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Select item 98603921.

The N-terminal domain of human mitochondrial helicase Twinkle has DNA-binding activity crucial for supporting processive DNA synthesis by polymerase γ

Laura C. Johnson, Anupam Singh, Smita S. Patel

J Biol Chem. 2023 Jan; 299(1): 102797. Published online 2022 Dec 14. doi: 10.1016/j.jbc.2022.102797

PMCID:: PMC9860392

Abstract Article PDF–3.2M

Select item 93717092.

Structural insight and characterization of human Twinkle helicase in mitochondrial disease

Amanda A. Riccio, Jonathan Bouvette, Lalith Perera, Matthew J. Longley, Juno M. Krahn, Jason G. Williams, Robert Dutcher, Mario J. Borgnia, William C. Copeland

Proc Natl Acad Sci U S A. 2022 Aug 9; 119(32): e2207459119. Published online 2022 Aug 1. doi: 10.1073/pnas.2207459119

PMCID:: PMC9371709

Abstract Article PDF–1.9M

Select item 71861783.

Single-molecule level structural dynamics of DNA unwinding by human mitochondrial Twinkle helicase

Parminder Kaur, Matthew J. Longley, Hai Pan, Wendy Wang, Preston Countryman, Hong Wang, William C. Copeland

J Biol Chem. 2020 Apr 24; 295(17): 5564–5576. Published online 2020 Mar 25. doi: 10.1074/jbc.RA120.012795

PMCID:: PMC7186178

Abstract Article PDF–2.3M

Select item 67128014.

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

María Domínguez-Ruiz, Alberto García-Martínez, Marc Corral-Juan, Ángel I. Pérez-Álvarez, Ana M. Plasencia, Manuela Villamar, Miguel A. Moreno-Pelayo, Antoni Matilla-Dueñas, Manuel Menéndez-González, Ignacio del Castillo

J Transl Med. 2019; 17: 290. Published online 2019 Aug 28. doi: 10.1186/s12967-019-2041-x

PMCID:: PMC6712801

Abstract Article PDF–1.6M

Select item 67127975.

Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report

Xianghong Li, Liangshan Li, Yaqi Sun, Fuyan Lv, Guoqing Zhang, Wenmiao Liu, Meiyan Zhang, Hong Jiang, Shiguo Liu

BMC Med Genet. 2019; 20: 146. Published online 2019 Aug 27. doi: 10.1186/s12881-019-0875-y

PMCID:: PMC6712797

Abstract Article PDF–1.3M

Select item 64234186.

Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase

Bradley Peter, Geraldine Farge, Carlos Pardo-Hernandez, Stefan Tångefjord, Maria Falkenberg

Hum Mol Genet. 2019 Apr 1; 28(7): 1090–1099. Published online 2018 Nov 29. doi: 10.1093/hmg/ddy415

Correction in:: Hum Mol Genet. 2020 Feb 1; 29(3): 528.

PMCID:: PMC6423418

Abstract Article PDF–33M

Select item 57611567.

Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes

Gülsah Aydin, Gabriele Dekomien, Sabine Hoffjan, Wanda Maria Gerding, Jörg T. Epplen, Larissa Arning

BMC Neurol. 2018; 18: 3. Published online 2018 Jan 9. doi: 10.1186/s12883-017-1009-9

PMCID:: PMC5761156

Abstract Article PDF–496K

Select item 52996848.

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome

Monika Ołdak, Dominika Oziębło, Agnieszka Pollak, Iwona Stępniak, Michal Lazniewski, Urszula Lechowicz, Krzysztof Kochanek, Mariusz Furmanek, Grażyna Tacikowska, Dariusz Plewczynski, Tomasz Wolak, Rafał Płoski, Henryk Skarżyński

J Transl Med. 2017; 15: 25. Published online 2017 Feb 8. doi: 10.1186/s12967-017-1129-4

PMCID:: PMC5299684

Abstract Article PDF–3.4M

Select item 49331869.

Biochemical Characterization of the Human Mitochondrial Replicative Twinkle Helicase: SUBSTRATE SPECIFICITY, DNA BRANCH MIGRATION, AND ABILITY TO OVERCOME BLOCKADES TO DNA UNWINDING

Irfan Khan, Jack D. Crouch, Sanjay Kumar Bharti, Joshua A. Sommers, Sean M. Carney, Elena Yakubovskaya, Miguel Garcia-Diaz, Michael A. Trakselis, Robert M. Brosh, Jr.

J Biol Chem. 2016 Jul 1; 291(27): 14324–14339. Published online 2016 May 11. doi: 10.1074/jbc.M115.712026

PMCID:: PMC4933186

Abstract Article PDF–2.2M

Select item 487209110.

Homologous DNA strand exchange activity of the human mitochondrial DNA helicase TWINKLE

Doyel Sen, Gayatri Patel, Smita S. Patel

Nucleic Acids Res. 2016 May 19; 44(9): 4200–4210. Published online 2016 Feb 16. doi: 10.1093/nar/gkw098

PMCID:: PMC4872091

Abstract Article PDF–2.4M

Select item 441715311.

