[Molecular genetics of PINK1].

Abstract excerpt

PTEN-induced putative kinase 1 (PINK1) is a causative gene for autosomal recessive early onset parkinsonism. Mutations in PINK1 were identified originally in PARK6-linked parkinsonism families from Italy and Spain. PINK1 contains 8 exons spanning 1.8 kb, and encodes a protein of 581 amino acids with a mitochondrial targeting motif and a serine-threonine protein kinase domain. Until now PINK1-mutation positive...

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