Associated Papers
Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy.
Dahlin M et al.
Brain Communications, 2025
40290421 (PubMed )
Supplement: fcaf134_supplementary_data.zip › Dahlin_et_al._Supplementary_table_3_revised.xlsx › Bara_EP
Inborn errors of the malate aspartate shuttle - Update on patients and cellular models.
Koch J et al.
Molecular Genetics and Metabolism, 2024
Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease.
Grønbæk-Thygesen M et al.
Cell & Bioscience, 2024
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
Bölsterli BK et al.
Nutrients, 2022
AGC1 Deficiency: Pathology and Molecular and Cellular Mechanisms of the Disease.
Pardo B et al.
International Journal of Molecular Sciences, 2022
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Palmieri F et al.
Biomolecules, 2020
Expanding Phenotypic Spectrum of Cerebral Aspartate-Glutamate Carrier Isoform 1 (AGC1) Deficiency.
Pfeiffer B et al.
Neuropediatrics, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Mitochondrial transporters of the SLC25 family and associated diseases: a review.
Palmieri F
Journal of Inherited Metabolic Disease, 2014
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
Falk MJ et al.
Jimd Reports, 2014
The role of amino acid transporters in inherited and acquired diseases.
Bröer S et al.
The Biochemical Journal, 2011
Structure and function of mitochondrial carriers - role of the transmembrane helix P and G residues in the gating and transport mechanism.
Palmieri F et al.
Febs Letters, 2010
AGC1 deficiency associated with global cerebral hypomyelination.
Wibom R et al.
The New England Journal of Medicine, 2009
The mitochondrial transporter family SLC25: identification, properties and physiopathology.
Palmieri F
Molecular Aspects of Medicine, 0
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