Inherited eye-related disorders due to mitochondrial dysfunction

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

(2017) Cécile Rouzier et al.   HUMAN MOLECULAR GENETICS

MtDNA-maintenance defects: syndromes and genes

(2017) Carlo Viscomi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Evaluating the therapeutic potential of idebenone and related quinone analogues in Leber hereditary optic neuropathy

(2017) Patrick Yu-Wai-Man et al.   MITOCHONDRION

Mitochondrial Donation — Clearing the Final Regulatory Hurdle in the United Kingdom

(2017) Mary Herbert et al.   NEW ENGLAND JOURNAL OF MEDICINE

First birth following spindle transfer for mitochondrial replacement therapy: hope and trepidation

(2017) Mina Alikani et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Live birth derived from oocyte spindle transfer to prevent mitochondrial disease

(2017) John Zhang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

A neurodegenerative perspective on mitochondrial optic neuropathies

(2016) Patrick Yu-Wai-Man et al.   ACTA NEUROPATHOLOGICA

The metabolomic signature of Leber’s hereditary optic neuropathy reveals endoplasmic reticulum stress

(2016) Juan Manuel Chao de la Barca et al.   BRAIN

Induced Pluripotent Stem Cells Meet Genome Editing

(2016) Dirk Hockemeyer et al.   Cell Stem Cell

Progressive External Ophthalmoplegia

(2016) Collin McClelland et al.   Current Neurology and Neuroscience Reports

The Emerging Network of Mitochondria-Organelle Contacts

(2016) Andrew Murley et al.   MOLECULAR CELL

Biomedicine: Replacing the cell's power plants

(2016) Eric A. Shoubridge   NATURE

Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease

(2016) Louise A. Hyslop et al.   NATURE

Induced pluripotent stem cell technology: a decade of progress

(2016) Yanhong Shi et al.   NATURE REVIEWS DRUG DISCOVERY

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy

(2016) Eszter Dombi et al.   NEUROLOGY

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations

(2016) Chunyan Liao et al.   NEUROLOGY

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

Syndromic parkinsonism and dementia associated withOPA1missense mutations

(2015) Valerio Carelli et al.   ANNALS OF NEUROLOGY

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

(2015) Ayman W. El-Hattab et al.   MOLECULAR GENETICS AND METABOLISM

Mutations causing mitochondrial disease: What is new and what challenges remain?

(2015) R. N. Lightowlers et al.   SCIENCE

Development and Applications of CRISPR-Cas9 for Genome Engineering

(2014) Patrick D. Hsu et al.   CELL

Treatment strategies for inherited optic neuropathies: past, present and future

(2014) P Yu-Wai-Man et al.   EYE

Disturbed mitochondrial dynamics and neurodegenerative disorders

(2014) Florence Burté et al.   Nature Reviews Neurology

Mitochondrial DNA: Impacting Central and Peripheral Nervous Systems

(2014) Valerio Carelli et al.   NEURON

Mitochondrial Reactive Oxygen Species (ROS) and ROS-Induced ROS Release

(2014) Dmitry B. Zorov et al.   PHYSIOLOGICAL REVIEWS

Differentiation of Retinal Ganglion Cells and Photoreceptor Precursors from Mouse Induced Pluripotent Stem Cells Carrying an Atoh7/Math5 Lineage Reporter

(2014) Bin-Bin Xie et al.   PLoS One

A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome

(2014) Simin Lu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Generation of three-dimensional retinal tissue with functional photoreceptors from human iPSCs

(2014) Xiufeng Zhong et al.   Nature Communications

Unsolved issues related to human mitochondrial diseases

(2013) Anne Lombès et al.   BIOCHIMIE

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

(2013) Haoyi Wang et al.   CELL

Wolfram Syndrome protein, Miner1, regulates sulphydryl redox status, the unfolded protein response, and Ca2+homeostasis

(2013) Sandra E. Wiley et al.   EMBO Molecular Medicine

New treatments for mitochondrial disease—no time to drop our standards

(2013) Gerald Pfeffer et al.   Nature Reviews Neurology

Mitochondrial Retinal Dystrophy Associated with the m.3243A>G Mutation

(2013) Paul de Laat et al.   OPHTHALMOLOGY

Dysfunctional mitochondrial maintenance: what breaks the circle of life?

