TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication

Mitochondria: In Sickness and in Health

Nunnari, J., & Suomalainen, A. (2012) · Cell · doi:10.1016/j.cell.2012.02.035 · Cited by 3,479

Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form

Schägger, H., & von JAGOW, G. (1991) · Analytical Biochemistry · doi:10.1016/0003-2697(91)90094-a · Cited by 2,267

Mitochondrial transcription factor A is necessary for mtDNA maintance and embryogenesis in mice

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Replication of animal mitochondrial DNA

Clayton, D. A. (1982) · Cell · doi:10.1016/0092-8674(82)90049-6 · Cited by 1,243

A Highly Efficient Escherichia coli-Based Chromosome Engineering System Adapted for Recombinogenic Targeting and Subcloning of BAC DNA

Lee, E.-C., Yu, D., de Velasco, J. M., Tessarollo, L., Swing, D. A., Court, D. L., Jenkins, N. A., & Copeland, N. G. (2001) · Genomics · doi:10.1006/geno.2000.6451 · Cited by 1,180

Mitochondrial transcription factor A regulates mtDNA copy number in mammals

Ekstrand, M. I. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh109 · Cited by 919

Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria

Spelbrink, J. N., Li, F.-Y., Tiranti, V., Nikali, K., Yuan, Q.-P., Tariq, M., Wanrooij, S., Garrido, N., Comi, G., Morandi, L., et al. (2001) · Nature Genetics · doi:10.1038/90058 · Cited by 882

DNA replication and transcription in mammalian mitochondria.

Falkenberg, M., Larsson, N., & Gustafsson, C. (2007) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.76.060305.152028 · Cited by 686

Super-resolution microscopy reveals that mammalian mitochondrial nucleoids have a uniform size and frequently contain a single copy of mtDNA

Kukat, C., Wurm, C. A., Spåhr, H., Falkenberg, M., Larsson, N., & Jakobs, S. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1109263108 · Cited by 591

Somatic Mitochondrial DNA Mutations in Mammalian Aging

Larsson, N. (2010) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-060408-093701 · Cited by 561

REC drives recombination to repair double-strand breaks in animal mtDNA

Klucnika, A., Mu, P., Jezek, J., McCormack, M., Di, Y., Bradshaw, C. R., & Ma, H. (2022) · The Journal of Cell Biology · doi:10.1083/jcb.202201137 · Cited by 14

Secondary coenzyme Q deficiency in neurological disorders

Guéguen, N., Baris, O. R., Lenaers, G., Reynier, P., & Spinazzi, M. (2021) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2021.01.017 · Cited by 14

Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive diseasePreprint

Pierce, S. B., Gülsüner, S., Stapleton, G. A., Walsh, T., Lee, M. K., Mandell, J. B., Morales, A., Klevit, R. E., King, M., & Rogers, R. C. (2016) · Molecular Case Studies · doi:10.1101/mcs.a001107 · Cited by 14

CLPP Depletion Causes Diplotene Arrest; Underlying Testis Mitochondrial Dysfunction Occurs with Accumulation of Perrault Proteins ERAL1, PEO1, and HARS2

Key, J., Gispert, S., Koornneef, L., Sleddens–Linkels, E., Kohli, A., Torres-Odio, S., Koepf, G., Amr, S., Reichlmeir, M., Harter, P. N., et al. (2022) · Cells · doi:10.3390/cells12010052 · Cited by 13

Mitochondrial aberrations and ophthalmic diseases

Abu‐Amero, K. K., Kondkar, A. A., & Chalam, K. V. (2016) · Journal of Translational Science · doi:10.15761/jts.1000167 · Cited by 13

The Mitochondrial Genome in Aging and Disease and the Future of Mitochondrial Therapeutics

Saravanan, S., Lewis, C. J., Dixit, B., O’Connor, M. S., Stolzing, A., & Boominathan, A. (2022) · Biomedicines · doi:10.3390/biomedicines10020490 · Cited by 13

Applying multilevel selection to understand cancer evolution and progression

Laplane, L., Lamoureux, A., Richker, H. I., Alcaraz, G. M., Fortunato, A., Shaffer, Z., Aktipis, A., Mischel, P. S., Plutynski, A., Townsend, J. P., et al. (2025) · PLoS Biology · doi:10.1371/journal.pbio.3003290 · Cited by 15

Mitochondrial cardiomyopathies: pathogenesis, diagnosis, and treatment

Maack, C., Dudek, J., Bertero, E., Tampakakis, E., & Vernon, H. J. (2025) · European Heart Journal · doi:10.1093/eurheartj/ehaf491 · Cited by 12

