Mutations in mitochondrial DNA and approaches for their correction

The Protein Import Machinery of Mitochondria—A Regulatory Hub in Metabolism, Stress, and Disease

(2014) Angelika B. Harbauer et al.   Cell Metabolism

Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations

(2014) P. A. Gammage et al.   EMBO Molecular Medicine

Characterization of chemically modified oligonucleotides targeting a pathogenic mutation in human mitochondrial DNA

(2013) Yann Tonin et al.   BIOCHIMIE

Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs

(2013) Sandra R Bacman et al.   NATURE MEDICINE

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

(2013) Gerald Pfeffer et al.   Nature Reviews Neurology

An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory’s experience

(2012) Jing Wang et al.   GENETICS IN MEDICINE

Towards germline gene therapy of inherited mitochondrial diseases

(2012) Masahito Tachibana et al.   NATURE

Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome

(2012) Caroline Comte et al.   NUCLEIC ACIDS RESEARCH

Gene delivery to mitochondria by targeting modified adenoassociated virus suppresses Leber's hereditary optic neuropathy in a mouse model

(2012) H. Yu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Correcting human mitochondrial mutations with targeted RNA import

(2012) G. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Therapies in inborn errors of oxidative metabolism

(2012) Manuel Schiff et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Human Mitochondrial tRNAs: Biogenesis, Function, Structural Aspects, and Diseases

(2011) Tsutomu Suzuki et al.   Annual Review of Genetics

Manipulation of mtDNA heteroplasmy in all striated muscles of newborn mice by AAV9-mediated delivery of a mitochondria-targeted restriction endonuclease

(2011) S R Bacman et al.   GENE THERAPY

Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria

(2011) O. Z. Karicheva et al.   NUCLEIC ACIDS RESEARCH

Efficient design and assembly of custom TALEN and other TAL effector-based constructs for DNA targeting

(2011) Tomas Cermak et al.   NUCLEIC ACIDS RESEARCH

The Mitochondrial Proteome and Human Disease

(2010) Sarah E. Calvo et al.   Annual Review of Genomics and Human Genetics

Leber’s Hereditary Optic Neuropathy

(2010) Alfredo A. Sadun et al.   Current Treatment Options in Neurology

Organ-specific shifts in mtDNA heteroplasmy following systemic delivery of a mitochondria-targeted restriction endonuclease

(2010) S R Bacman et al.   GENE THERAPY

A history of mitochondrial diseases

(2010) Salvatore DiMauro   JOURNAL OF INHERITED METABOLIC DISEASE

Ethics of modifying the mitochondrial genome

(2010) A. L. Bredenoord et al.   JOURNAL OF MEDICAL ETHICS

Assessing mitochondrial DNA nucleotide changes in spontaneous optic neuropathies

(2010) Thomas M. Bosley et al.   OPHTHALMIC GENETICS

Selection of RNA aptamers imported into yeast and human mitochondria

(2010) O. Kolesnikova et al.   RNA

The Distribution of Mitochondrial DNA Heteroplasmy Due to Random Genetic Drift

(2008) Passorn Wonnapinij et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The study of the pathogenic mechanism of mitochondrial diseases provides information on basic bioenergetics

(2008) Giancarlo Solaini et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes

(2008) Crystel Bonnet et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Mitochondrial disorders and general anaesthesia: a case series and review

(2008) E.J. Footitt et al.   BRITISH JOURNAL OF ANAESTHESIA

Selective elimination of mutant mitochondrial genomes as therapeutic strategy for the treatment of NARP and MILS syndromes

(2008) M F Alexeyev et al.   GENE THERAPY

Overexpressed mitochondrial leucyl-tRNA synthetase suppresses the A3243G mutation in the mitochondrial tRNALeu(UUR) gene

(2008) H. Park et al.   RNA