Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion

MFN2 mutations cause compensatory mitochondrial DNA proliferation

(2012) Kamil S. Sitarz et al.   BRAIN

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

(2011) C. Rouzier et al.   BRAIN

Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation

(2011) Virginie Guillet et al.   FASEB JOURNAL

Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations

(2011) Brendan A I Payne et al.   NATURE GENETICS

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

(2010) Hsiuchen Chen et al.   CELL

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations

(2010) Jeffrey D. Stumpf et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Repeats, longevity and the sources of mtDNA deletions: evidence from ‘deletional spectra’

(2010) Xinhong Guo et al.   TRENDS IN GENETICS

Phenotypic spectrum of MFN2 mutations in the Spanish population

(2009) C. Casasnovas et al.   JOURNAL OF MEDICAL GENETICS

Mitofusins and OPA1 Mediate Sequential Steps in Mitochondrial Membrane Fusion

(2009) Zhiyin Song et al.   MOLECULAR BIOLOGY OF THE CELL

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease

(2009) Virginie Guillet et al.   NEUROGENETICS

Mitochondrial fusion and function in Charcot–Marie–Tooth type 2A patient fibroblasts with mitofusin 2 mutations

(2008) Elizabeth A. Amiott et al.   EXPERIMENTAL NEUROLOGY

Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases

(2008) Christophe Rocher et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Clonally Expanded Mitochondrial DNA Mutations in Epileptic Individuals With Mutated DNA Polymerase γ

(2008) Gábor Zsurka et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Analysis of mitochondrial function in situ in permeabilized muscle fibers, tissues and cells

(2008) Andrey V Kuznetsov et al.   Nature Protocols

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

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