Structural and dynamic basis of DNA capture and translocation by mitochondrial Twinkle helicase

Li, Z., Kaur, P., Lo, C., Chopra, N., Smith, J., Wang, H., & Gao, Y. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac1089 · Cited by 12

Energizing Genetics and Epi-genetics: Role in the Regulation of Mitochondrial Function

Audano, M., Ferrari, A., Fiorino, E., Künzl, M., Caruso, D., Mitro, N., Crestani, M., & Fabiani, E. D. (2015) · Current Genomics · doi:10.2174/138920291506150106151119 · Cited by 11

Structural rearrangements in the mitochondrial genome of Drosophila melanogaster induced by elevated levels of the replicative DNA helicase

Ciesielski, G. L., Nadalutti, C. A., Oliveira, M. T., Jacobs, H. T., Griffith, J. D., & Kaguni, L. S. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky094 · Cited by 11

Analysis of Human Mitochondrial DNA Content by Southern Blotting and Nonradioactive Probe Hybridization

Wheeler, J. H., Young, C. K. J., & Young, M. J. (2019) · Current Protocols in Toxicology · doi:10.1002/cptx.75 · Cited by 11

A Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature

Wei, L., Hou, L., Ying, Y.-Q., & Luo, X.-P. (2022) · Pharmacogenomics and Personalized Medicine · doi:10.2147/pgpm.s341172 · Cited by 10

Mitochondrial Nucleoids: Superresolution microscopy analysis

Ježek, P., Špaček, T., Tauber, J. A., & Pavluch, V. (2018) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2018.10.012 · Cited by 10

Engineering Genetic Systems for Treating Mitochondrial Diseases

Jang, Y., Ahn, S. R., Shim, J.-Y., & Lim, K. (2021) · Pharmaceutics · doi:10.3390/pharmaceutics13060810 · Cited by 9

Association Between Sperm Mitochondrial DNA Copy Number and Nuclear DNA Methylation

Oluwayiose, O. A., Josyula, S., Houle, E., Marcho, C., Whitcomb, B. W., Rahil, T., Sites, C. K., & Pilsner, J. R. (2020) · Epigenomics · doi:10.2217/epi-2020-0253 · Cited by 9

Marek’s Disease Virus Infection Induced Mitochondria Changes in Chickens

Chu, Q., Ding, Y., Cai, W., Liu, L., Zhang, H., & Song, J. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20133150 · Cited by 9

Knockout of Mpv17‐Like Protein (M‐LPH) Gene in Human Hepatoma Cells Results in Impairment of mtDNA Integrity through Reduction of TFAM, OGG1, and LIG3 at the Protein Levels

Iida, R., Ueki, M., & Yasuda, T. (2018) · Oxidative Medicine and Cellular Longevity · doi:10.1155/2018/6956414 · Cited by 8

In vivo composition of the mitochondrial nucleoid in mice

García-Villegas, R., Odenthal, F., Giannoula, Y., Bonekamp, N. A., Kühl, I., Park, C. B., Spåhr, H., Motori, E., Levander, F., & Larsson, N. (2025) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2025.119955 · Cited by 8

A homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset perrault syndrome

Chang, X., Li, G., Fu, H., Guan, M., & Guo, T. (2024) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2024.05.041 · Cited by 7

Mitochondrial Membranes and Mitochondrial Genome: Interactions and Clinical Syndromes

Almannai, M., Salah, A., & El‐Hattab, A. W. (2022) · Membranes · doi:10.3390/membranes12060625 · Cited by 7

Bovine TWINKLE and mitochondrial ribosomal protein L43 genes are regulated by an evolutionary conserved bidirectional promoter

Meersseman, C., Lejard, V., Rebours, E., Boussaha, M., Maftah, A. A., Petit, D. P., & Rocha, D. (2013) · Gene · doi:10.1016/j.gene.2013.11.088 · Cited by 7

The Dictyostelium discoideum homologue of Twinkle, Twm1, is a mitochondrial DNA helicase, an active primase and promotes mitochondrial DNA replication

Harman, A., & Barth, C. (2018) · BMC Molecular Biology · doi:10.1186/s12867-018-0114-7 · Cited by 7

Novel subcellular localization of the DNA helicase Twinkle at the kinetochore complex during mitosis in neuronal-like progenitor cells

