Associated Papers
Somatic Mutations in Nuclear and Mitochondrial Genes of Mitochondrial Proteins in Primary and Recurrent Glioblastoma.
Tompa M et al.
International Journal of Molecular Sciences, 2026
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Palmieri F et al.
Biomolecules, 2020
32340404 (PubMed )
Supplement: biomolecules-10-00655-s001.pdf
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.
von Renesse A et al.
Jimd Reports, 2019
Phenotypic spectrum of SLC25A4 mutations.
Finsterer J et al.
Biomedical Reports, 2018
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
27693233 (PubMed )
Supplement: mmc1.pdf
Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.
Körver-Keularts IM et al.
Jimd Reports, 2015
Mitochondrial transporters of the SLC25 family and associated diseases: a review.
Palmieri F
Journal of Inherited Metabolic Disease, 2014
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
Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.
Echaniz-Laguna A et al.
Journal of Medical Genetics, 2012
The mitochondrial transporter family SLC25: identification, properties and physiopathology.
Palmieri F
Molecular Aspects of Medicine, 0
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