Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation
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DOI: 10.1002/humu.23658
Abstract: Mitochondrial dynamics and quality control are crucial for neuronal survival and their perturbation is a major cause of neurodegeneration. m‐AAA complex is an ATP‐dependent metalloprotease located in the inner mitochondrial membrane and involved in protein… read more here.
Keywords: opa1 processing; mitochondrial network; optic atrophy; parkinsonism ... See more keywords