These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

239 related articles for article (PubMed ID: 18678599)

  • 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
    Hum Mol Genet; 2008 Nov; 17(21):3291-302. PubMed ID: 18678599
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    J Cell Physiol; 2007 May; 211(2):423-30. PubMed ID: 17167772
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    Invest Ophthalmol Vis Sci; 2015 Apr; 56(4):2269-78. PubMed ID: 25744979
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    J Neurol Sci; 2015 Apr; 351(1-2):99-108. PubMed ID: 25796301
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    PLoS One; 2011; 6(6):e21347. PubMed ID: 21731710
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    Hum Mol Genet; 2007 Jun; 16(11):1307-18. PubMed ID: 17428816
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    Brain; 2007 Apr; 130(Pt 4):1029-42. PubMed ID: 17314202
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Opa1 Deficiency Leads to Diminished Mitochondrial Bioenergetics With Compensatory Increased Mitochondrial Motility.
    Sun S; Erchova I; Sengpiel F; Votruba M
    Invest Ophthalmol Vis Sci; 2020 Jun; 61(6):42. PubMed ID: 32561926
    [TBL] [Abstract][Full Text] [Related]  

  • 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; Macklin SK; Samreen A; Helmi H; Mohammaad AN; Hines S; Davila MC; Atwal PS; Caulfield TR
    Ophthalmic Genet; 2020 Dec; 41(6):563-569. PubMed ID: 32940104
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy.
    Mayorov VI; Lowrey AJ; Biousse V; Newman NJ; Cline SD; Brown MD
    BMC Biochem; 2008 Sep; 9():22. PubMed ID: 18783614
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
    Thiselton DL; Alexander C; Taanman JW; Brooks S; Rosenberg T; Eiberg H; Andreasson S; Van Regemorter N; Munier FL; Moore AT; Bhattacharya SS; Votruba M
    Invest Ophthalmol Vis Sci; 2002 Jun; 43(6):1715-24. PubMed ID: 12036970
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the
    García-López M; Jiménez-Vicente L; González-Jabardo R; Dorado H; Gómez-Manjón I; Martín MÁ; Ayuso C; Arenas J; Gallardo ME
    Int J Mol Sci; 2024 Jun; 25(13):. PubMed ID: 39000346
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mitochondrial DNA content is decreased in autosomal dominant optic atrophy.
    Kim JY; Hwang JM; Ko HS; Seong MW; Park BJ; Park SS
    Neurology; 2005 Mar; 64(6):966-72. PubMed ID: 15781809
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.
    Sarzi E; Seveno M; Angebault C; Milea D; Rönnbäck C; Quilès M; Adrian M; Grenier J; Caignard A; Lacroux A; Lavergne C; Reynier P; Larsen M; Hamel CP; Delettre C; Lenaers G; Müller A
    Hum Mol Genet; 2016 Jun; 25(12):2539-2551. PubMed ID: 27260406
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis.
    Zhang J; Liu X; Liang X; Lu Y; Zhu L; Fu R; Ji Y; Fan W; Chen J; Lin B; Yuan Y; Jiang P; Zhou X; Guan MX
    Sci Rep; 2017 Jul; 7(1):5704. PubMed ID: 28720802
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Dominant optic atrophy: Culprit mitochondria in the optic nerve.
    Lenaers G; Neutzner A; Le Dantec Y; Jüschke C; Xiao T; Decembrini S; Swirski S; Kieninger S; Agca C; Kim US; Reynier P; Yu-Wai-Man P; Neidhardt J; Wissinger B
    Prog Retin Eye Res; 2021 Jul; 83():100935. PubMed ID: 33340656
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy.
    Almind GJ; Grønskov K; Milea D; Larsen M; Brøndum-Nielsen K; Ek J
    BMC Med Genet; 2011 Apr; 12():49. PubMed ID: 21457585
    [TBL] [Abstract][Full Text] [Related]  

  • 18.
    Cartes-Saavedra B; Lagos D; Macuada J; Arancibia D; Burté F; Sjöberg-Herrera MK; Andrés ME; Horvath R; Yu-Wai-Man P; Hajnóczky G; Eisner V
    Proc Natl Acad Sci U S A; 2023 Mar; 120(12):e2207471120. PubMed ID: 36927155
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 4():6936. PubMed ID: 25374051
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency.
    Kushnareva Y; Seong Y; Andreyev AY; Kuwana T; Kiosses WB; Votruba M; Newmeyer DD
    Cell Death Dis; 2016 Jul; 7(7):e2309. PubMed ID: 27468686
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.