Mitochondrial and nuclear genomic response to loss of LRPPRC expression

Rapid advances in genotyping and sequencing technology have dramatically accelerated the discovery of genes underlying human disease. Elucidating the function of such genes and understanding their role in pathogenesis, however, remains challenging. Here, we introduce a genomic strategy to functionally characterize such genes, and apply it to LRPPRC (leucine-rich PPR-motif containing), a poorly studied gene that is mutated in Leigh Syndrome, French Canadian type (LSFC).

14

Gohil VM, Nilsson R, Belcher-Timme CA, Luo B, Root DE, Mootha VK