Poulton J
From Bioblast
Name | Poulton J, |
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Publications
Published | Reference | |
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Alston 2018 Am J Hum Genet | 2018 | Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, BjΓΈrnstad A, Henneke L, GΓ€rtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW (2018) Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency. Am J Hum Genet 103:592-601. |
Cahill 2015 J Biol Chem | 2015 | Cahill TJ, Leo V, Kelly M, Stockenhuber A, Kennedy NW, Bao L, Cereghetti G, Harper AR, Czibik G, Lao C, Bellahcene M, Steeples V, Ghaffari S, Yavari A, Mayer A, Poulton J, Ferguson D, Scorrano L, Hettiarachchi NT, Peers C, Boyle J, Hill RB, Simmons A, Watkins H, Dear TN, Ashrafian H (2015) Resistance of dynamin-related protein 1 oligomers to disassembly impairs mitophagy resulting in myocardial inflammation and heart failure. J Biol Chem 290:25907-19. |
Haack 2010 Nat Genet | 2010 | Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes HW, Wittig I, Meitinger T, Zeviani M, Prokisch H (2010) Exome sequencing identifies ACAD9 mutations as a cause of Complex I deficiency. Nat Genet 42:1131-4. |
Blakely 2006 Pediatr Res | 2006 | Blakely EL, Rennie KJ, Jones L, Elstner M, Chrzanowska-Lightowlers ZMA, White CB, Shield JPH, Pilz DT, Turnbull DM, Poulton J, Taylor RW (2006) Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. Pediatr Res 59:440-4. |
Abstracts
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Johnston 2015 Abstract MiPschool London 2015 | 2015 | Stochastic modelling, Bayesian inference, and new in vivo measurements elucidate the debated mtDNA bottleneck mechanism. |