Syndromic parkinsonism and dementia associated withOPA1missense mutations

Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability

(2013) Dario Ronchi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PRKCB/protein kinase C, beta and the mitochondrial axis as key regulators of autophagy

(2013) Simone Patergnani et al.   Autophagy

The E3 Ligase Parkin Maintains Mitochondrial Integrity by Increasing Linear Ubiquitination of NEMO

(2013) Anne Kathrin Müller-Rischart et al.   MOLECULAR CELL

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions

(2012) Caterina Garone et al.   ARCHIVES OF NEUROLOGY

Guidelines for the use and interpretation of assays for monitoring autophagy

(2012) Daniel J. Klionsky et al.   Autophagy

Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations

(2012) Virginie Agier et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse

(2012) Emmanuelle Sarzi et al.   BRAIN

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

(2012) D. Ronchi et al.   BRAIN

The pathways of mitophagy for quality control and clearance of mitochondria

(2012) G Ashrafi et al.   CELL DEATH AND DIFFERENTIATION

Mitochondrial quality control turns out to be the principal suspect in parkin and PINK1-related autosomal recessive Parkinson's disease

(2012) Olga Corti et al.   CURRENT OPINION IN NEUROBIOLOGY

The optic nerve: A “mito-window” on mitochondrial neurodegeneration

(2012) Alessandra Maresca et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Mitochondrial Quality Control Mediated by PINK1 and Parkin: Links to Parkinsonism

(2012) D. Narendra et al.   Cold Spring Harbor Perspectives in Biology

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

(2011) C. Rouzier et al.   BRAIN

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

(2011) H. Tyynismaa et al.   HUMAN MOLECULAR GENETICS

Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations

(2010) Raffaele Lodi et al.   ARCHIVES OF NEUROLOGY

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

(2010) P. Yu-Wai-Man et al.   BRAIN

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

(2010) G. Elachouri et al.   GENOME RESEARCH

Retinal Nerve Fiber Layer Thickness Measurement by Fourier-domain Optical Coherence Tomography: A Comparison Between Cirrus-HD OCT and RTVue in Healthy Eyes

(2010) Giacomo Savini et al.   JOURNAL OF GLAUCOMA

Parkin overexpression selects against a deleterious mtDNA mutation in heteroplasmic cybrid cells

(2010) D.-F. Suen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

(2009) Henna Tyynismaa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of Parkin or PINK1 Function Increases Drp1-dependent Mitochondrial Fragmentation

(2009) A. Kathrin Lutz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mitochondrial disorder with OPA1 mutation lacking optic atrophy

(2009) Margherita Milone et al.   MITOCHONDRION

PINK1heterozygous rare variants: prevalence, significance and phenotypic spectrum

(2008) Roberta Marongiu et al.   HUMAN MUTATION

Respiratory Complex I Dysfunction Due to Mitochondrial DNA Mutations Shifts the Voltage Threshold for Opening of the Permeability Transition Pore toward Resting Levels

(2008) Anna Maria Porcelli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus

(2008) C. L. Morgia et al.   NEUROLOGY

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

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

Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: Report of a family

(2007) Michelangelo Mancuso et al.   JOURNAL OF AFFECTIVE DISORDERS