Associated Papers
Combined ketone body and glutamine supplementation restores aerobic energy production in AGC1-deficient neuronal progenitors.
Barile SN et al.
Cell Death & Disease, 2025
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Elkhateeb N et al.
Clinical Genetics, 2024
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
32340404 (PubMed )
Supplement: biomolecules-10-00655-s001.pdf
Expanding Phenotypic Spectrum of Cerebral Aspartate-Glutamate Carrier Isoform 1 (AGC1) Deficiency.
Pfeiffer B et al.
Neuropediatrics, 2020
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
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