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Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria.
Akman G, Desai R, Bailey LJ, Yasukawa T, Dalla Rosa I, Durigon R, Holmes JB, Moss CF, Mennuni M, Houlden H, Crouch RJ, Hanna MG, Pitceathly RD, Spinazzola A, Holt IJ. Akman G, et al. Among authors: desai r. Proc Natl Acad Sci U S A. 2016 Jul 26;113(30):E4276-85. doi: 10.1073/pnas.1600537113. Epub 2016 Jul 8. Proc Natl Acad Sci U S A. 2016. PMID: 27402764 Free PMC article.
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt IJ, Thorburn DR, Spinazzola A. Desai R, et al. Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094. Brain. 2017. PMID: 28549128 Free PMC article.
Transglutaminase Type 2 Regulates ER-Mitochondria Contact Sites by Interacting with GRP75.
D'Eletto M, Rossin F, Occhigrossi L, Farrace MG, Faccenda D, Desai R, Marchi S, Refolo G, Falasca L, Antonioli M, Ciccosanti F, Fimia GM, Pinton P, Campanella M, Piacentini M. D'Eletto M, et al. Among authors: desai r. Cell Rep. 2018 Dec 26;25(13):3573-3581.e4. doi: 10.1016/j.celrep.2018.11.094. Cell Rep. 2018. PMID: 30590033 Free article.
Mitochondria form contact sites with the nucleus to couple prosurvival retrograde response.
Desai R, East DA, Hardy L, Faccenda D, Rigon M, Crosby J, Alvarez MS, Singh A, Mainenti M, Hussey LK, Bentham R, Szabadkai G, Zappulli V, Dhoot GK, Romano LE, Xia D, Coppens I, Hamacher-Brady A, Chapple JP, Abeti R, Fleck RA, Vizcay-Barrena G, Smith K, Campanella M. Desai R, et al. Sci Adv. 2020 Dec 18;6(51):eabc9955. doi: 10.1126/sciadv.abc9955. Print 2020 Dec. Sci Adv. 2020. PMID: 33355129 Free PMC article.
1,883 results