Article
Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene.
Muscle & nerve - 1 Aug 2002
Fagiolari Gigliola, Sciacco Monica, Chiveri Luca, Lamperti Costanza, Comi Giacomo Pietro, Scarlato Guglielmo, Moggio Maurizio, Prelle Alessandro
Abstract excerpt
Adenine nucleotide translocator-1 (ANT-1), encoded by chromosome 4 (4q34-35 locus), is a component of the mitochondrial permeability transition pores that are involved in apoptotic mechanisms. We studied muscle biopsies from seven individuals with autosomal dominant progressive external ophthalmoplegia caused by ANT-1 mutations. We found no instance of terminal deoxynucleotidyltransferase-mediated dUTP nick end...
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