Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A4
Variant:p.A90D
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SLC25A4

NM_001151.4:p.A90D

Associated Papers

Stepwise ATP translocation into the endoplasmic reticulum by human SLC35B1.

Gulati A et al.

Nature, 2025

40399679 (PubMed )
Supplement: 41586_2025_9069_MOESM3_ESM.pdf

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

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Palmieri F et al.

Biomolecules, 2020

TIFAB Regulates USP15-Mediated p53 Signaling during Stressed and Malignant Hematopoiesis.

Niederkorn M et al.

Cell Reports, 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

Mitochondrial carrier protein overloading and misfolding induce aggresomes and proteostatic adaptations in the cytosol.

Liu Y et al.

Molecular Biology of the Cell, 2019

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

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

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

Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases.

Wang X et al.

Human Molecular Genetics, 2008

Evolutionarily conserved mammalian adenine nucleotide translocase 4 is essential for spermatogenesis.

Brower JV et al.

The Journal of Biological Chemistry, 2007

Mitochondrial dysfunction as the molecular basis of bipolar disorder: therapeutic implications.

Kato T

Cns Drugs, 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

A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.

Deschauer M et al.

Neuromuscular Disorders : Nmd, 2005

The mitochondrial transporter family SLC25: identification, properties and physiopathology.

Palmieri F

Molecular Aspects of Medicine, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."