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Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy.
Licchetta L, Ferri L, La Morgia C, Zenesini C, Caporali L, Lucia Valentino M, Minardi R, Fulitano D, Di Vito L, Mostacci B, Alvisi L, Avoni P, Liguori R, Tinuper P, Bisulli F, Carelli V. Licchetta L, et al. Ann Clin Transl Neurol. 2021 Mar;8(3):704-710. doi: 10.1002/acn3.51259. Epub 2021 Jan 21. Ann Clin Transl Neurol. 2021. PMID: 33476484 Free PMC article.
HL correlated with disease severity (Rho = 0.63, P = 0.012) and was significantly higher in patients with seizures or EEG abnormalities (P = 0.014). HL correlated with EEG severity score only for the m.8993T> G (Rho = 0.73, P = 0.040), showing a trend toward a positive …
HL correlated with disease severity (Rho = 0.63, P = 0.012) and was significantly higher in patients with seizures or EEG abnormalities (P = …
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 …
Biochemical consequences in yeast of the human mitochondrial DNA 8993T>C mutation in the ATPase6 gene found in NARP/MILS patients.
Kucharczyk R, Rak M, di Rago JP. Kucharczyk R, et al. Biochim Biophys Acta. 2009 May;1793(5):817-24. doi: 10.1016/j.bbamcr.2009.02.011. Epub 2009 Mar 6. Biochim Biophys Acta. 2009. PMID: 19269308 Free article.
We have created and analyzed the properties of a yeast model of the human mitochondrial DNA T8993C mutation that has been associated with maternally-inherited Leigh syndrome and/or with neurogenic muscle weakness, ataxia and retinitis pigmentosa. ...In …
We have created and analyzed the properties of a yeast model of the human mitochondrial DNA T8993C mutation that has been associated with …
ATP6 homoplasmic mutations inhibit and destabilize the human F1F0-ATP synthase without preventing enzyme assembly and oligomerization.
Cortés-Hernández P, Vázquez-Memije ME, García JJ. Cortés-Hernández P, et al. J Biol Chem. 2007 Jan 12;282(2):1051-8. doi: 10.1074/jbc.M606828200. Epub 2006 Nov 22. J Biol Chem. 2007. PMID: 17121862 Free article.
The molecular pathogenic mechanism of the human mitochondrial diseases neurogenic ataxia and retinitis pigmentosa and maternally inherited Leigh syndrome was determined in cultured human cells harboring homoplasmic T8993G/T8993C point mutations in the …
The molecular pathogenic mechanism of the human mitochondrial diseases neurogenic ataxia and retinitis pigmentosa and maternally i …