Associated Papers
POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.
Borsche M et al.
Cerebellum (london, England), 2024
37085601 (PubMed )
Supplement: 12311_2023_1557_MOESM1_ESM.xlsx › Table_S2
POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity.
Young MJ et al.
Human Molecular Genetics, 2015
Biochemical analysis of human POLG2 variants associated with mitochondrial disease.
Young MJ et al.
Human Molecular Genetics, 2011
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