Ontology highlight
ABSTRACT:
SUBMITTER: Suen DF
PROVIDER: S-EPMC2900690 | biostudies-literature | 2010 Jun
REPOSITORIES: biostudies-literature
Suen Der-Fen DF Narendra Derek P DP Tanaka Atsushi A Manfredi Giovanni G Youle Richard J RJ
Proceedings of the National Academy of Sciences of the United States of America 20100614 26
Mitochondrial genomes with deleterious mutations can replicate in cells along with wild-type genomes in a state of heteroplasmy, and are a cause of severe inherited syndromes, such as mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS), neuropathy, ataxia, retinitis pigmentosa-maternally inherited Leigh syndrome (NARP-MILS), and Leber's hereditary optic neuropathy (LHON). The cytosolic E3 ligase, Parkin, commonly mutated in recessive familial parkinsonism, translocates to ...[more]