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
Mitochondrial protein import clogging as a mechanism of disease.
Coyne LP et al.
Elife, 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
The SLC25 Carrier Family: Important Transport Proteins in Mitochondrial Physiology and Pathology.
Kunji ERS et al.
Physiology (bethesda, Md.), 2020
A high prevalence of arterial hypertension in patients with mitochondrial diseases.
Chong-Nguyen C et al.
Journal of Inherited Metabolic Disease, 2020
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Palmieri F et al.
Biomolecules, 2020
Consequences of inner mitochondrial membrane protein misfolding.
Coyne LP et al.
Mitochondrion, 2019
Mitochondrial carrier protein overloading and misfolding induce aggresomes and proteostatic adaptations in the cytosol.
Liu Y et al.
Molecular Biology of the Cell, 2019
Ant1 mutant mice bridge the mitochondrial and serotonergic dysfunctions in bipolar disorder.
Kato TM et al.
Molecular Psychiatry, 2018
Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function.
Dallabona C et al.
Biochemical and Biophysical Research Communications, 2017
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
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
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
Impaired transport of nucleotides in a mitochondrial carrier explains severe human genetic diseases.
Ravaud S et al.
Acs Chemical Biology, 2012
Nerve and muscle involvement in mitochondrial disorders: an electrophysiological study.
Mancuso M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2012
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
Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases.
Wang X et al.
Human Molecular Genetics, 2008
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
Virgilio R et al.
Journal of Neurology, 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
Mice with neuron-specific accumulation of mitochondrial DNA mutations show mood disorder-like phenotypes.
Kasahara T et al.
Molecular Psychiatry, 2006
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
Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain.
Del Bo R et al.
Neurology, 2003
Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene.
Fagiolari G et al.
Muscle & Nerve, 2002
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.
Napoli L et al.
Neurology, 2001
CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene.
Raffelsberger T et al.
Neurology, 2001
The mitochondrial transporter family SLC25: identification, properties and physiopathology.
Palmieri F
Molecular Aspects of Medicine, 0