| 1 | EIEE39, SLC25A12
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| AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
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| 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.
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| JIMD Rep 14:77-85. doi: 10.1007/8904_2013_287. Epub 2014 Feb 11. Erratum in: JIMD Rep. 2014;14:119.
2014
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| 2 | SLC25A12, SLC25A23, SLC25A41
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| Calcium-regulation of mitochondrial respiration maintains ATP homeostasis and requires ARALAR/AGC1-malate aspartate shuttle in intact cortical neurons
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| Llorente-Folch I, Rueda CB, Amigo I, del Arco A, Saheki T, Pardo B, Satrústegui J.
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| J Neurosci. Aug 28;33(35):13957-71, 13971a. doi: 10.1523/JNEUROSCI.0929-13.2013. 2013
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| 3 | EIEE39, SLC25A12
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| Slc25a12 disruption alters myelination and neurofilaments: a model for a hypomyelination syndrome and childhood neurodevelopmental disorders.
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| Sakurai T, Ramoz N, Barreto M, Gazdoiu M, Takahashi N, Gertner M, Dorr N, Gama Sosa MA, De Gasperi R, Perez G, Schmeidler J, Mitropoulou V, Le HC, Lupu M, Hof PR, Elder GA, Buxbaum JD.
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| Biol Psychiatry 67(9):887-94. doi: 10.1016/j.biopsych.2009.08.042. Epub 2009 Dec 16.
2010
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| 4 | EIEE39, SLC25A12
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| AGC1 deficiency associated with global cerebral hypomyelination.
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| Wibom R, Lasorsa FM, Töhönen V, Barbaro M, Sterky FH, Kucinski T, Naess K, Jonsson M, Pierri CL, Palmieri F, Wedell A.
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| N Engl J Med 361(5):489-95. doi: 10.1056/NEJMoa0900591. Erratum in: N Engl J Med. 2009 Aug 13;361(7):731.
2009
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| 5 | TIMM8A, TIMM13, SLC25A12, SLC25A13
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| The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.
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| Roesch K, Hynds PJ, Varga R, Tranebjaerg L, Koehler CM.
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| Hum Mol Genet 13(18):2101-11. Epub 2004 Jul 14. 2004
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| 6 | SLC25A12, SLC25A13, SLC25A22
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| Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria.
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| Palmieri L, Pardo B, Lasorsa FM, del Arco A, Kobayashi K, Iijima M, Runswick MJ, Walker JE, Saheki T, Satrustegui J, Palmieri F.
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| EMBO J 20(18):5060-9. 2001
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| 7 | SLC25A12
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| Assignment of the calcium-binding mitochondrial carrier Aralar1 gene (SLC25A12) to human chromosome band 2q31 by in situ hybridization.
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| Sanz R, del Arco A, Ayuso C, Ramos C, Satrustegui J.
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| Cytogenet Cell Genet 89(3-4):143-4. No abstract available. 2000
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| 8 | SLC25A12
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| Assignment(1) of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24.
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| Crackower MA, Sinasac DS, Lee JR, Herbrick J, Tsui L, Scherer SW.
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| Cytogenet Cell Genet 87(3-4):197-198. 1999
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| 9 | SLC25A12
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| Molecular cloning of Aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain.
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| del Arco A, Satrustegui J.
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| J Biol Chem 273(36):23327-34. 1998
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| 10 | SLC25A12
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| Integration of the cytogenetic, genetic, and physical maps of the human genome by FISH mapping of CEPH YAC clones.
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| Bray-Ward P, et al.
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| Genomics 32 : 1-14. 1996
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