Associated Papers
Modeling the different conformations of the human mitochondrial ADP/ATP carrier using AlphaFold and molecular dynamics simulations of the protein-ligand complexes.
Quadrotta V et al.
Computational and Structural Biotechnology Journal, 2025
Mitochondrial DNA depletion syndrome and its cardiac complication.
Bao S et al.
Frontiers in Cardiovascular Medicine, 2025
Adenine nucleotide carrier protein dysfunction in human disease.
Mishra G et al.
Iubmb Life, 2023
Comprehensive Molecular Characterization of Soft Tissue Sarcoma for Prediction of Pazopanib-Based Treatment Response.
Hong JY et al.
Cancer Research and Treatment, 2023
Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.
Yang J et al.
Cells, 2022
Kearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation.
Zhao H et al.
Neurosciences (riyadh, Saudi Arabia), 2022
Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report.
Kashiki T et al.
Brain & Development, 2022
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
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
TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.
da Silva EM et al.
Npj Breast Cancer, 2021
Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease.
Wang H et al.
Frontiers in Cardiovascular Medicine, 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
Phenotypic spectrum of SLC25A4 mutations.
Finsterer J et al.
Biomedical Reports, 2018
Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy.
King MS et al.
Neurology. Genetics, 2018
Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.
Puusepp S et al.
Molecular Genetics and Metabolism 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
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 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