Response to ''Is the BCS1L variant c.232A>G truly responsible for a GRACILE-like condition?''

Response to ''Is the BCS1L variant c.232A>G truly responsible for a GRACILE-like condition?''

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  • 1. Fellman V, Rapola J, Pihko H, Varilo T, Raivio KO. Iron overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. Lancet 1998; 351: 490-493.
  • 2. Visapää I, Fellman V, Vesa J, et al. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Gen 2002; 4: 863-876.
  • 3. Kotarsky H, Karikoski R, Mörgelin M, et al. Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. Mitochondrion 2010; 10: 497-509.
  • 4. Smet J, De Paepe B, Seneca S, et al. Complex III staining in blue native polyacrylamide gels. J Inherit Metab Dis 2011; 34: 741-747.
  • 5. Fellman V, Lemmelä S, Sajantila A, Pihko H, Järvelä I. Screening of BCS1L mutations in severe neonatal disorders suspective of mitochondrial cause. J Hum Genet 2008; 53: 554-558.
  • 6. Levéen P, Kotarsky H, Mörgelin M, Karikoski R, Elmér E, Fellman V. The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency – a viable mouse model for mitochondrial hepatopathy. Hepatology 2011; 53: 437-447.
  • 7. Kotarsky H, Keller M, Davoudi M, et al. Metabolite profiles reveal energy failure and impaired betaoxidation in liver of mice with complex III deficiency due to a BCS1L mutation. PLos One 2012; 7: e41156.
  • 8. Davoudi M, Kotarsky H, Hansson E, Kallijärvi J, Fellman V. COX7A2L/SCAFI and Pre-complex III modify respiratory chain supercomplex formation in different mouse strains with a Bcs1l mutation. Plos One 2016; 11: e0168774.
  • 9. Rajendran J, Tomasic N, Kotarsky H, et al. Effect of high-carbohydrate diet on plasma metabolome in mice with mitochondrial respiratory chain complex III deficiency. In J Mol Sci 2016; 17: E1824.
  • 10. Purhonen J, Rajendran J, Mörgelin M, et al. Ketogenic diet attenuates hepatopathy in mouse model of mitochondrial respiratory chain complex III deficiency caused by a Bcs1l mutation. Sci Reports 2017; 7: 957.
  • 11. Tegelberg S, Tomašic N, Kallijärvi J, et al. Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model. Orphanet J Rare Dis 2017; 12: 73.
  • 12. Serdaroglu E, Takci S, Kotarsky H, et al. A Turkish BCS1L mutation causes GRACILE-like disorder. Turk J Pediatr 2016; 58: 658-661.
Turkish Journal of Pediatrics-Cover
  • ISSN: 0041-4301
  • Yayın Aralığı: 6
  • Başlangıç: 1958
  • Yayıncı: Hacettepe Üniversitesi Çocuk Sağlığı Enstitüsü Müdürlüğü
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