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 *

119 related articles for article (PubMed ID: 27585216)

  • 1. Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation.
    Chun BY; Rizzo JF
    Curr Opin Ophthalmol; 2016 Nov; 27(6):475-480. PubMed ID: 27585216
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation.
    Barboni P; Savini G; Cascavilla ML; Caporali L; Milesi J; Borrelli E; La Morgia C; Valentino ML; Triolo G; Lembo A; Carta A; De Negri A; Sadun F; Rizzo G; Parisi V; Pierro L; Bianchi Marzoli S; Zeviani M; Sadun AA; Bandello F; Carelli V
    Am J Ophthalmol; 2014 Sep; 158(3):628-36.e3. PubMed ID: 24907432
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells.
    Sladen PE; Jovanovic K; Guarascio R; Ottaviani D; Salsbury G; Novoselova T; Chapple JP; Yu-Wai-Man P; Cheetham ME
    Hum Mol Genet; 2022 Oct; 31(20):3478-3493. PubMed ID: 35652445
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy.
    Yu-Wai-Man P; Davies VJ; Piechota MJ; Cree LM; Votruba M; Chinnery PF
    Invest Ophthalmol Vis Sci; 2009 Oct; 50(10):4561-6. PubMed ID: 19443720
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Inherited mitochondrial optic neuropathies.
    Yu-Wai-Man P; Griffiths PG; Hudson G; Chinnery PF
    J Med Genet; 2009 Mar; 46(3):145-58. PubMed ID: 19001017
    [TBL] [Abstract][Full Text] [Related]  

  • 7. AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients.
    Amore G; Romagnoli M; Carbonelli M; Cascavilla ML; De Negri AM; Carta A; Parisi V; Di Renzo A; Schiavi C; Lenzetti C; Zenesini C; Ormanbekova D; Palombo F; Fiorini C; Caporali L; Carelli V; Barboni P; La Morgia C
    Am J Ophthalmol; 2024 Jun; 262():114-124. PubMed ID: 38278202
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.
    Kane MS; Alban J; Desquiret-Dumas V; Gueguen N; Ishak L; Ferre M; Amati-Bonneau P; Procaccio V; Bonneau D; Lenaers G; Reynier P; Chevrollier A
    J Cell Mol Med; 2017 Oct; 21(10):2284-2297. PubMed ID: 28378518
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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. PubMed ID: 21112411
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Human retinal organoids with an OPA1 mutation are defective in retinal ganglion cell differentiation and function.
    Lei Q; Xiang K; Cheng L; Xiang M
    Stem Cell Reports; 2024 Jan; 19(1):68-83. PubMed ID: 38101398
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction.
    Harvey JP; Yu-Wai-Man P; Cheetham ME
    Eur J Hum Genet; 2022 Jul; 30(7):848-855. PubMed ID: 35534703
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The human OPA1
    Affortit C; Coyat C; Saidia AR; Ceccato JC; Charif M; Sarzi E; Flamant F; Guyot R; Cazevieille C; Puel JL; Lenaers G; Wang J
    Cell Mol Life Sci; 2024 Feb; 81(1):80. PubMed ID: 38334784
    [TBL] [Abstract][Full Text] [Related]  

  • 13. OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.
    Zanfardino P; Amati A; Doccini S; Cox SN; Tullo A; Longo G; D'Erchia A; Picardi E; Nesti C; Santorelli FM; Petruzzella V
    Hum Mol Genet; 2024 Apr; 33(9):768-786. PubMed ID: 38280232
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Establishing induced pluripotent stem cell lines from two dominant optic atrophy patients with distinct
    Pohl KA; Zhang X; Pham AH; Chan JW; Sadun AA; Yang XJ
    Front Genet; 2023; 14():1251216. PubMed ID: 37745862
    [TBL] [Abstract][Full Text] [Related]  

  • 15. OPA1 deficiency impairs oxidative metabolism in cycling cells, underlining a translational approach for degenerative diseases.
    Millet AMC; Coustham C; Champigny C; Botella M; Demeilliers C; Devin A; Galinier A; Belenguer P; Bordeneuve-Guibé J; Davezac N; Merabet N
    Dis Model Mech; 2023 Sep; 16(9):. PubMed ID: 37497665
    [TBL] [Abstract][Full Text] [Related]  

  • 16. CRISPR-Cas9 correction of
    Sladen PE; Perdigão PRL; Salsbury G; Novoselova T; van der Spuy J; Chapple JP; Yu-Wai-Man P; Cheetham ME
    Mol Ther Nucleic Acids; 2021 Dec; 26():432-443. PubMed ID: 34589289
    [TBL] [Abstract][Full Text] [Related]  

  • 17. OPA1 Dominant Optic Atrophy: Pathogenesis and Therapeutic Targets.
    Wong DCS; Harvey JP; Jurkute N; Thomasy SM; Moosajee M; Yu-Wai-Man P; Gilhooley MJ
    J Neuroophthalmol; 2023 Dec; 43(4):464-474. PubMed ID: 37974363
    [No Abstract]   [Full Text] [Related]  

  • 18. Maculopapillary Bundle Degeneration in Optic Neuropathies.
    Lambiri DW; Levin LA
    Curr Neurol Neurosci Rep; 2024 Jul; 24(7):203-218. PubMed ID: 38833037
    [TBL] [Abstract][Full Text] [Related]  

  • 19. High-throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts.
    Cretin E; Lopes P; Vimont E; Tatsuta T; Langer T; Gazi A; Sachse M; Yu-Wai-Man P; Reynier P; Wai T
    EMBO Mol Med; 2021 Jun; 13(6):e13579. PubMed ID: 34014035
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Chinese expert consensus on the clinical diagnosis and treatment of autosomal dominant optic atrophy (2024)].
    ;
    Zhonghua Yan Ke Za Zhi; 2024 Mar; 60(3):226-233. PubMed ID: 38462370
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.