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AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Yiran G, Tian L, Palmieri F, Hakonarson H. Falk MJ, et al. Among authors: palmieri f. JIMD Rep. 2014;14:77-85. doi: 10.1007/8904_2013_287. Epub 2014 Feb 11. JIMD Rep. 2014. PMID: 24515575 Free PMC article.
Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Guo Y, Tian L, Palmieri F, Hakonarson H. Falk MJ, et al. Among authors: palmieri f. JIMD Rep. 2014;14:119. doi: 10.1007/8904_2014_314. Epub 2014 Jun 29. JIMD Rep. 2014. PMID: 24973975 Free PMC article. No abstract available.
AGC1 deficiency associated with global cerebral hypomyelination.
Wibom R, Lasorsa FM, Töhönen V, Barbaro M, Sterky FH, Kucinski T, Naess K, Jonsson M, Pierri CL, Palmieri F, Wedell A. Wibom R, et al. Among authors: palmieri f. N Engl J Med. 2009 Jul 30;361(5):489-95. doi: 10.1056/NEJMoa0900591. N Engl J Med. 2009. PMID: 19641205 Free article.
Down-regulation of the mitochondrial aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells.
Profilo E, Peña-Altamira LE, Corricelli M, Castegna A, Danese A, Agrimi G, Petralla S, Giannuzzi G, Porcelli V, Sbano L, Viscomi C, Massenzio F, Palmieri EM, Giorgi C, Fiermonte G, Virgili M, Palmieri L, Zeviani M, Pinton P, Monti B, Palmieri F, Lasorsa FM. Profilo E, et al. Among authors: palmieri l, palmieri em, palmieri f. Biochim Biophys Acta Mol Basis Dis. 2017 Jun;1863(6):1422-1435. doi: 10.1016/j.bbadis.2017.02.022. Epub 2017 Feb 21. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28235644 Free article.
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.
Punzi G, Porcelli V, Ruggiu M, Hossain MF, Menga A, Scarcia P, Castegna A, Gorgoglione R, Pierri CL, Laera L, Lasorsa FM, Paradies E, Pisano I, Marobbio CMT, Lamantea E, Ghezzi D, Tiranti V, Giannattasio S, Donati MA, Guerrini R, Palmieri L, Palmieri F, De Grassi A. Punzi G, et al. Among authors: palmieri l, palmieri f. Hum Mol Genet. 2018 Feb 1;27(3):499-504. doi: 10.1093/hmg/ddx419. Hum Mol Genet. 2018. PMID: 29211846 Free PMC article.
680 results