1 | MECREN, SLC25A42
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| A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.
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| Iuso A, Alhaddad B, Weigel C, Kotzaeridou U, Mastantuono E, Schwarzmayr T, Graf E, Terrile C, Prokisch H, Strom TM, Hoffmann GF, Meitinger T, Haack TB.
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| JIMD Rep ;44:1-7. doi: 10.1007/8904_2018_115. Epub 2018 Jun 20 2019
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2 | MECREN, SLC25A42
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| Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy
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| Almannai M, Alasmari A, Alqasmi A, Faqeih E, Al Mutairi F, Alotaibi M, Samman MM, Eyaid W, Aljadhai YI, Shamseldin HE, Craigen W, Alkuraya FS
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| Clin Genet. May;93(5):1097-1102. doi: 10.1111/cge.13210. Epub 2018 Mar 25. 2018
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3 | SLC25A42
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| Biochemical characterization of a new mitochondrial transporter of dephosphocoenzyme A in Drosophila melanogaster
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| Vozza A, De Leonardis F, Paradies E, De Grassi A, Pierri CL, Parisi G, Marobbio CMT, Lasorsa FM, Muto L, Capobianco L, Dolce V, Raho S, Fiermonte G.
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| Biochim Biophys Acta Bioenerg. Feb;1858(2):137-146. doi: 10.1016/j.bbabio.2016.11.006. Epub 2016 Nov 9. 2017
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4 | MECREN, SLC25A42
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| Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans. 2016
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| Shamseldin HE, Smith LL, Kentab A, Alkhalidi H, Summers B, Alsedairy H, Xiong Y, Gupta VA, Alkuraya FS.
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| Hum Genet. Jan;135(1):21-30. doi: 10.1007/s00439-015-1608-8. Epub 2015 Nov 5 2016
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5 | SLC25A42
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| A Novel Member of Solute Carrier Family 25 (SLC25A42) Is a Transporter of Coenzyme A and Adenosine 3',5'-Diphosphate in Human Mitochondria.
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| Fiermonte G, Paradies E, Todisco S, Marobbio CM, Palmieri F.
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| J Biol Chem 284(27):18152-9. Epub 2009 May 8.
2009
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6 | SLC25A33, SLC25A34, SLC25A37, SLC25A38, SLC25A39, SLC25A40, SLC25A41, SLC25A41, SLC25A42, SLC25A43, SLC25A44, SLC25A45, SLC25A46, UCP2
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| Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system.
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| Haitina T, Lindblom J, Renstrom T, Fredriksson R.
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| Genomics 88(6):779-90. Epub 2006 Sep 1. 2006
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