(2012) P. Yu-Wai-Man et al.   BRAIN

MFN2, a new gene responsible for mitochondrial DNA depletion

(2012) Florence Renaldo et al.   BRAIN

Cell transplantation approaches to retinal ganglion cell neuroprotection in glaucoma

(2012) Thomas V Johnson et al.   CURRENT OPINION IN PHARMACOLOGY

Towards germline gene therapy of inherited mitochondrial diseases

(2012) Masahito Tachibana et al.   NATURE

Monogenic Mitochondrial Disorders

(2012) Werner J.H. Koopman et al.   NEW ENGLAND JOURNAL OF MEDICINE

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype

(2011) C. Rouzier et al.   BRAIN

Mitochondrial DNA disease: new options for prevention

(2011) L. Craven et al.   HUMAN MOLECULAR GENETICS

Impaired mitochondrial biogenesis, defective axonal transport of mitochondria, abnormal mitochondrial dynamics and synaptic degeneration in a mouse model of Alzheimer's disease

(2011) M. J. Calkins et al.   HUMAN MOLECULAR GENETICS

ER Tubules Mark Sites of Mitochondrial Division

(2011) J. R. Friedman et al.   SCIENCE

Neurologic features and genotype-phenotype correlation in Wolfram syndrome

(2010) Annabelle Chaussenot et al.   ANNALS OF NEUROLOGY

The Interplay Between Mitochondrial Dynamics and Mitophagy

(2010) Gilad Twig et al.   ANTIOXIDANTS & REDOX SIGNALING

Multi-system neurological disease is common in patients with OPA1 mutations

(2010) P. Yu-Wai-Man et al.   BRAIN

Mitochondrial Fusion Is Required for mtDNA Stability in Skeletal Muscle and Tolerance of mtDNA Mutations

(2010) Hsiuchen Chen et al.   CELL

An intimate liaison: spatial organization of the endoplasmic reticulum–mitochondria relationship

(2010) Olga Martins de Brito et al.   EMBO JOURNAL

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

(2010) G. Elachouri et al.   GENOME RESEARCH

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

(2010) Patrick Yu-Wai-Man et al.   HUMAN MOLECULAR GENETICS

Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells

(2010) Sonya G. Fonseca et al.   JOURNAL OF CLINICAL INVESTIGATION

The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations

(2010) Patrick Yu-Wai-Man et al.   OPHTHALMOLOGY

Genetic Screening for OPA1 and OPA3 Mutations in Patients with Suspected Inherited Optic Neuropathies

(2010) Patrick Yu-Wai-Man et al.   OPHTHALMOLOGY

Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

(2010) Patrick Yu-Wai-Man et al.   PROGRESS IN RETINAL AND EYE RESEARCH

OPA1 (dys)functions

(2010) Thomas Landes et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

The Neuro-ophthalmology of Mitochondrial Disease

(2010) J. Alexander Fraser et al.   SURVEY OF OPHTHALMOLOGY

Mitochondrial dynamics-fusion, fission, movement, and mitophagy-in neurodegenerative diseases

(2009) H. Chen et al.   HUMAN MOLECULAR GENETICS

Macular Dystrophy Associated With the A3243G Mitochondrial DNA Mutation

(2008) Michel Michaelides   ARCHIVES OF OPHTHALMOLOGY

How mitochondria produce reactive oxygen species

(2008) Michael P. Murphy   BIOCHEMICAL JOURNAL

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

(2008) J. D. Stewart et al.   NEUROLOGY

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

(2007) P. Amati-Bonneau et al.   BRAIN