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Mitochondrial double-stranded RNA triggers antiviral signalling in humans.
Dhir A, Dhir S, Borowski LS, Jimenez L, Teitell M, Rötig A, Crow YJ, Rice GI, Duffy D, Tamby C, Nojima T, Munnich A, Schiff M, de Almeida CR, Rehwinkel J, Dziembowski A, Szczesny RJ, Proudfoot NJ. Dhir A, et al. Among authors: munnich a. Nature. 2018 Aug;560(7717):238-242. doi: 10.1038/s41586-018-0363-0. Epub 2018 Jul 25. Nature. 2018. PMID: 30046113 Free PMC article.
[Mitochondrial disorders].
Munnich A, de Lonlay P, Rötig A, Rustin P. Munnich A, et al. Bull Acad Natl Med. 2009 Jan;193(1):19-41; discussion 41-3. Bull Acad Natl Med. 2009. PMID: 19718979 French.
[Mitochondrial diabetes].
Rötig A, Bonnefont JP, Munnich A. Rötig A, et al. Among authors: munnich a. Journ Annu Diabetol Hotel Dieu. 1997:33-42. Journ Annu Diabetol Hotel Dieu. 1997. PMID: 9296988 Review. French. No abstract available.
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Pennisi A, Rötig A, Roux CJ, Lévy R, Henneke M, Gärtner J, Teke Kisa P, Sarioglu FC, Yiş U, Konczal LL, Burkardt DD, Wu S, Gaignard P, Besmond C, Hubert L, Rio M, Barcia G, Munnich A, Boddaert N, Schiff M. Pennisi A, et al. Among authors: munnich a. J Med Genet. 2022 Feb;59(2):204-208. doi: 10.1136/jmedgenet-2020-107367. Epub 2020 Nov 16. J Med Genet. 2022. PMID: 33199448
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
Vedrenne V, Gowher A, De Lonlay P, Nitschke P, Serre V, Boddaert N, Altuzarra C, Mager-Heckel AM, Chretien F, Entelis N, Munnich A, Tarassov I, Rötig A. Vedrenne V, et al. Among authors: munnich a. Am J Hum Genet. 2012 Nov 2;91(5):912-8. doi: 10.1016/j.ajhg.2012.09.001. Epub 2012 Oct 18. Am J Hum Genet. 2012. PMID: 23084291 Free PMC article.
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.
Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V. Le Goff C, et al. Among authors: munnich a. Nat Genet. 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199. Nat Genet. 2008. PMID: 18677313 Free PMC article.
1,063 results