| scholarly article | Q13442814 |
| P50 | author | Charlotte L Alston | Q54413253 |
| Tiziana Lodi | Q55691394 | ||
| Martin S King | Q56420802 | ||
| Cristina Dallabona | Q58242152 | ||
| Edmund R.S. Kunji | Q60057975 | ||
| Simon Jones | Q61953498 | ||
| Robert McFarland | Q63361321 | ||
| Katrin Ounap | Q64623453 | ||
| Pirjo Isohanni | Q87877875 | ||
| Orly Elpeleg | Q88164359 | ||
| Roshni Vara | Q88565556 | ||
| Robert William Taylor | Q89929096 | ||
| Karit Reinson | Q92491852 | ||
| Penelope E Bonnen | Q92863444 | ||
| Alon Haham | Q114316342 | ||
| Charu Deshpande | Q114316343 | ||
| Sanna Puusepp | Q114316344 | ||
| Ileana Ferrero | Q114316345 | ||
| Nitay D Fraenkel | Q114316346 | ||
| Richard J Rodenburg | Q41825611 | ||
| Ann Saada | Q41879584 | ||
| Inês C R Barbosa | Q42324000 | ||
| Homa Majd | Q42357017 | ||
| Michael Simpson | Q46630268 | ||
| P2093 | author name string | Anu Suomalainen | |
| Aviva Fattal-Valevski | |||
| Langping He | |||
| Kyle Thompson | |||
| P2860 | cites work | Role of adenine nucleotide translocator 1 in mtDNA maintenance | Q22254737 |
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| Molecular basis of base substitution hotspots in Escherichia coli | Q34183770 | ||
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| Identification of the mitochondrial ATP-Mg/Pi transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution. | Q34318261 | ||
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| A fourth ADP/ATP carrier isoform in man: identification, bacterial expression, functional characterization and tissue distribution | Q34388143 | ||
| A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy | Q34448160 | ||
| Mitochondrial carriers in the cytoplasmic state have a common substrate binding site | Q34479532 | ||
| In vivo and in organello assessment of OXPHOS activities | Q34675859 | ||
| Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy. | Q54541726 | ||
| Highly conserved charge-pair networks in the mitochondrial carrier family | Q56990020 | ||
| A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases | Q57536768 | ||
| A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator | Q61874674 | ||
| Diagnosis of fatal infantile defects of the mitochondrial respiratory chain: age dependence and postmortem analysis of enzyme activities | Q71367354 | ||
| Internal sequence repeats and the path of polypeptide in mitochondrial ADP/ATP translocase | Q72950549 | ||
| Whole exome sequencing of suspected mitochondrial patients in clinical practice. | Q35607615 | ||
| Misfolding of mutant adenine nucleotide translocase in yeast supports a novel mechanism of Ant1-induced muscle diseases. | Q35754848 | ||
| The role and structure of mitochondrial carriers | Q35757351 | ||
| Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy | Q35800969 | ||
| Eukaryotic membrane protein overproduction in Lactococcus lactis | Q36249455 | ||
| Mitochondrial disease in mouse results in increased oxidative stress | Q36331851 | ||
| Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup | Q36653669 | ||
| Biochemical assays of respiratory chain complex activity | Q36796192 | ||
| Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral | Q36927199 | ||
| Adenine nucleotide translocase, mitochondrial stress, and degenerative cell death. | Q37067659 | ||
| The ADP and ATP transport in mitochondria and its carrier | Q37176693 | ||
| Mitochondrial DNA depletion syndromes--many genes, common mechanisms | Q37742894 | ||
| Mitochondrial transporters of the SLC25 family and associated diseases: a review | Q38209474 | ||
| Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy | Q38510101 | ||
| Mutations causing mitochondrial disease: What is new and what challenges remain? | Q38592664 | ||
| Controlled gene expression systems for Lactococcus lactis with the food-grade inducer nisin. | Q39800765 | ||
| Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. | Q41924560 | ||
| Formation of a cytoplasmic salt bridge network in the matrix state is a fundamental step in the transport mechanism of the mitochondrial ADP/ATP carrier. | Q42111925 | ||
| Predicting functional effect of human missense mutations using PolyPhen-2. | Q42406410 | ||
| Expression of the bovine heart mitochondrial ADP/ATP carrier in yeast mitochondria: significantly enhanced expression by replacement of the N-terminal region of the bovine carrier by the corresponding regions of the yeast carriers | Q42689258 | ||
| Lipid, detergent, and Coomassie Blue G-250 affect the migration of small membrane proteins in blue native gels: mitochondrial carriers migrate as monomers not dimers. | Q43072393 | ||
| Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene. | Q44301583 | ||
| Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability | Q44797011 | ||
| The substrate specificity of the human ADP/ATP carrier AAC1. | Q45565216 | ||
| Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor | Q46100224 | ||
| A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia | Q46406206 | ||
| Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy | Q46697083 | ||
| In vivo analysis of mtDNA replication defects in yeast | Q47404088 | ||
| Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. | Q51708433 | ||
| The transport mechanism of the mitochondrial ADP/ATP carrier. | Q52669660 | ||
| P433 | issue | 4 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | mitochondrial DNA | Q27075 |
| mitochondrion | Q39572 | ||
| mitochondrial disease | Q935710 | ||
| Solute carrier family 25 member 4 | Q21111224 | ||
| ADP transport | Q21121324 | ||
| P304 | page(s) | 860-876 | |
| P577 | publication date | 2016-09-29 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number | |
| P478 | volume | 99 |
| Q92543630 | A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia |
| Q50421965 | Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder |
| Q47422151 | Biallelic Mutations in Mitochondrial Tryptophanyl-tRNA Synthetase Cause Levodopa-Rresponsive Infantile-Onset Parkinsonism |
| Q49795380 | Cardiolipin dynamics and binding to conserved residues in the mitochondrial ADP/ATP carrier |
| Q42377883 | Cdkal1, a type 2 diabetes susceptibility gene, regulates mitochondrial function in adipose tissue. |
| Q58805990 | Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23) |
| Q61795898 | Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions |
| Q47444829 | De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction |
| Q41686865 | De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities |
| Q90223848 | Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia |
| Q61805012 | Emerging Roles in the Biogenesis of Cytochrome Oxidase for Members of the Mitochondrial Carrier Family |
| Q59127599 | Expanding the clinical phenotype of IARS2-related mitochondrial disease |
| Q90480177 | Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy |
| Q50194021 | Inborn errors of metabolism and the human interactome: a systems medicine approach |
| Q93109133 | Marek's Disease Virus Infection Induced Mitochondria Changes in Chickens |
| Q38687531 | Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link? |
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| Q93211778 | Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy |
| Q90218957 | Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency |
| Q57039833 | Pathogenic variants in glutamyl-tRNA amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder |
| Q90260959 | Phenotypic spectrum of SLC25A4 mutations |
| Q90296962 | Recent advances in understanding the molecular genetic basis of mitochondrial disease |
| Q90748326 | The ADP/ATP translocase drives mitophagy independent of nucleotide exchange |
| Q49991801 | The functional genomics laboratory: functional validation of genetic variants |
| Q37560946 | The genetics and pathology of mitochondrial disease. |
| Q63359293 | mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect |
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