76:1-16. doi: 10.1101/sqb.2011.76.010462. Epub 2011 Dec 22. Review.


Convergent mechanisms in etiologically-diverse dystonias.

Thompson VB, Jinnah HA, Hess EJ.

Expert Opin Ther Targets. 2011 Dec;15(12):1387-403. doi: 10.1517/14728222.2011.641533. Epub 2011 Dec 3. Review.


LHON: Mitochondrial Mutations and More.

Kirches E.

Curr Genomics. 2011 Mar;12(1):44-54. doi: 10.2174/138920211794520150.


Leber's Hereditary Optic Neuropathy: The Mitochondrial Connection Revisited.

Abu-Amero KK.

Middle East Afr J Ophthalmol. 2011 Jan;18(1):17-23. doi: 10.4103/0974-9233.75880.


Extra-visual functional and structural connection abnormalities in Leber's hereditary optic neuropathy.

Rocca MA, Valsasina P, Pagani E, Bianchi-Marzoli S, Milesi J, Falini A, Comi G, Filippi M.

PLoS One. 2011 Feb 10;6(2):e17081. doi: 10.1371/journal.pone.0017081.


Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.

Koilkonda RD, Guy J.

J Ophthalmol. 2011;2011:179412. doi: 10.1155/2011/179412. Epub 2010 Dec 26.


Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Yu-Wai-Man P, Griffiths PG, Chinnery PF.

Prog Retin Eye Res. 2011 Mar;30(2):81-114. doi: 10.1016/j.preteyeres.2010.11.002. Epub 2010 Nov 26. Review.


Mitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484T>C.

Yu D, Jia X, Zhang AM, Li S, Zou Y, Zhang Q, Yao YG.

PLoS One. 2010 Oct 18;5(10):e13426. doi: 10.1371/journal.pone.0013426.


Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants.

Poole JC, Procaccio V, Brandon MC, Merrick G, Wallace DC.

Biol Chem. 2010 Oct;391(10):1115-30. doi: 10.1515/BC.2010.125.


Mitochondrial DNA analysis in primary congenital glaucoma.

Tanwar M, Dada T, Sihota R, Dada R.

Mol Vis. 2010 Mar 24;16:518-33.


Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.

Tong Y, Sun YH, Zhou X, Zhao F, Mao Y, Wei QP, Yang L, Qu J, Guan MX.

Mol Genet Metab. 2010 Apr;99(4):417-24. doi: 10.1016/j.ymgme.2009.12.004. Epub 2010 Jan 6.

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