Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm
G Lenaers, C Beaulieu, M Charif, S Gerber, J Kaplan… - Brain, 2023 - academic.oup.com
Leber hereditary optic neuropathy (LHON) is a primary inherited neurodegenerative
disorder of the optic nerve. It has been ascribed to variants in the mitochondrial genome …
disorder of the optic nerve. It has been ascribed to variants in the mitochondrial genome …
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy
C Fiorini, A Degiorgi, ML Cascavilla… - Journal of Medical …, 2024 - jmg.bmj.com
Background Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder
characterised by complex I defect leading to sudden degeneration of retinal ganglion cells …
characterised by complex I defect leading to sudden degeneration of retinal ganglion cells …
Accelerated differentiation of neo-W nuclear-encoded mitochondrial genes between two climate-associated bird lineages signals potential co-evolution with …
There is considerable evidence for mitochondrial-nuclear co-adaptation as a key
evolutionary driver. Hypotheses regarding the roles of sex-linkage have emphasized Z …
evolutionary driver. Hypotheses regarding the roles of sex-linkage have emphasized Z …
DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients
A Skorczyk-Werner, K Tońska, A Maciejczuk… - International Journal of …, 2023 - mdpi.com
Leber hereditary optic neuropathy (LHON) is a rare disorder causing a sudden painless loss
of visual acuity in one or both eyes, affecting young males in their second to third decade of …
of visual acuity in one or both eyes, affecting young males in their second to third decade of …
An Unusual Presentation of Leber Hereditary Optic Neuropathy‐Plus Case Caused by a Novel DNAJC30 Variant
Leber hereditary optic neuropathy (LHON) is characterized by vision loss due to the
degeneration of retinal ganglion cells. LHON‐Plus refers to LHON with additional …
degeneration of retinal ganglion cells. LHON‐Plus refers to LHON with additional …
Stress-induced premature senescence in high five cell cultures: a principal factor in cell-density effects
R Min, D Zhang, M He, J Chen, X Yi… - Bioresources and …, 2024 - Springer
Abstract The Baculovirus Expression Vector System (BEVS) is highly valued in vaccine
development, protein engineering, and drug metabolism research due to its biosafety …
development, protein engineering, and drug metabolism research due to its biosafety …
Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals
TC Major, ES Arany, K Schon, M Simo… - Frontiers in …, 2023 - frontiersin.org
Background Leber Hereditary Optic Neuropathy (LHON) is the most common inherited
mitochondrial disease characterized by bilateral, painless, subacute visual loss with a peak …
mitochondrial disease characterized by bilateral, painless, subacute visual loss with a peak …
Autosomal recessive Leber Hereditary Optic Neuropathy in a patient with a Novel NDUFAF2 compound heterozygous mutation
IH Chen, HH Chang, HI Chiu, HC Cheng… - Journal of Neuro …, 2024 - journals.lww.com
Leber hereditary optic neuropathy (LHON) is a visionthreatening disease typically
presenting with subacute, simultaneous or sequential, bilateral painless loss of vision …
presenting with subacute, simultaneous or sequential, bilateral painless loss of vision …
Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy
C de Muijnck, JB Brink, HG de Haan, RJ Rodenburg… - Genes, 2024 - mdpi.com
Inherited optic neuropathies (IONs) are rare genetic diseases characterized by progressive
visual loss due the atrophy of optic nerves. The standard diagnostic workup involving next …
visual loss due the atrophy of optic nerves. The standard diagnostic workup involving next …
[HTML][HTML] Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m. 8969G> A
C de Muijnck, MJ van Schooneveld, AS Plomp… - American Journal of …, 2024 - Elsevier
Purpose To describe a case with Leber's hereditary optic neuropathy (LHON) like optic
atrophy in the presence of MT-ATP6 gene variant m. 8969G> A. Observations A 20-year-old …
atrophy in the presence of MT-ATP6 gene variant m. 8969G> A. Observations A 20-year-old …