Uittenbogaard, M. N., & Chiaramello, A. (2015) · Histochemistry and Cell Biology · doi:10.1007/s00418-015-1388-1 · Cited by 6

Advances Towards Therapeutic Approaches for mtDNA Disease

Khatib, I. A., & Shutt, T. E. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-981-13-8367-0_12 · Cited by 6

TWNK gene pathogenic variant and Perrault syndrome

Li, H., Cao, C., & Lv, Y. (2025) · Gene · doi:10.1016/j.gene.2025.149667 · Cited by 5

Mitochondrial Inheritance Following Nuclear Transfer: From Cloned Animals to Patients with Mitochondrial Disease

Burgstaller, J. P., & Chiaratti, M. R. (2023) · Methods in molecular biology · doi:10.1007/978-1-0716-3064-8_4 · Cited by 5

Efficient Elimination of mtDNA from Mammalian Cells with 2′,3′-Dideoxycytidine

Kozhukhar, N., & ALEXEYEV, M. F. (2024) · DNA · doi:10.3390/dna4030013 · Cited by 5

Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families

Cao, Y., Zhang, X., Lan, L., Li, D., Li, J., Xie, L., Xiong, F., Yu, L., Wu, X., Wang, H., et al. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03540-7 · Cited by 5

POLRMT overexpression increases mtDNA transcription without affecting steady-state mRNA levels

Miranda, M., Mesaros, A., Scrima, N., Pérard, L., Kuznetsova, I., Purrio, M., Atanassov, I., Filipovska, A., Mourier, A., Larsson, N., et al. (2025) · Life Science Alliance · doi:10.26508/lsa.202302563 · Cited by 4

A Bacteriophage‐Derived Primase‐Helicase Orchestrates Plant Organellar DNA Replication

Morales‐Vázquez, C. M., Dagio‐Hernandez, M. A., Camacho‐Manriquez, L. D., Peralta-Castro, A., Raygoza, C. D., Solano‐Argüello, D., Mora-Garduño, J. D., González‐González, R., Herrera‐Ubaldo, H., Díaz‐Quezada, C., et al. (2025) · Physiologia Plantarum · doi:10.1111/ppl.70379 · Cited by 4

Human mitochondrial transcription and translation

Fontanesi, F., Tigano, M., Fu, Y., Sfeir, A. J., & Barrientos, A. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-819656-4.00002-4 · Cited by 5

Tissue specificity of energy metabolism in mitochondria

Moreno‐Loshuertos, R., & Fernández‐Silva, P. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-819621-2.00001-2 · Cited by 4

Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances

Somai, S., Aloh, C. H., King, D. E., & Copeland, W. C. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms262110275 · Cited by 3

Mitochondrial DNA depletion syndrome and its cardiac complication

Bao, S., Ye, J., Zhou, J., Chen, Z., Xu, Y., & Sun, C. (2025) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2025.1582219 · Cited by 3

Helicase Dysfunctions in Human Diseases

Chang, C.-W., Li, M., Xu, X., & Liu, Y. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-814685-9.00012-9 · Cited by 3

Investigating the relationship between ATP synthase and the TCA cycle by crosslinking mass spectrometry

Pañeda, L. P., Misic, J., Kadavá, T., Larsson, N., & Heck, A. J. R. (2026) · Nature Communications · doi:10.1038/s41467-026-74730-5 · Cited by 3

Revealing long-range heterogeneous organization of nucleoproteins with 6mA footprinting by ipdTrimming

Yang, W., Wang, X. Q. D., Wenger, A. M., Fan, W., Yu, J., Dou, Y., & Dou, Y. (2025) · Genome biology · doi:10.1186/s13059-025-03592-9 · Cited by 3

Single-molecule fluorescence reveals the DNA unwinding mechanism of mitochondrial helicase TWINKLE and its interplay with single-stranded DNA-binding proteins

Wang, H., Lee, Y.-Y., Chien, P.-J., Tsai, W.-A., Sun, P.-J., Wang, L., Wu, C.-C., & Fan, H. (2025) · Nucleic Acids Research · doi:10.1093/nar/gkaf803 · Cited by 2

Mitochondrial function is essential for humoral immunity by controlling flux of the TCA cycle, phosphatidic acid and mTOR activity in B cellsPreprint

Urbanczyk, S., Baris, O. R., Hofmann, J., Golombek, F., Castiglione, K., Meng, X., Bözec, A., Mougiakakos, D., Schulz, S. R., Schuh, W., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.01.14.426649 · Cited by 2

