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Genetic Variation of MT-ND Genes in Frontotemporal Lobar Degeneration: Biochemical Phenotype-Genotype Correlation.
Gaspar R, Santana I, Mendes C, Fernandes AS, Duro D, Simões M, Luís D, Santos MJ, Grazina M. Gaspar R, et al. Neurodegener Dis. 2015;15(2):70-80. doi: 10.1159/000380766. Epub 2015 Apr 3. Neurodegener Dis. 2015. PMID: 25871488
According to in silico analysis of nonsynonymous variants, only 5 variations are possibly or probably damaging. Complex I activity is significantly decreased in patients. CONCLUSION: To our knowledge, this is the first report of the complete sequence of the MT-ND ge …
According to in silico analysis of nonsynonymous variants, only 5 variations are possibly or probably damaging. Complex I activity is …
The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome.
Kanabus M, Fassone E, Hughes SD, Bilooei SF, Rutherford T, Donnell MO, Heales SJR, Rahman S. Kanabus M, et al. J Inherit Metab Dis. 2016 May;39(3):415-426. doi: 10.1007/s10545-016-9930-4. Epub 2016 Apr 14. J Inherit Metab Dis. 2016. PMID: 27080638 Free PMC article.
The effects of C10 were investigated in primary fibroblasts from a cohort of patients with Leigh syndrome (LS) caused by nuclear-encoded defects of respiratory chain complex I, using mitochondrial respiratory chain enzyme assays, gene expression microarray, qPCR and flow cytometr …
The effects of C10 were investigated in primary fibroblasts from a cohort of patients with Leigh syndrome (LS) caused by nuclear-encoded def …