Mitochondrial diseases
GS Gorman, PF Chinnery, S DiMauro… - Nature reviews Disease …, 2016 - nature.com
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in
oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) …
oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) …
Disturbed mitochondrial dynamics and neurodegenerative disorders
Mitochondria form a highly interconnected tubular network throughout the cell via a dynamic
process, with mitochondrial segments fusing and breaking apart continuously. Strong …
process, with mitochondrial segments fusing and breaking apart continuously. Strong …
[HTML][HTML] Mitochondrial optic neuropathies–disease mechanisms and therapeutic strategies
P Yu-Wai-Man, PG Griffiths, PF Chinnery - Progress in retinal and eye …, 2011 - Elsevier
Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (DOA) are
the two most common inherited optic neuropathies in the general population. Both disorders …
the two most common inherited optic neuropathies in the general population. Both disorders …
The mitochondrial proteome and human disease
For nearly three decades, the sequence of the human mitochondrial genome (mtDNA) has
provided a molecular framework for understanding maternally inherited diseases. However …
provided a molecular framework for understanding maternally inherited diseases. However …
[HTML][HTML] Real-world clinical experience with idebenone in the treatment of Leber hereditary optic neuropathy
CB Catarino, B von Livonius, C Priglinger… - Journal of Neuro …, 2020 - journals.lww.com
Background: Leber hereditary optic neuropathy (LHON) leads to bilateral central vision loss.
In a clinical trial setting, idebenone has been shown to be safe and to provide a trend toward …
In a clinical trial setting, idebenone has been shown to be safe and to provide a trend toward …
Gene therapy for Leber hereditary optic neuropathy: initial results
WJ Feuer, JC Schiffman, JL Davis, V Porciatti… - Ophthalmology, 2016 - Elsevier
Purpose Leber hereditary optic neuropathy (LHON) is a disorder characterized by severe
and rapidly progressive visual loss when caused by a mutation in the mitochondrial gene …
and rapidly progressive visual loss when caused by a mutation in the mitochondrial gene …
Multi-system neurological disease is common in patients with OPA1 mutations
P Yu-Wai-Man, PG Griffiths, GS Gorman, CM Lourenco… - Brain, 2010 - academic.oup.com
Additional neurological features have recently been described in seven families transmitting
pathogenic mutations in OPA1, the most common cause of autosomal dominant optic …
pathogenic mutations in OPA1, the most common cause of autosomal dominant optic …
Leber hereditary optic neuropathy: current perspectives
C Meyerson, G Van Stavern… - Clinical …, 2015 - Taylor & Francis
Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic
neuropathies causing bilateral central vision loss. The disorder results from point mutations …
neuropathies causing bilateral central vision loss. The disorder results from point mutations …
Mitochondrial function controls proliferation and early differentiation potential of embryonic stem cells
Pluripotent stem cells hold significant promise in regenerative medicine due to their
unlimited capacity for self-renewal and potential to differentiate into any cell type of the body …
unlimited capacity for self-renewal and potential to differentiate into any cell type of the body …
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
Dominant optic atrophy (DOA), and axonal peripheral neuropathy (Charcot-Marie-Tooth type
2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by …
2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by …