1 | AGK, MTDPS10
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| Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.
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| 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.
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| Mol Cell 67(3):457-470.e5. doi: 10.1016/j.molcel.2017.06.014. Epub 2017 Jul 14.
2017
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2 | AGK, MTDPS10
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| Mutation in the AGK gene in two siblings with unusual Sengers syndrome.
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| Allali S, Dorboz I, Samaan S, Slama A, Rambaud C, Boespflug-Tanguy O, Sarret C.
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| Metab Brain Dis 32(6):2149-2154. doi: 10.1007/s11011-017-0101-6. Epub 2017 Sep 3.
2017
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3 | AGK, MTDPS10
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| Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria.
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| Vukotic M, Nolte H, König T, Saita S, Ananjew M, Krüger M, Tatsuta T, Langer T.
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| Mol Cell 67(3):471-483.e7. doi: 10.1016/j.molcel.2017.06.013. Epub 2017 Jul 14.
2017
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4 | AGK, MTDPS10
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| Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
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| 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.
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| Orphanet J Rare Dis 9:119. doi: 10.1186/s13023-014-0119-3. Review.
2014
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5 | AGK, MTDPS10
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| Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.
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| Siriwardena K, Mackay N, Levandovskiy V, Blaser S, Raiman J, Kantor PF, Ackerley C, Robinson BH, Schulze A, Cameron JM.
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| Mol Genet Metab 108(1):40-50. doi: 10.1016/j.ymgme.2012.11.282. Epub 2012 Dec 3.
2013
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6 | AGK, MTDPS10
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| Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
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| 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.
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| Am J Hum Genet 90(2):314-20. doi: 10.1016/j.ajhg.2011.12.005. Epub 2012 Jan 26.
2012
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7 | CACM2, MTDPS10
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| Neuroradiologic findings in Sengers syndrome.
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| Perry MS, Sladky JT.
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| Pediatr Neurol 39(2):113-5. 2008
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8 | MTDPS10
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| Sengers disease: a rare association of hypertrophic cardiomyopathy and congenital cataracts.
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| Atiq M, Iqbal S, Ibrahim S.
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| Indian J Pediatr 71(5):437-40. 2004
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9 | CACM2, MTDPS10
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| Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.
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| Morava E, Sengers R, Ter Laak H, Van Den Heuvel L, Janssen A, Trijbels F, Cruysberg H, Boelen C, Smeitink J.
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| Eur J Pediatr 163(8):467-71. Epub 2004 May 27. 2004
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