Clpp-Deletion Causes Azoospermia, with Meiosis-I Delay and Insufficient Biosynthesis of Spermatid Factors, Due to Mitochondrial Dysfunction with Accumulation of Perrault Proteins ERAL1, PEO1, and HARS2Preprint

Gispert, S., Key, J., Kohli, A., Torres-Odio, S., Koepf, G., Amr, S., Reichlmeir, M., Harter, P. N., West, A. P., Münch, C., et al. (2022) · Preprints.org · doi:10.20944/preprints202205.0033.v1 · Cited by 2

RNase H1 levels dramatically affect mitochondrial genome maintenance with little impact on nuclear R-loops in murine B cellsPreprint

Sakhuja, K., Hartono, S. R., Sanz, L. A., Ijiri, E., Darling, C. L., Dye, L., Iben, J., Chon, H., Cerritelli, S. M., Crouch, R. J., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.04.30.651504 · Cited by 2

Manipulating mitochondrial gene expression

Dahal, D., Cruz‐Zaragoza, L. D., & Rehling, P. (2025) · Biological Chemistry · doi:10.1515/hsz-2025-0170 · Cited by 1

Heart-Specific and Conditional Deletion of the Immt Gene Reveals Its Role in Regulating Mitochondrial Structure and Total Heart Metabolism

Kuwabara, Y., Keezer, C., Lin, S. J., Rajput, A., & Molkentin, J. D. (2026) · Cells · doi:10.3390/cells15060505 · Cited by 2

R-loops and D-loops: a delicate balance in genomic stability and instability

Qin, Z., Lu, M., Zhao, J., Hou, J., Guo, J., Wu, J., Wang, C., Zhu, X., & Ma, T. (2026) · Cell Communication and Signaling · doi:10.1186/s12964-026-03033-5 · Cited by 1

Coupled aggregation of mitochondrial single-strand DNA-binding protein tagged with Eos fluorescent protein visualizes synchronized activity of mitochondrial nucleoids

Olejár, T., Reguera, D. P., Alán, L., Dlasková, A., & Ježek, P. (2015) · Molecular Medicine Reports · doi:10.3892/mmr.2015.4085 · Cited by 1

Nuclear genetic disorders of mitochondrial DNA gene expression

Glasgow, R. I. C., Lim, A. Z., Nicholls, T. J. J., McFarland, R., Taylor, R. W., & Oláhová, M. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-819656-4.00015-2 · Cited by 1

Rice floury endosperm26 encoding a mitochondrial single-stranded DNA-binding protein is essential for RNA-splicing of mitochondrial genes and endosperm development

Teng, X., Wang, Y., Liu, L., Yang, H., Wu, M., Chen, X., Ren, Y., Wang, Y., Duan, E., Dong, H., et al. (2024) · Plant Science · doi:10.1016/j.plantsci.2024.112151 · Cited by 1

Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis

Ding, L., Deng, S., Zhang, P., Zhang, D., & Tian, Q. (2024) · Reproductive Biology and Endocrinology · doi:10.1186/s12958-024-01309-4 · Cited by 1

Mitochondrial Biology in Hepatobiliary Tumors: Changes of the Cellular Energy Factory

Zimmermann, A. (2016) · Springer eBooks · doi:10.1007/978-3-319-26587-2_171-1 · Cited by 1

Identification of muscle and adipose gene expression patterns in lean and obese pigs

Zhang, J., He, H., & Liu, A. F. (2019) · South African Journal of Animal Science · doi:10.4314/sajas.v49i1.9 · Cited by 1

Mitochondrial Biology in Hepatobiliary Tumors: Changes of the Cellular Energy Factory

Zimmermann, A. (2016) · Springer eBooks · doi:10.1007/978-3-319-26956-6_171 · Cited by 1

Mammalian Resilience Revealed by a Comparison of Human Diseases and Mouse Models Associated With DNA Helicase Deficiencies

Kohzaki, M. (2022) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2022.934042 · Cited by 1

ClpP-Deletion Causes Azoospermia, with Meiosis-I Delay and Insufficient Biosynthesis of Spermatid Factors, Due to Mitochondrial Dysfunction with Accumulation of Perrault Proteins ERAL1, PEO1, and HARS2Preprint

Gispert, S., Key, J., Kohli, A., Torres-Odio, S., Koepf, G., Amr, S., Reichlmeir, M., Harter, P. N., West, A. P., Münch, C., et al. (2022) · Preprints.org · doi:10.20944/preprints202204.0245.v1 · Cited by 1

