Citations for
1AGK, MTDPS10
Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.
Kang Y, Stroud DA, Baker MJ, De Souza DP, Frazier AE, Liem M, Tull D, Mathivanan S, McConville MJ, Thorburn DR, Ryan MT, Stojanovski D.
Mol Cell 67(3):457-470.e5. doi: 10.1016/j.molcel.2017.06.014. Epub 2017 Jul 14. 2017
2AGK, MTDPS10
Mutation in the AGK gene in two siblings with unusual Sengers syndrome.
Allali S, Dorboz I, Samaan S, Slama A, Rambaud C, Boespflug-Tanguy O, Sarret C.
Metab Brain Dis 32(6):2149-2154. doi: 10.1007/s11011-017-0101-6. Epub 2017 Sep 3. 2017
3AGK, MTDPS10
Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria.
Vukotic M, Nolte H, König T, Saita S, Ananjew M, Krüger M, Tatsuta T, Langer T.
Mol Cell 67(3):471-483.e7. doi: 10.1016/j.molcel.2017.06.013. Epub 2017 Jul 14. 2017
4AGK, MTDPS10
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H.
Orphanet J Rare Dis 9:119. doi: 10.1186/s13023-014-0119-3. Review. 2014
5AGK, MTDPS10
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.
Siriwardena K, Mackay N, Levandovskiy V, Blaser S, Raiman J, Kantor PF, Ackerley C, Robinson BH, Schulze A, Cameron JM.
Mol Genet Metab 108(1):40-50. doi: 10.1016/j.ymgme.2012.11.282. Epub 2012 Dec 3. 2013
6AGK, MTDPS10
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, Superti-Furga A, Kirschner J, Steinmann B, Baumgartner MR, Moroni I, Lamantea E, Zeviani M, Rodenburg RJ, Smeitink J, Strom TM, Meitinger T, Sperl W, Prokisch H.
Am J Hum Genet 90(2):314-20. doi: 10.1016/j.ajhg.2011.12.005. Epub 2012 Jan 26. 2012
7CACM2, MTDPS10
Neuroradiologic findings in Sengers syndrome.
Perry MS, Sladky JT.
Pediatr Neurol 39(2):113-5. 2008
8MTDPS10
Sengers disease: a rare association of hypertrophic cardiomyopathy and congenital cataracts.
Atiq M, Iqbal S, Ibrahim S.
Indian J Pediatr 71(5):437-40. 2004
9CACM2, MTDPS10
Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.
Morava E, Sengers R, Ter Laak H, Van Den Heuvel L, Janssen A, Trijbels F, Cruysberg H, Boelen C, Smeitink J.
Eur J Pediatr 163(8):467-71. Epub 2004 May 27. 2004