Associated Papers
The Mitochondrial F-box protein 1 and DJ-1 homolog HSP31 support cellular proteostasis during mitochondrial protein import clogging.
Mishra G et al.
Biorxiv : the Preprint Server for Biology, 2025
Genotype-Phenotype Correlation in Progressive External Ophthalmoplegia: Insights From a Retrospective Analysis.
Wang J et al.
Neuropathology and Applied Neurobiology, 2025
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
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 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
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Palmieri F et al.
Biomolecules, 2020
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.
Lehmann D et al.
Nucleic Acids Research, 2019
Phenotypic spectrum of SLC25A4 mutations.
Finsterer J et al.
Biomedical Reports, 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
A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.
Rocha MC et al.
Scientific Reports, 2015
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
Impaired transport of nucleotides in a mitochondrial carrier explains severe human genetic diseases.
Ravaud S et al.
Acs Chemical Biology, 2012
An 18-kDa translocator protein (TSPO) polymorphism explains differences in binding affinity of the PET radioligand PBR28.
Owen DR et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2012
SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia.
Park KP et al.
Journal of Clinical Neurology (seoul, Korea), 2011
Human "nuclear" mitochondrial cardiomyopathy a novel mouse model characterizes the disease.
Arbustini E et al.
Jacc. Cardiovascular Imaging, 2011
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
Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.
Kann M et al.
Annals of Neurology, 2002
A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.
Komaki H et al.
Annals of Neurology, 2002
[ANT1, twinkle, POLG mutation].
Komaki H et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
The human mitochondrial transport/carrier protein family. Nonsynonymous single nucleotide polymorphisms (nsSNPs) and mutations that lead to human diseases.
Wohlrab H
Biochimica Et Biophysica Acta, 0
The mitochondrial transporter family SLC25: identification, properties and physiopathology.
Palmieri F
Molecular Aspects of Medicine, 0