1. Ventura, Ignacio, Revert, Fernando, Revert-Ros, Francisco, Prieto-Ruiz, Jesús A, Hernández-Andreu, José Miguel. 2022. SP1 and NFY Regulate the Expression of PNPT1, a Gene Encoding a Mitochondrial Protein Involved in Cancer. In International journal of molecular sciences, 23, . doi:10.3390/ijms231911399. https://pubmed.ncbi.nlm.nih.gov/36232701/
2. Barbier, Mathieu, Bahlo, Melanie, Pennisi, Alessandra, Lockhart, Paul J, Durr, Alexandra. 2022. Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25. In Annals of neurology, 92, 122-137. doi:10.1002/ana.26366. https://pubmed.ncbi.nlm.nih.gov/35411967/
3. Sato, R, Arai-Ichinoi, N, Kikuchi, A, Abe, T, Kure, S. 2017. Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination. In Clinical genetics, 93, 242-247. doi:10.1111/cge.13068. https://pubmed.ncbi.nlm.nih.gov/28594066/
4. Bamborschke, Daniel, Kreutzer, Mona, Koy, Anne, Lee-Kirsch, Min Ae, Cirak, Sebahattin. 2020. PNPT1 mutations may cause Aicardi-Goutières-Syndrome. In Brain & development, 43, 320-324. doi:10.1016/j.braindev.2020.10.005. https://pubmed.ncbi.nlm.nih.gov/33158637/
5. Mu, Guangyan, Xiang, Qian, Zhang, Zhuo, Qin, Xianhui, Cui, Yimin. 2020. PNPT1 and PCGF3 variants associated with angiotensin-converting enzyme inhibitor-induced cough: a nested case-control genome-wide study. In Pharmacogenomics, 21, 601-614. doi:10.2217/pgs-2019-0167. https://pubmed.ncbi.nlm.nih.gov/32397904/
6. Vanniya S, Paridhy, Chandru, Jayasankaran, Jeffrey, Justin Margret, Shomron, Noam, Srisailapathy, C R Srikumari. 2021. PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India. In Annals of human genetics, 86, 1-13. doi:10.1111/ahg.12442. https://pubmed.ncbi.nlm.nih.gov/34374074/
7. Ferrera, Giulia, Izzo, Rossella, Ghezzi, Daniele, Lamantea, Eleonora, Ardissone, Anna. 2023. A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood. In Neuropediatrics, 55, 135-139. doi:10.1055/a-2205-2402. https://pubmed.ncbi.nlm.nih.gov/37935417/