4.7 Article

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability

Dario Ronchi et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Review Biochemistry & Molecular Biology

The pathways of mitophagy for quality control and clearance of mitochondria

G. Ashrafi et al.

CELL DEATH AND DIFFERENTIATION (2013)

Review Neurosciences

The optic nerve: A mito-window on mitochondrial neurodegeneration

Alessandra Maresca et al.

MOLECULAR AND CELLULAR NEUROSCIENCE (2013)

Article Biochemistry & Molecular Biology

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

Anne Kathrin Mueller-Rischart et al.

MOLECULAR CELL (2013)

Article Clinical Neurology

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

Caterina Garone et al.

ARCHIVES OF NEUROLOGY (2012)

Review Cell Biology

Guidelines for the use and interpretation of assays for monitoring autophagy

Daniel J. Klionsky et al.

AUTOPHAGY (2012)

Article Biochemistry & Molecular Biology

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

Virginie Agier et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2012)

Article Cell Biology

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

Derek Narendra et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2012)

Article Biochemistry & Molecular Biology

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

Ghizlane Elachouri et al.

GENOME RESEARCH (2011)

Article Multidisciplinary Sciences

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

Der-Fen Suen et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)

Article Biochemistry & Molecular Biology

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

A. Kathrin Lutz et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2009)

Article Cell Biology

Mitochondrial disorder with OPA1 mutation lacking optic atrophy

Margherita Milone et al.

MITOCHONDRION (2009)

Article Ophthalmology

OPA1 Deficiency Associated with Increased Autophagy in Retinal Ganglion Cells in a Murine Model of Dominant Optic Atrophy

Kathryn E. White et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2009)

Article Clinical Neurology

OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes

Patrizia Amati-Bonneau et al.

BRAIN (2008)

Article Genetics & Heredity

PINK1 heterozygous rare variants: Prevalence, significance and phenotypic spectrum

Roberta Marongiu et al.

HUMAN MUTATION (2008)

Article Clinical Neurology

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

Michelangelo Mancuso et al.

JOURNAL OF AFFECTIVE DISORDERS (2008)

Article Clinical Neurology

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle

Robert H. Baloh et al.

ARCHIVES OF NEUROLOGY (2007)

Article Biochemistry & Molecular Biology

Disorders of nuclear-mitochondrial intergenomic communication

Antonella Spinazzola et al.

BIOSCIENCE REPORTS (2007)

Article Genetics & Heredity

Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia

Matthew J. Longley et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2006)

Article Genetics & Heredity

eOPA1:: An online database for OPA1 mutations

M Ferré et al.

HUMAN MUTATION (2005)

Article Biophysics

Time-domain semi-parametric estimation based on a metabolite basis set

H Ratiney et al.

NMR IN BIOMEDICINE (2005)

Article Multidisciplinary Sciences

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

EM Valente et al.

SCIENCE (2004)

Article Biochemistry & Molecular Biology

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

UEA Pesch et al.

HUMAN MOLECULAR GENETICS (2001)

Article Multidisciplinary Sciences

Role of adenine nucleotide translocator 1 in mtDNA maintenance

J Kaukonen et al.

SCIENCE (2000)