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CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
Strauss KA, Jinks RN, Puffenberger EG, Venkatesh S, Singh K, Cheng I, Mikita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A, Trovillion V, McGlincy M, Morlet T, Deardorff M, Innes AM, Prasad C, Chudley AE, Lee IN, Suzuki CK. Strauss KA, et al. Among authors: singh k. Am J Hum Genet. 2015 Jan 8;96(1):121-35. doi: 10.1016/j.ajhg.2014.12.003. Am J Hum Genet. 2015. PMID: 25574826 Free PMC article.
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.
Nimmo GAM, Venkatesh S, Pandey AK, Marshall CR, Hazrati LN, Blaser S, Ahmed S, Cameron J, Singh K, Ray PN, Suzuki CK, Yoon G. Nimmo GAM, et al. Among authors: singh k. Hum Mol Genet. 2019 Jan 15;28(2):290-306. doi: 10.1093/hmg/ddy351. Hum Mol Genet. 2019. PMID: 30304514 Free PMC article.
Multitasking in the mitochondrion by the ATP-dependent Lon protease.
Venkatesh S, Lee J, Singh K, Lee I, Suzuki CK. Venkatesh S, et al. Among authors: singh k. Biochim Biophys Acta. 2012 Jan;1823(1):56-66. doi: 10.1016/j.bbamcr.2011.11.003. Epub 2011 Nov 18. Biochim Biophys Acta. 2012. PMID: 22119779 Free PMC article. Review.
Evaluation of SSYA10-001 as a replication inhibitor of severe acute respiratory syndrome, mouse hepatitis, and Middle East respiratory syndrome coronaviruses.
Adedeji AO, Singh K, Kassim A, Coleman CM, Elliott R, Weiss SR, Frieman MB, Sarafianos SG. Adedeji AO, et al. Among authors: singh k. Antimicrob Agents Chemother. 2014 Aug;58(8):4894-8. doi: 10.1128/AAC.02994-14. Epub 2014 May 19. Antimicrob Agents Chemother. 2014. PMID: 24841268 Free PMC article.
9,879 results