Associated Papers
Adenine nucleotide carrier protein dysfunction in human disease.
Mishra G et al.
Iubmb Life, 2023
Adenine nucleotide translocase: Current knowledge in post-translational modifications, regulations and pathological implications for human diseases.
Chen Y et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023
Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability.
Gilea AI et al.
Genes, 2021
A Yeast-Based Screening Unravels Potential Therapeutic Molecules for Mitochondrial Diseases Associated with Dominant ANT1 Mutations.
di Punzio G et al.
International Journal of Molecular Sciences, 2021
Nuclear Genes Associated with Mitochondrial DNA Processes as Contributors to Parkinson's Disease Risk.
Müller-Nedebock AC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Palmieri F et al.
Biomolecules, 2020
The ADP/ATP translocase drives mitophagy independent of nucleotide exchange.
Hoshino A et al.
Nature, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Phenotypic spectrum of SLC25A4 mutations.
Finsterer J et al.
Biomedical Reports, 2018
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
Thompson K et al.
American Journal of Human Genetics, 2016
Misfolding of mutant adenine nucleotide translocase in yeast supports a novel mechanism of Ant1-induced muscle diseases.
Liu Y et al.
Molecular Biology of the Cell, 2015
Phenotypic rescue of a Drosophila model of mitochondrial ANT1 disease.
Vartiainen S et al.
Disease Models & Mechanisms, 2014
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.
Strauss KA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Adenine nucleotide translocase, mitochondrial stress, and degenerative cell death.
Liu Y et al.
Oxidative Medicine and Cellular Longevity, 2013
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Neeve VC et al.
Brain : a Journal of Neurology, 2012
Impaired transport of nucleotides in a mitochondrial carrier explains severe human genetic diseases.
Ravaud S et al.
Acs Chemical Biology, 2012
adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria.
Kawamata H et al.
Human Molecular Genetics, 2011
Suppression of mitochondrial DNA instability of autosomal dominant forms of progressive external ophthalmoplegia-associated ANT1 mutations in Podospora anserina.
El-Khoury R et al.
Genetics, 2009
Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy.
Galassi G et al.
Neuromuscular Disorders : Nmd, 2008
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
Evolutionarily conserved mammalian adenine nucleotide translocase 4 is essential for spermatogenesis.
Brower JV et al.
The Journal of Biological Chemistry, 2007
Mutation D104G in ANT1 gene: complementation study in Saccharomyces cerevisiae as a model system.
Lodi T et al.
Biochemical and Biophysical Research Communications, 2006
The adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease.
Sharer JD
Iubmb Life, 2005
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.
Fontanesi F et al.
Human Molecular Genetics, 2004
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
Agostino A et al.
Neurology, 2003
Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.
Kann M et al.
Annals of Neurology, 2002
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.
Napoli L et al.
Neurology, 2001
Role of adenine nucleotide translocator 1 in mtDNA maintenance.
Kaukonen J et al.
Science (new York, N.y.), 2000
The mitochondrial transporter family SLC25: identification, properties and physiopathology.
Palmieri F
Molecular Aspects of Medicine, 0