The hexameric structure of the human mitochondrial replicative helicase Twinkle

Pablo Fernández-Millán, Melisa Lázaro, Şirin Cansız-Arda, Joachim M. Gerhold, Nina Rajala, Claus-A. Schmitz, Cristina Silva-Espiña, David Gil, Pau Bernadó, Mikel Valle, Johannes N. Spelbrink, Maria Solà

Nucleic Acids Res. 2015 Apr 30; 43(8): 4284–4295. Published online 2015 Mar 30. doi: 10.1093/nar/gkv189

PMCID:: PMC4417153

Abstract Article PDF–3.7M

Select item 424845112.

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

Hiroyuki Morino, Sarah B. Pierce, Yukiko Matsuda, Tom Walsh, Ryosuke Ohsawa, Marta Newby, Keiko Hiraki-Kamon, Masahito Kuramochi, Ming K. Lee, Rachel E. Klevit, Alan Martin, Hirofumi Maruyama, Mary-Claire King, Hideshi Kawakami

Neurology. 2014 Nov 25; 83(22): 2054–2061. doi: 10.1212/WNL.0000000000001036

PMCID:: PMC4248451

Abstract Article PDF–834K

Select item 420800613.

DNA Sequences Proximal to Human Mitochondrial DNA Deletion Breakpoints Prevalent in Human Disease Form G-quadruplexes, a Class of DNA Structures Inefficiently Unwound by the Mitochondrial Replicative Twinkle Helicase

Sanjay Kumar Bharti, Joshua A. Sommers, Jun Zhou, Daniel L. Kaplan, Johannes N. Spelbrink, Jean-Louis Mergny, Robert M. Brosh, Jr.

J Biol Chem. 2014 Oct 24; 289(43): 29975–29993. Published online 2014 Sep 5. doi: 10.1074/jbc.M114.567073

PMCID:: PMC4208006

Abstract Article PDF–4.6M

Select item 410277214.

Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy

Mi-Hyun Park, Hae-Mi Woo, Young Bin Hong, Ji Hoon Park, Bo Ram Yoon, Jin-Mo Park, Jeong Hyun Yoo, Heasoo Koo, Jong-Hee Chae, Ki Wha Chung, Byung-Ok Choi, Soo Kyung Koo

Neurogenetics. 2014; 15(3): 171–182. Published online 2014 May 10. doi: 10.1007/s10048-014-0405-1

PMCID:: PMC4102772

Abstract Article PDF–1.9M

Select item 397301715.

Longitudinal Clinical Follow-up of a Large Family With the R357P Twinkle Mutation

Carmen Paradas, Pilar Camaño, David Otaegui, Oguzhan Oz, Valentina Emmanuele, Salvatore DiMauro, Michio Hirano

JAMA Neurol. Author manuscript; available in PMC 2014 Apr 2.

Published in final edited form as: JAMA Neurol. 2013 Nov; 70(11): 1425–1428. doi: 10.1001/jamaneurol.2013.3185

PMCID:: PMC3973017

Abstract Article PDF–332K

Select item 334028816.

Human Mitochondrial DNA Helicase TWINKLE Is Both an Unwinding and Annealing Helicase

Doyel Sen, Divya Nandakumar, Guo-Qing Tang, Smita S. Patel

J Biol Chem. 2012 Apr 27; 287(18): 14545–14556. Published online 2012 Mar 1. doi: 10.1074/jbc.M111.309468

PMCID:: PMC3340288

Abstract Article PDF–2.5M

Select item 315832717.

Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia

Dario Ronchi, Elisa Fassone, Andreina Bordoni, Monica Sciacco, Valeria Lucchini, Alessio Di Fonzo, Mafalda Rizzuti, Irene Colombo, Laura Napoli, Patrizia Ciscato, Maurizio Moggio, Alessandra Cosi, Martina Collotta, Stefania Corti, Nereo Bresolin, Giacomo P. Comi

J Neurol Sci. 2011 Sep 15; 308(1-2): 173–176. doi: 10.1016/j.jns.2011.05.042

PMCID:: PMC3158327

Abstract Article

Select item 294329618.

Disease Variants of the Human Mitochondrial DNA Helicase Encoded by C10orf2 Differentially Alter Protein Stability, Nucleotide Hydrolysis, and Helicase Activity

Matthew J. Longley, Margaret M. Humble, Farida S. Sharief, William C. Copeland

J Biol Chem. 2010 Sep 24; 285(39): 29690–29702. Published online 2010 Jul 20. doi: 10.1074/jbc.M110.151795

PMCID:: PMC2943296

Abstract Article PDF–2.0M

Select item 287513019.

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

C. Fratter, G.S. Gorman, J.D. Stewart, M. Buddles, C. Smith, J. Evans, A. Seller, J. Poulton, M. Roberts, M.G. Hanna, S. Rahman, S.E. Omer, T. Klopstock, B. Schoser, C. Kornblum, B. Czermin, B. Lecky, E.L. Blakely, K. Craig, P.F. Chinnery, D.M. Turnbull, R. Horvath, R.W. Taylor

Neurology. 2010 May 18; 74(20): 1619–1626. doi: 10.1212/WNL.0b013e3181df099f