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) …

Disturbed mitochondrial dynamics and neurodegenerative disorders

F Burté, V Carelli, PF Chinnery… - Nature reviews …, 2015 - nature.com
Mitochondria form a highly interconnected tubular network throughout the cell via a dynamic
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 mitochondrial proteome and human disease

SE Calvo, VK Mootha - Annual review of genomics and human …, 2010 - annualreviews.org
For nearly three decades, the sequence of the human mitochondrial genome (mtDNA) has
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 …

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 …

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 …

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 …

Mitochondrial function controls proliferation and early differentiation potential of embryonic stem cells

S Mandal, AG Lindgren, AS Srivastava, AT Clark… - Stem …, 2011 - academic.oup.com
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 …

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

AJ Abrams, RB Hufnagel, A Rebelo, C Zanna, N Patel… - Nature …, 2015 - nature.com
Dominant optic atrophy (DOA), and axonal peripheral neuropathy (Charcot-Marie-Tooth type
2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by …