Article
Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids.
Archives of neurology - 1 May 2005
Baracca Alessandra, Solaini Giancarlo, Sgarbi Gianluca, Lenaz Giorgio, Baruzzi Agostino, Schapira Anthony H V, Martinuzzi Andrea, Carelli Valerio
Abstract excerpt
BACKGROUND: Leber hereditary optic neuropathy (LHON) is a maternally inherited form of central vision loss associated with mitochondrial DNA point mutations that affect the ND subunits of complex I. OBJECTIVE: To elucidate the bioenergetic consequences of complex I dysfunction in LHON. DESIGN: The biochemical phenotypes of LHON mutations have been investigated using the transmitochondrial cytoplasmic hybrid...
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