Genotypic and phenotypic characteristics of Korean children with childhood-onset Leber’s hereditary optic neuropathy
Sign Up to like & getrecommendations! Published in 2020 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-020-04757-x
Abstract: Purpose We sought to identify the phenotypic and genotypic characteristics of Korean children with genetically confirmed Leber’s hereditary optic neuropathy (LHON). Methods The medical records of 64 genetically confirmed LHON patients were reviewed. Seventeen patients… read more here.
Keywords: childhood; childhood onset; onset group; lhon ... See more keywords
Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON).
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101939
Abstract: Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited disorder caused by homoplasmic mutations of mitochondrial DNA (mtDNA). LHON is characterized by the selective degeneration of the retinal ganglion cells (RGC). Almost all LHON maternal… read more here.
Keywords: lhon; neuropathy lhon; carrying homoplasmic; hereditary optic ... See more keywords
The Natural History of Leber’s Hereditary Optic Neuropathy in an Irish Population and Assessment for Prognostic Biomarkers
Sign Up to like & getrecommendations! Published in 2022 at "Neuro-Ophthalmology"
DOI: 10.1080/01658107.2022.2032761
Abstract: ABSTRACT In this study we have assessed the clinical and genetic characteristics of an Irish Leber’s hereditary optic neuropathy (LHON) cohort and assessed for useful biomarkers of visual prognosis. We carried out a retrospective review… read more here.
Keywords: natural history; history leber; optic neuropathy; hereditary optic ... See more keywords
The epidemiology and mutation types of Leber’s hereditary optic neuropathy in Thailand
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DOI: 10.1080/07853890.2022.2082517
Abstract: Abstract Purpose Leber’s hereditary optic neuropathy (LHON), the most common mitochondrial optic neuropathy, causes visual loss, especially in young adults. Due to the absence of epidemiological data in Southeast Asia, we aimed to determine Thai… read more here.
Keywords: optic neuropathy; hereditary optic; mutation; epidemiology ... See more keywords
Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene
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DOI: 10.1080/13816810.2021.1913611
Abstract: ABSTRACT Background Leber hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease. The majority (>90%) is related to three primary mitochondrial DNA (mtDNA) variants: ND1 m.3460G>A, ND4 m.11778G>A and ND6 m.14484T>C. The remaining 10% is… read more here.
Keywords: leber hereditary; lhon; neuropathy lhon; family ... See more keywords
Leber's hereditary optic neuropathy (LHON)-associated ND6 14 484 T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac109
Abstract: Leber's hereditary optic neuropathy (LHON) is a maternally inherited eye disease due to mitochondrial DNA (mtDNA) mutations. LHON-linked ND6 14 484 T > C (p.M64V) mutation affected structural components of complex I but its pathophysiology is poorly understood. The… read more here.
Keywords: 14484 mutation; optic neuropathy; hereditary optic; mutation ... See more keywords
Mitophagy activation repairs Leber's hereditary optic neuropathy‐associated mitochondrial dysfunction and improves cell survival
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DOI: 10.1093/hmg/ddy354
Abstract: Abstract Leber's hereditary optic neuropathy (LHON) is a classical mitochondrial disease caused by mutations in the mitochondrial DNA encoding complex I subunits. Oxidative stress associated with complex I defect has been implicated in developing LHON… read more here.
Keywords: lhon; cell survival; hereditary optic; activation ... See more keywords
Survival from liver transplantation in mitochondrial disorders not only depends on periprocedural complications but also on the genotype and on mitochondrion‐toxic drugs
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DOI: 10.1111/petr.14137
Abstract: To the Editor With interest we read the article by Uchida et al. about the indication and outcome of liver transplantation (LT) in 13 patients with a mitochondrial disorder (MID) with liver involvement and acute… read more here.
Keywords: lhon; liver involvement; liver; liver transplantation ... See more keywords
Childhood-onset Leber hereditary optic neuropathy
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DOI: 10.1136/bjophthalmol-2016-310072
Abstract: Background The onset of Leber hereditary optic neuropathy (LHON) is relatively rare in childhood. This study describes the clinical and molecular genetic features observed in this specific LHON subgroup. Methods Our retrospective study consisted of… read more here.
Keywords: lhon; childhood; hereditary optic; leber hereditary ... See more keywords
[Leber's hereditary optic neuropathy clinical features in patients with mitochondrial DNA m.13513G>A candidate mutation].
Sign Up to like & getrecommendations! Published in 2022 at "Vestnik oftalmologii"
DOI: 10.17116/oftalma2022138052208
Abstract: Leber's hereditary optic neuropathy (LHON) is caused by primary mtDNA by both primary mtDNA mutations and new mtDNA mutations. The last ones, when detected in several independent LHON families, receive candidate status. The description of… read more here.
Keywords: optic neuropathy; hereditary optic; clinical features; mutation ... See more keywords
Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives
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DOI: 10.3389/fneur.2021.648916
Abstract: More than 30 years after discovering Leber's hereditary optic neuropathy (LHON) as the first maternally inherited disease associated with homoplasmic mtDNA mutations, we still struggle to achieve effective therapies. LHON is characterized by selective degeneration… read more here.
Keywords: lhon; neuropathy lhon; hereditary optic; leber hereditary ... See more keywords