Citations for
1SLC25A20
Regulation of the human SLC25A20 expression by peroxisome proliferator-activated receptor alpha in human hepatoblastoma cells.
Tachibana K, Takeuchi K, Inada H, Yamasaki D, Ishimoto K, Tanaka T, Hamakubo T, Sakai J, Kodama T, Doi T.
Biochem Biophys Res Commun 389(3):501-5. Epub 2009 Sep 11.PMID: 19748481 2009
2SLC25A20
Functional characterization of residues within the carnitine/acylcarnitine translocase RX2PANAAXF distinct motif.
De Lucas JR, Indiveri C, Tonazzi A, Perez P, Giangregorio N, Iacobazzi V, Palmieri F.
Mol Membr Biol 25(2):152-63.PMID: 18307102 2008
3ANKRD20A1, CASKIN2, CFAP52, SLC25A20, SPATA20, WDR63
Identification and characterization of novel mammalian spermatogenic genes conserved from fly to human.
Bonilla E, Xu EY.
Mol Hum Reprod 14(3):137-42. Epub 2008 Feb 6.PMID: 18256174 2008
4CACT, SLC25A20
Prospective treatment in carnitine-acylcarnitine translocase deficiency.
Pierre G, Macdonald A, Gray G, Hendriksz C, Preece MA, Chakrapani A.
J Inherit Metab Dis 30(5):815. Epub 2007 May 12.PMID: 17508264 2007
5CACT, SLC25A20
Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest.
Lee RS, Lam CW, Lai CK, Yuen YP, Chan KY, Shek CC, Chan AY, Chow CB.
Hong Kong Med J 13(1):66-8.PMID: 17277394 2007
6CPT1A, CDSP, SLC22A5, SLC25A20, CACT, CPT2
Disorders of carnitine transport and the carnitine cycle.
Longo N, Amat di San Filippo C, Pasquali M.
Am J Med Genet C Semin Med Genet 142(2):77-85. Review. 2006
7SLC25A20, CACT
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.
Korman SH, Pitt JJ, Boneh A, Dweikat I, Zater M, Meiner V, Gutman A, Brivet M.
Mol Genet Metab 89(4):332-8. Epub 2006 Aug 17. 2006
8SLC25A20, CACT
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F.
Hum Mutat 24(4):312-20. 2004
9SLC25A20, SLC25A20P
Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family.
Yang BZ, Mallory JM, Roe DS, Brivet M, Strobel GD, Jones KM, Ding JH, Roe CR.
Mol Genet Metab 73(1):64-70. 2001
10SLC25A20
Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency.
Ogawa A, Yamamoto S, Kanazawa M, Takayanagi M, Hasegawa S, Kohno Y.
J Hum Genet 45(1):52-5. 2000
11SLC25A20
The structure and organization of the human carnitine/acylcarnitine translocase (CACT1) gene 2.
Iacobazzi V, et al.
Biochem Biophys Res Commun 252 : 770-774. 1998
12SLC25A20
The structure and organization of the human carnitine/acylcarnitine translocase (CACT1) gene2.
Iacobazzi V, Naglieri MA, Stanley CA, Wanders RJ, Palmieri F.
Biochem Biophys Res Commun 252(3):770-4. 1998
13SLC25A20, SLC25A20P
Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization.
Viggiano L, Iacobazzi V, Marzella R, Cassano C, Rocchi M, Palmieri F.
Cytogenet Cell Genet 79(1-2):62-3. 1997
14SLC25A20
The mitochondrial carnitine carrier protein : cDNA cloning, primary structure and comparison with other mitochondrial transport proteins.
Indiveri C, et al.
Biochem J 321 : 713-719. 1997
15SLC25A20
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.
Huizing M, Iacobazzi V, Ijlst L, Savelkoul P, Ruitenbeek W, van den Heuvel L, Indiveri C, Smeitink J, Trijbels F, Wanders R, Palmieri F.
Am J Hum Genet 61(6):1239-45. 1997
16SLC25A20
Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase.
Ogier de Baulny H, et al.
J Pediatr 127 : 723-728. 1995