PubMed (GeneRIF) for id: 56652

Year	Number of Results
2002	1
2003	2
2004	1
2005	3
2006	1
2007	8
2008	5
2009	6
2010	6
2011	3
2012	5
2013	3
2014	4
2015	2
2016	7
2017	2
2018	1
2019	4
2020	5
2021	1
2022	2
2023	1
2024	0

1

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

Johnson LC, Singh A, Patel SS. Johnson LC, et al. J Biol Chem. 2023 Jan;299(1):102797. doi: 10.1016/j.jbc.2022.102797. Epub 2022 Dec 14. J Biol Chem. 2023. PMID: 36528058 Free PMC article.

2

Structural insight and characterization of human Twinkle helicase in mitochondrial disease.

Riccio AA, Bouvette J, Perera L, Longley MJ, Krahn JM, Williams JG, Dutcher R, Borgnia MJ, Copeland WC. Riccio AA, et al. Proc Natl Acad Sci U S A. 2022 Aug 9;119(32):e2207459119. doi: 10.1073/pnas.2207459119. Epub 2022 Aug 1. Proc Natl Acad Sci U S A. 2022. PMID: 35914129 Free PMC article.

3

Stimulation of Variant Forms of the Mitochondrial DNA Helicase Twinkle by the Mitochondrial Single-Stranded DNA-Binding Protein.

Rodrigues APC, Oliveira MT. Rodrigues APC, et al. Methods Mol Biol. 2021;2281:313-322. doi: 10.1007/978-1-0716-1290-3_20. Methods Mol Biol. 2021. PMID: 33847968

4

Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.

Kierdaszuk B, Kaliszewska M, Rusecka J, Kosińska J, Bartnik E, Tońska K, Kamińska AM, Kostera-Pruszczyk A. Kierdaszuk B, et al. Genes (Basel). 2020 Dec 31;12(1):54. doi: 10.3390/genes12010054. Genes (Basel). 2020. PMID: 33396418 Free PMC article.

5

Consequences of compromised mitochondrial genome integrity.

Gustafson MA, Sullivan ED, Copeland WC. Gustafson MA, et al. DNA Repair (Amst). 2020 Sep;93:102916. doi: 10.1016/j.dnarep.2020.102916. DNA Repair (Amst). 2020. PMID: 33087282 Free PMC article. Review.

6

Characteristics of globus pallidus internus local field potentials in generalized dystonia patients with TWNK mutation.

Zhu GY, Zhang RL, Chen YC, Liu YY, Liu DF, Wang SY, Jiang Y, Zhang JG. Zhu GY, et al. Clin Neurophysiol. 2020 Jul;131(7):1453-1461. doi: 10.1016/j.clinph.2020.03.023. Epub 2020 Apr 10. Clin Neurophysiol. 2020. PMID: 32387964

7

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

Kaur P, Longley MJ, Pan H, Wang W, Countryman P, Wang H, Copeland WC. Kaur P, et al. J Biol Chem. 2020 Apr 24;295(17):5564-5576. doi: 10.1074/jbc.RA120.012795. Epub 2020 Mar 25. J Biol Chem. 2020. PMID: 32213598 Free PMC article.

8

Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.

Rodríguez-López C, García-Cárdaba LM, Blázquez A, Serrano-Lorenzo P, Gutiérrez-Gutiérrez G, San Millán-Tejado B, Muelas N, Hernández-Laín A, Vílchez JJ, Gutiérrez-Rivas E, Arenas J, Martín MA, Domínguez-González C. Rodríguez-López C, et al. J Med Genet. 2020 Sep;57(9):643-646. doi: 10.1136/jmedgenet-2019-106649. Epub 2020 Mar 11. J Med Genet. 2020. PMID: 32161153

9

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

Domínguez-Ruiz M, García-Martínez A, Corral-Juan M, Pérez-Álvarez ÁI, Plasencia AM, Villamar M, Moreno-Pelayo MA, Matilla-Dueñas A, Menéndez-González M, Del Castillo I. Domínguez-Ruiz M, et al. J Transl Med. 2019 Aug 28;17(1):290. doi: 10.1186/s12967-019-2041-x. J Transl Med. 2019. PMID: 31455392 Free PMC article.

10

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.

Li X, Li L, Sun Y, Lv F, Zhang G, Liu W, Zhang M, Jiang H, Liu S. Li X, et al. BMC Med Genet. 2019 Aug 27;20(1):146. doi: 10.1186/s12881-019-0875-y. BMC Med Genet. 2019. PMID: 31455269 Free PMC article.

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