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Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.

Bolognini R, Gerth-Kahlert C, Abegg M, Bartholdi D, Mathis N, Sturm V, Gallati S, Schaller A.

BMC Med Genet. 2017 Feb 28;18(1):22. doi: 10.1186/s12881-017-0383-x.


The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.

Majander A, João C, Rider AT, Henning GB, Votruba M, Moore AT, Yu-Wai-Man P, Stockman A.

Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):502-516. doi: 10.1167/iovs.16-20309.


The Rice Dynamin-Related Protein OsDRP1E Negatively Regulates Programmed Cell Death by Controlling the Release of Cytochrome c from Mitochondria.

Li Z, Ding B, Zhou X, Wang GL.

PLoS Pathog. 2017 Jan 12;13(1):e1006157. doi: 10.1371/journal.ppat.1006157.


Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1.

Bonifert T, Gonzalez Menendez I, Battke F, Theurer Y, Synofzik M, Schöls L, Wissinger B.

Mol Ther Nucleic Acids. 2016 Nov 22;5(11):e390. doi: 10.1038/mtna.2016.93.


Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.

Loo JL, Singhal S, Rukmini AV, Tow S, Amati-Bonneau P, Procaccio V, Bonneau D, Gooley JJ, Reynier P, Ferré M, Milea D.

Eye (Lond). 2017 Mar;31(3):475-480. doi: 10.1038/eye.2016.255.


Increase in Cardiac Ischemia-Reperfusion Injuries in Opa1+/- Mouse Model.

Le Page S, Niro M, Fauconnier J, Cellier L, Tamareille S, Gharib A, Chevrollier A, Loufrani L, Grenier C, Kamel R, Sarzi E, Lacampagne A, Ovize M, Henrion D, Reynier P, Lenaers G, Mirebeau-Prunier D, Prunier F.

PLoS One. 2016 Oct 10;11(10):e0164066. doi: 10.1371/journal.pone.0164066.


Vimar Is a Novel Regulator of Mitochondrial Fission through Miro.

Ding L, Lei Y, Han Y, Li Y, Ji X, Liu L.

PLoS Genet. 2016 Oct 7;12(10):e1006359. doi: 10.1371/journal.pgen.1006359.


A neurodegenerative perspective on mitochondrial optic neuropathies.

Yu-Wai-Man P, Votruba M, Burté F, La Morgia C, Barboni P, Carelli V.

Acta Neuropathol. 2016 Dec;132(6):789-806. Review.


Key Targets for Multi-Target Ligands Designed to Combat Neurodegeneration.

Ramsay RR, Majekova M, Medina M, Valoti M.

Front Neurosci. 2016 Aug 22;10:375. doi: 10.3389/fnins.2016.00375. Review.


Loss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesis.

Millet AM, Bertholet AM, Daloyau M, Reynier P, Galinier A, Devin A, Wissinguer B, Belenguer P, Davezac N.

Ann Clin Transl Neurol. 2016 Apr 25;3(6):408-21. doi: 10.1002/acn3.305.


Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.

Hartmann B, Wai T, Hu H, MacVicar T, Musante L, Fischer-Zirnsak B, Stenzel W, Gräf R, van den Heuvel L, Ropers HH, Wienker TF, Hübner C, Langer T, Kaindl AM.

Elife. 2016 Aug 6;5. pii: e16078. doi: 10.7554/eLife.16078.


SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.

Janer A, Prudent J, Paupe V, Fahiminiya S, Majewski J, Sgarioto N, Des Rosiers C, Forest A, Lin ZY, Gingras AC, Mitchell G, McBride HM, Shoubridge EA.

EMBO Mol Med. 2016 Sep 1;8(9):1019-38. doi: 10.15252/emmm.201506159.


Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

Lee J, Jung SC, Hong YB, Yoo JH, Koo H, Lee JH, Hong HD, Kim SB, Chung KW, Choi BO.

Mol Med Rep. 2016 Jul;14(1):33-40. doi: 10.3892/mmr.2016.5209.


Invited review: Mechanisms of GTP hydrolysis and conformational transitions in the dynamin superfamily.

Daumke O, Praefcke GJ.

Biopolymers. 2016 Aug;105(8):580-93. doi: 10.1002/bip.22855. Review.


Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

Kullar PJ, Quail J, Lindsey P, Wilson JA, Horvath R, Yu-Wai-Man P, Gorman GS, Taylor RW, Ng Y, McFarland R, Moore BC, Chinnery PF.

Brain. 2016 Jun;139(Pt 6):e33. doi: 10.1093/brain/aww051. Epub 2016 Mar 25. No abstract available.


Genetic manipulation for inherited neurodegenerative diseases: myth or reality?

Yu-Wai-Man P.

Br J Ophthalmol. 2016 Oct;100(10):1322-31. doi: 10.1136/bjophthalmol-2015-308329. Epub 2016 Mar 21. Review.


Loss of Mitochondrial Function Impairs Lysosomes.

Demers-Lamarche J, Guillebaud G, Tlili M, Todkar K, Bélanger N, Grondin M, Nguyen AP, Michel J, Germain M.

J Biol Chem. 2016 May 6;291(19):10263-76. doi: 10.1074/jbc.M115.695825.


Age decreases mitochondrial motility and increases mitochondrial size in vascular smooth muscle.

Chalmers S, Saunter CD, Girkin JM, McCarron JG.

J Physiol. 2016 Aug 1;594(15):4283-95. doi: 10.1113/JP271942.


Tau accumulation impairs mitophagy via increasing mitochondrial membrane potential and reducing mitochondrial Parkin.

Hu Y, Li XC, Wang ZH, Luo Y, Zhang X, Liu XP, Feng Q, Wang Q, Yue Z, Chen Z, Ye K, Wang JZ, Liu GP.

Oncotarget. 2016 Apr 5;7(14):17356-68. doi: 10.18632/oncotarget.7861.


Alterations in Mitochondrial Quality Control in Alzheimer's Disease.

Cai Q, Tammineni P.

Front Cell Neurosci. 2016 Feb 9;10:24. doi: 10.3389/fncel.2016.00024. Review.

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