Associated Papers
Age-associated accumulation of RAB9 disrupts oocyte meiosis.
Gao M et al.
Aging Cell, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Adenine nucleotide carrier protein dysfunction in human disease.
Mishra G et al.
Iubmb Life, 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
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study.
Rogac M et al.
Balkan Journal of Medical Genetics : Bjmg, 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
Consequences of inner mitochondrial membrane protein misfolding.
Coyne LP et al.
Mitochondrion, 2019
The ADP/ATP translocase drives mitophagy independent of nucleotide exchange.
Hoshino A et al.
Nature, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.
Goudenège D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.
von Renesse A et al.
Jimd Reports, 2019
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.
Lu C et al.
Journal of Translational Medicine, 2018
Cardiomyopathy-associated mutation in the ADP/ATP carrier reveals translation-dependent regulation of cytochrome c oxidase activity.
Ogunbona OB et al.
Molecular Biology of the Cell, 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
Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.
Körver-Keularts IM et al.
Jimd Reports, 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
Adenine nucleotide translocase 1 deficiency results in dilated cardiomyopathy with defects in myocardial mechanics, histopathological alterations, and activation of apoptosis.
Narula N et al.
Jacc. Cardiovascular Imaging, 2011
Human "nuclear" mitochondrial cardiomyopathy a novel mouse model characterizes the disease.
Arbustini E et al.
Jacc. Cardiovascular Imaging, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases.
Wang X et al.
Human Molecular Genetics, 2008
Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.
Palmieri L et al.
Human Molecular Genetics, 2005