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Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis.
Carrozzo R, Rizza T, Stringaro A, Pierini R, Mormone E, Santorelli FM, Malorni W, Matarrese P. Carrozzo R, et al. J Neurochem. 2004 Jul;90(2):490-501. doi: 10.1111/j.1471-4159.2004.02505.x. J Neurochem. 2004. PMID: 15228605 Free article.
We investigated whether two mitochondrial DNA mutations (L217R and L156R) associated with maternally-inherited Leigh syndrome may play a specific role in triggering the apoptotic cascade. ...This work provides the first evidence that hyperpolarization …
We investigated whether two mitochondrial DNA mutations (L217R and L156R) associated with maternally-inherited Leigh …
Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome.
Debray FG, Lambert M, Allard P, Mitchell GA. Debray FG, et al. J Child Neurol. 2010 Aug;25(8):1000-2. doi: 10.1177/0883073809351983. Epub 2010 May 14. J Child Neurol. 2010. PMID: 20472868
Muscle and liver biopsies were considered for respiratory chain studies, but because of hypocitrullinemia, molecular analysis for maternally inherited Leigh syndrome was first performed, revealing in both siblings the mitochondrial DNA T8993G mutation …
Muscle and liver biopsies were considered for respiratory chain studies, but because of hypocitrullinemia, molecular analysis for materna …
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation.
Debray FG, Lambert M, Lortie A, Vanasse M, Mitchell GA. Debray FG, et al. Am J Med Genet A. 2007 Sep 1;143A(17):2046-51. doi: 10.1002/ajmg.a.31880. Am J Med Genet A. 2007. PMID: 17663470 Review.
Mutations at mitochondrial DNA (mtDNA) nucleotide 8993 can cause neurogenic weakness, ataxia and retinitis pigmentosa (NARP syndrome), or maternally inherited Leigh syndrome (LS), with a correlation between the amount of mutant mtDNA and the severity o …
Mutations at mitochondrial DNA (mtDNA) nucleotide 8993 can cause neurogenic weakness, ataxia and retinitis pigmentosa (NARP syndrome), or …
3697G>A in MT-ND1 is a causative mutation in mitochondrial disease.
Spangenberg L, Graña M, Greif G, Suarez-Rivero JM, Krysztal K, Tapié A, Boidi M, Fraga V, Lemes A, Gueçaimburú R, Cerisola A, Sánchez-Alcázar JA, Robello C, Raggio V, Naya H. Spangenberg L, et al. Mitochondrion. 2016 May;28:54-9. doi: 10.1016/j.mito.2016.03.006. Epub 2016 Mar 24. Mitochondrion. 2016. PMID: 27017994