Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8261483 | Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease | 2012 | 7 Pages |
Abstract
⺠MtDNA haplogroup J and H mutation carriers have a different risk of suffering LHON. ⺠Cybrids allow the analysis of the cellular and molecular bases for the risk of LHON. ⺠MtDNA haplogroup J and H cybrids show phenotypic differences in OXPHOS function. ⺠MtDNA levels determine OXPHOS capacity. ⺠MtDNA levels may be responsible for the association of LHON with mtDNA haplogroups.
Keywords
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Ageing
Authors
Aurora Gómez-Durán, David Pacheu-Grau, Íñigo MartÃnez-Romero, Ester López-Gallardo, Manuel J. López-Pérez, Julio Montoya, Eduardo Ruiz-Pesini,