PhenomeGene — Human Disease Gene Website SeriesLRPPRC

Publications

Muthaffar OY et al. A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report. Front Pediatr. 2023 Nov 17;11:1288542. PMID: 38046674.

Yunxiao et al. Comprehensive review on leucine-rich pentatricopeptide repeat-containing protein (LRPPRC, PPR protein): A burgeoning target for cancer therapy.International Journal of Biological Macromolecules Volume 282, Part 3, December 2024, PMID: 39476900.

Harmel J et al. The leucine-rich pentatricopeptide repeat-containing protein (LRPPRC) does not activate transcription in mammalian mitochondria.J. Biol. Chem. 288: 15510-15519, 2013. PMID: 23599432.

Olahova M et al. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.Brain 138: 3503-3519, 2015. PMID: 26510951.