Citations for
1MECREN, SLC25A42
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.
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.
JIMD Rep ;44:1-7. doi: 10.1007/8904_2018_115. Epub 2018 Jun 20 2019
2MECREN, SLC25A42
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy
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
Clin Genet. May;93(5):1097-1102. doi: 10.1111/cge.13210. Epub 2018 Mar 25. 2018
3SLC25A42
Biochemical characterization of a new mitochondrial transporter of dephosphocoenzyme A in Drosophila melanogaster
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.
Biochim Biophys Acta Bioenerg. Feb;1858(2):137-146. doi: 10.1016/j.bbabio.2016.11.006. Epub 2016 Nov 9. 2017
4MECREN, SLC25A42
Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans. 2016
Shamseldin HE, Smith LL, Kentab A, Alkhalidi H, Summers B, Alsedairy H, Xiong Y, Gupta VA, Alkuraya FS.
Hum Genet. Jan;135(1):21-30. doi: 10.1007/s00439-015-1608-8. Epub 2015 Nov 5 2016
5SLC25A42
A Novel Member of Solute Carrier Family 25 (SLC25A42) Is a Transporter of Coenzyme A and Adenosine 3',5'-Diphosphate in Human Mitochondria.
Fiermonte G, Paradies E, Todisco S, Marobbio CM, Palmieri F.
J Biol Chem 284(27):18152-9. Epub 2009 May 8. 2009
6SLC25A33, SLC25A34, SLC25A37, SLC25A38, SLC25A39, SLC25A40, SLC25A41, SLC25A41, SLC25A42, SLC25A43, SLC25A44, SLC25A45, SLC25A46, UCP2
Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system.
Haitina T, Lindblom J, Renstrom T, Fredriksson R.
Genomics 88(6):779-90. Epub 2006 Sep 1. 2006