Cargando…

New Insights on Rotenone Resistance of Complex I Induced by the m.11778G>A/MT-ND4 Mutation Associated with Leber’s Hereditary Optic Neuropathy

The finding that the most common mitochondrial DNA mutation m.11778G>A/MT-ND4 (p.R340H) associated with Leber’s hereditary optic neuropathy (LHON) induces rotenone resistance has produced a long-standing debate, because it contrasts structural evidence showing that the ND4 subunit is far away fro...

Descripción completa

Detalles Bibliográficos
Autores principales:	Musiani, Francesco, Rigobello, Laura, Iommarini, Luisa, Carelli, Valerio, Degli Esposti, Mauro, Ghelli, Anna Maria
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8876992/ https://www.ncbi.nlm.nih.gov/pubmed/35209128 http://dx.doi.org/10.3390/molecules27041341

Ejemplares similares

Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy
por: Newman, Nancy J, et al.
Publicado: (2022)

Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation
por: Carelli, Valerio, et al.
Publicado: (2022)

Repetitive brainstem lesions in mitochondrial DNA 11778G>A mutation of Leber hereditary optic neuropathy
por: Miyaue, Noriyuki, et al.
Publicado: (2019)

The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione Toxicity
por: Ghelli, Anna, et al.
Publicado: (2009)

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)
por: Engvall, Martin, et al.
Publicado: (2021)

Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese
por: Ji, Yanli, et al.
Publicado: (2010)

Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison
por: Newman, Nancy J., et al.
Publicado: (2021)

Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA
por: Nakaso, Kazuhiro, et al.
Publicado: (2012)

Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants
por: Peverelli, Lorenzo, et al.
Publicado: (2021)

Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways
por: Giordano, L, et al.
Publicado: (2015)

Leber's Hereditary Optic Neuropathy with Mitochondrial DNA Mutation G11778A: A Systematic Literature Review and Meta-Analysis
por: Yuan, Jiajia, et al.
Publicado: (2023)

Pathogenicity of Variant m.13528A>G in MT-ND5 in Leber’s Hereditary Optic Neuropathy Is Unsupported
por: Finsterer, Josef, et al.
Publicado: (2023)

Gene Therapies for the Treatment of Leber Hereditary Optic Neuropathy
por: Sahel, José-Alain, et al.
Publicado: (2021)

Response to “Pathogenicity of Variant m.13528A>G in MT-ND5 in Leber’s Hereditary Optic Neuropathy Is Unsupported”
por: Pandya, Bhadra U., et al.
Publicado: (2023)

Secondary Post-Geniculate Involvement in Leber’s Hereditary Optic Neuropathy
por: Rizzo, Giovanni, et al.
Publicado: (2012)

A Rare ND5 Mutation Causing Leber’s Hereditary Optic Neuropathy
por: Pandya, Bhadra U., et al.
Publicado: (2023)

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy
por: Achilli, Alessandro, et al.
Publicado: (2012)

Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations
por: Pfeffer, Gerald, et al.
Publicado: (2013)

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy
por: Giordano, Carla, et al.
Publicado: (2014)

Visual prognosis better in eyes with less severe reduction of visual acuity one year after onset of Leber hereditary optic neuropathy caused by the 11,778 mutation
por: Mashima, Yukihiko, et al.
Publicado: (2017)

Diagnosing Leber's Hereditary Optic Neuropathy Requires Documentation of a Causative mtDNA Variant
por: Finsterer, Josef
Publicado: (2023)

Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy
por: Hudson, Gavin, et al.
Publicado: (2010)

Longitudinal Study of Optic Disk Perfusion and Retinal Structure in Leber's Hereditary Optic Neuropathy
por: Calzetti, Giacomo, et al.
Publicado: (2022)

Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives
por: Peron, Camille, et al.
Publicado: (2021)

Changes in Choroidal Thickness follow the RNFL Changes in Leber’s Hereditary Optic Neuropathy
por: Borrelli, Enrico, et al.
Publicado: (2016)

Leber hereditary optic neuropathy: current perspectives
por: Meyerson, Cherise, et al.
Publicado: (2015)

Leber’s hereditary optic neuropathy - Case report
por: Iorga, Raluca Eugenia, et al.
Publicado: (2018)

Leber’s Hereditary Optic Neuropathy – Case Discussion
por: Culea, Cristina, et al.
Publicado: (2019)

Arterial sheathing in Leber hereditary optic neuropathy
por: Zhou, Henry W., et al.
Publicado: (2022)

Clinical Overview of Leber Hereditary Optic Neuropathy
por: Stramkauskaitė, Almina, et al.
Publicado: (2022)

Leber’s Hereditary Optic Neuropathy and Hypertrophic Cardiomyopathy
por: Hey, Thomas Morris, et al.
Publicado: (2022)

Developments in the Treatment of Leber Hereditary Optic Neuropathy
por: Chen, Benson S., et al.
Publicado: (2022)

Profiling the Mitochondrial Proteome of Leber’s Hereditary Optic Neuropathy (LHON) in Thailand: Down-Regulation of Bioenergetics and Mitochondrial Protein Quality Control Pathways in Fibroblasts with the 11778G>A Mutation
por: Tun, Aung Win, et al.
Publicado: (2014)

Efficacy and Safety of rAAV2-ND4 Treatment for Leber’s Hereditary Optic Neuropathy
por: Wan, Xing, et al.
Publicado: (2016)

Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON)
por: Guy, John, et al.
Publicado: (2008)

Pathological mitophagy disrupts mitochondrial homeostasis in Leber’s hereditary optic neuropathy
por: Danese, Alberto, et al.
Publicado: (2022)

Assocation Between Leber's Hereditary Optic Neuropathy and MT-ND1 3460G>A Mutation-Induced Alterations in Mitochondrial Function, Apoptosis, and Mitophagy
por: Zhang, Juanjuan, et al.
Publicado: (2021)

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy
por: Caporali, Leonardo, et al.
Publicado: (2018)

Leber’s Hereditary Optic Neuropathy: The Mitochondrial Connection Revisited
por: Abu-Amero, Khaled K.
Publicado: (2011)

Gene–environment interactions in Leber hereditary optic neuropathy
por: Kirkman, Matthew Anthony, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_6rscev5hopch2t11dbat2m11fa