000			nab a22 7a 4500
999			_c17844 _d17844
003			PC17844
005			20240514120148.0
008			240513b xxu||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_92401 _aCruz Bermúdez, Alberto _eInstituto de Investigación i+12
100			_93400 _aVicente Blanco, Ramiro J. _eInstituto de Investigación imas12
100			_92143 _aHernández Sierra, Rosana _eInstituto de Investigación I+12
100			_92665 _aBlázquez Encinar, Alberto _eInstituto de Investigación i+12
100			_93056 _aMartín, Miguel Ángel _eInstituto de investigación imas12
100			_9862 _aGaresse, Rafael _eInstituto de Investigación i+12
100			_9860 _aFernández Moreno, Miguel Ángel _eInstituto de Investigación i+12
245	0	0	_aFunctional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity. _h[artículo]
260			_bPloS one, _c2016
300			_a11(1):e0146816.
500			_aFormato Vancouver: Cruz Bermúdez A, Vicente Blanco RJ, Hernández Sierra R, Montero M, Alvarez J, González Manrique M et al. Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity. PLoS One. 2016 Jan 19;11(1):e0146816.
501			_aPMID: 26784702 PMC4718627
504			_aContiene 60 referencias
520			_aThe presence of more than one non-severe pathogenic mutation in the same mitochondrial DNA (mtDNA) molecule is very rare. Moreover, it is unclear whether their co-occurrence results in an additive impact on mitochondrial function relative to single mutation effects. Here we describe the first example of a mtDNA molecule harboring three Leber's hereditary optic neuropathy (LHON)-associated mutations (m.11778G>A, m.14484T>C, m.11253T>C) and the analysis of its genetic, biochemical and molecular characterization in transmitochondrial cells (cybrids). Extensive characterization of cybrid cell lines harboring either the 3 mutations or the single classic m.11778G>A and m.14484T>C mutations revealed no differences in mitochondrial function, demonstrating the absence of a synergistic effect in this model system. These molecular results are in agreement with the ophthalmological characteristics found in the triple mutant patient, which were similar to those carrying single mtDNA LHON mutations.
710			_9625 _aInstituto de Investigación imas12
856			_uhttps://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0146816&type=printable _yAcceso libre
942			_2ddc _cART _n0