Characterization of SURF-1 Expression and Surf-1p Function in Normal and Disease Conditions

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Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

Loss-of-function mutations of the SURF-1 gene have been associated with Leigh syndrome with cytochrome c oxidase (COX) deficiency. Mature Surf-1 protein (Surf-1p) is a 30 kDa hydrophobic polypeptide whose function is still unknown. Using antibodies against a recombinant, hemagglutinin-tagged Surf-1p, we have demonstrated that this protein is imported into mitochondria as a larger precursor, whi...

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ژورنال

عنوان ژورنال: Human Molecular Genetics

سال: 1999

ISSN: 0964-6906,1460-2083

DOI: 10.1093/hmg/8.13.2533