AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

Citrin and aralar1 are Ca2+-stimulated aspartate/glutamate transporters in mitochondria

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Signal Transduction, Molecular Physiology, Mitochondrial Function +5

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

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[25] Mitochondrial metabolite carrier proteins: Purification, reconstitution, and transport studies

Ferdinando Palmieri, Cesare Indiveri, Faustino Bisaccia et al. · Methods in enzymology on CD-ROM/Methods in enzymology · 1995 · 235 citations

Biochemistry, Mitochondrial Function, Natural Sciences +8

AGC1 Deficiency Associated with Global Cerebral Hypomyelination

Rolf Wibom, Francesco M. Lasorsa, Virpi Töhönen et al. · New England Journal of Medicine · 2009 · 170 citations · Full text

Neurological Disorder, Genetics, Agc1 Deficiency Associated +17

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

Florence Molinari, Annick Raas‐Rothschild, Marlène Rio et al. · The American Journal of Human Genetics · 2005 · 157 citations · Full text

Neurobiology Of Disease, Molecular Neuroscience, Neurophysiology +8