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Items: 19

Select item 61203431.

Structural Basis of Mitochondrial Receptor Binding and Constriction by DRP1

Raghav Kalia, Ray Yu-Ruei Wang, Ali Yusuf, Paul V. Thomas, David A. Agard, Janet M. Shaw, Adam Frost

Nature. Author manuscript; available in PMC 2018 Dec 13.

Published in final edited form as: Nature. 2018 Jun; 558(7710): 401–405. Published online 2018 Jun 13. doi: 10.1038/s41586-018-0211-2

PMCID:: PMC6120343

Abstract Article PDF–3.1M

Select item 51084862.

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

Alessia Nasca, Andrea Legati, Enrico Baruffini, Cecilia Nolli, Isabella Moroni, Anna Ardissone, Paola Goffrini, Daniele Ghezzi

Hum Mutat. 2016 Sep; 37(9): 898–903. Published online 2016 Jul 11. doi: 10.1002/humu.23033

PMCID:: PMC5108486

Abstract Article PDF–498K

Select item 51007403.

A Novel de novo Dominant Negative Mutation in DNM1L Impairs Mitochondrial Fission and Presents as Childhood Epileptic Encephalopathy

Jill A. Fahrner, Raymond Liu, M. Scott Perry, Jessica Klein, David C. Chan

Am J Med Genet A. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Am J Med Genet A. 2016 Aug; 170(8): 2002–2011. Published online 2016 May 4. doi: 10.1002/ajmg.a.37721

PMCID:: PMC5100740

Abstract Article PDF–2.3M

Select item 50708944.

Jason R Vanstone, Amanda M Smith, Skye McBride, Turaya Naas, Martin Holcik, Ghadi Antoun, Mary-Ellen Harper, Jean Michaud, Erick Sell, Pranesh Chakraborty, Martine Tetreault, Care4Rare Consortium, Jacek Majewski, Stephen Baird, Kym M Boycott, David A Dyment, Alex MacKenzie, Matthew A Lines

Eur J Hum Genet. 2016 Jul; 24(7): 1084–1088. Published online 2015 Nov 25. doi: 10.1038/ejhg.2015.243

PMCID:: PMC5070894

Abstract Article PDF–1.0M

Select item 50075915.

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila

Yu-Hsin Chao, Laurie A. Robak, Fan Xia, Mary K. Koenig, Adekunle Adesina, Carlos A. Bacino, Fernando Scaglia, Hugo J. Bellen, Michael F. Wangler

Hum Mol Genet. 2016 May 1; 25(9): 1846–1856. Published online 2016 Feb 29. doi: 10.1093/hmg/ddw059

PMCID:: PMC5007591

Abstract Article PDF–1.4M

Select item 38435066.

An Actin-Dependent Step in Mitochondrial Fission Mediated by the ER-Associated Formin INF2

Farida Korobova, Vinay Ramabhadran, Henry N. Higgs

Science. Author manuscript; available in PMC 2013 Nov 29.

Published in final edited form as: Science. 2013 Jan 25; 339(6118): 10.1126/science.1228360. doi: 10.1126/science.1228360

PMCID:: PMC3843506

Abstract Article PDF–2.3M

Select item 33665607.

ER Tubules Mark Sites of Mitochondrial Division

Jonathan R. Friedman, Laura L. Lackner, Matthew West, Jared R. DiBenedetto, Jodi Nunnari, Gia K. Voeltz

Science. Author manuscript; available in PMC 2012 Jun 4.

Published in final edited form as: Science. 2011 Oct 21; 334(6054): 358–362. Published online 2011 Sep 1. doi: 10.1126/science.1207385

PMCID:: PMC3366560

Abstract Article PDF–3.3M

Select item 30510258.

MUTANT HUNTINGTIN BINDS THE MITOCHONDRIAL FISSION GTPASE DRP1 AND INCREASES ITS ENZYMATIC ACTIVTY

Wenjun Song, Jin Chen, Alejandra Petrilli, Geraldine Liot, Eva Klinglmayr, Yue Zhou, Patrick Poquiz, Jonathan Tjong, Mahmoud A. Pouladi, Michael R. Hayden, Eliezer Masliah, Mark Ellisman, Isabelle Rouiller, Robert Schwarzenbacher, Blaise Bossy, Guy Perkins, Ella Bossy-Wetzel

Nat Med. Author manuscript; available in PMC 2011 Sep 1.

Published in final edited form as: Nat Med. 2011 Mar; 17(3): 377–382. Published online 2011 Feb 20. doi: 10.1038/nm.2313

PMCID:: PMC3051025

Abstract Article PDF–2.4M

Select item 29522519.

A Lethal de Novo Mutation in the Middle Domain of the Dynamin-related GTPase Drp1 Impairs Higher Order Assembly and Mitochondrial Division

Chuang-Rung Chang, Cara Marie Manlandro, Damien Arnoult, Julia Stadler, Ammon E. Posey, R. Blake Hill, Craig Blackstone

J Biol Chem. 2010 Oct 15; 285(42): 32494–32503. Published online 2010 Aug 9. doi: 10.1074/jbc.M110.142430

PMCID:: PMC2952251

Abstract Article PDF–1.9M

Select item 282337110.

S-Nitrosylation of Drp1 Mediates β-Amyloid–Related Mitochondrial Fission and Neuronal Injury

Dong-Hyung Cho, Tomohiro Nakamura, Jianguo Fang, Piotr Cieplak, Adam Godzik, Zezong Gu, Stuart A. Lipton

Science. Author manuscript; available in PMC 2010 Feb 17.

Published in final edited form as: Science. 2009 Apr 3; 324(5923): 102. doi: 10.1126/science.1171091

PMCID:: PMC2823371

Abstract Article PDF–1.1M

Select item 216891911.

Drp1 Mediates Caspase-Independent Type III Cell Death in Normal and Leukemic Cells

Marlène Bras, Victor J. Yuste, Gaël Roué, Sandrine Barbier, Patricia Sancho, Clémence Virely, Manuel Rubio, Sylvie Baudet, Josep E. Esquerda, Hélène Merle-Béral, Marika Sarfati, Santos A. Susin

Mol Cell Biol. 2007 Oct; 27(20): 7073–7088. Published online 2007 Aug 6. doi: 10.1128/MCB.02116-06