Mitochondrial dysfunction and treatment strategies

Krishnan, S. (2016) · Figshare

Molecular and genetic basis of inherited optic neuropathies

Flannery, P. J. (2016)

Manifestations of Drug Toxicity on Mitochondria in the Nervous System

Prehn, J. H. M., & Llorente‐Folch, I. (2018) · Wiley eBooks · doi:10.1002/9781119329725.ch9

Molecular signature pathway of gene protein interaction in human mitochondrial DNA (mtDNA) metabolism linked disease

Bhattacharya, M., Senapati, D., Kar, A., Malick, R. C., Patra, B. C., & Das, B. K. (2018) · Indian Journal of Medical Specialities · doi:10.1016/j.injms.2018.05.001

In vivo and in vitro mechanistic characterization of a clinically relevant PolγA mutationPreprint

Silva-Pinheiro, P., Pardo-Hernández, C., Reyes, A., Tilokani, L., Mishra, A., Cerutti, R., Li, S., Ho, D. H., Valenzuela, S., Dogan, A. S., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.09.10.291369

Model Cells and Organisms in Mitochondrial Diseases

Stefanatos, R. K. A., Sanz, A., & Fernández‐Ayala, D. J. M. (2021) · Springer eBooks · doi:10.1007/978-3-030-70147-5_10

Increased mitochondrial transcription initiation does not promote oxidative phosphorylationPreprint

Miranda, M., Mesaros, A., Kuznetsova, I., Purrio, M., Pérard, L., Filipovska, A., Mourier, A., Larsson, N., & Kühl, I. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.01.11.575236

Skeletal Muscle Specific PolG Dysfunction Activates the Integrated Stress Response and Promotes a Cachexia like PhenotypePreprint

Bond, S. T., King, E. J., Walker, S., Yang, C., Liu, Y., Liu, K. H., Zhuang, A., Jurrjens, A. W., Fang, H., Formosa, L. E., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.06.02.597064

Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects

Gao, X., Ma, Y., Wang, W., Wang, G., Yang, K., Xu, J., Huang, S.-S., Wang, X., Hu, L.-M., Wang, X., et al. (2025) · Human Genetics · doi:10.1007/s00439-025-02774-6

The First Heterozygous TWNK Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases

Lopergolo, D., Berti, G., Gallus, G. N., Bianchi, S., Santorelli, F. M., Malandrini, A., & Stefano, N. D. (2025) · Biomolecules · doi:10.3390/biom15091337

Mitochondrial Dysfunction in Monogenic Developmental and Epileptic Encephalopathies

Minderhoud, C. A., Brilstra, E. H., Jansen, F. E., Braun, K. P. J., & van Hasselt, P. M. (2026) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2026.02.004

Patient-derived TWNK variants recapitulate multisystem Perrault syndrome pathology in a mouse model

Wang, W., Dong, X., Cao, C., Li, H.-B., & Lv, Y.-F. (2026) · Mitochondrion · doi:10.1016/j.mito.2026.102137

Mitochondrial DNA analysis in a cohort of stillbirths with brainstem and cardiac conduction system abnormalities

Lecca, M., Mele, N., Leonardi, P., Giulia Ottaviani, M., & Errichiello, E. (2026) · Mitochondrion · doi:10.1016/j.mito.2026.102152

Le co-activateur transcriptionnel CREB-binding protein (CBP) : un nouvel acteur de la fonction mitochondriale

Diouf, S. (2018) · theses.fr (ABES) · doi:10.70675/bd5b2b41za47dz43e0z98e2z0199f1adcad7

Mammalian mtDNA gene expression: Concepts learned from in vivo models.

Rubalcava-Gracia, D., & Larsson, N. (2026) · Biochimica et biophysica acta. Molecular cell research · doi:10.1016/j.bbamcr.2026.120158 · Cited by 2

Systematic Profiling and Functional Characterization of Alternative Splicing in C. elegans Olfactory LearningPreprint

Chen, M., Wu, M., Koterniak, B., Ge, M., Liang, J., Calarco, J. A., & Zhang, Y. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.10.731382

Molecular and structural basis for replication initiation and strand separation by human mitochondrial DNA polymerase γ

Sokolova, V., Buchel, G., Strock, S., Nayak, A. R., & Temiakov, D. (2026) · Nucleic Acids Research · doi:10.1093/nar/gkag925

A dedicated motif in human polymerase gamma enables DNA synthesis through replication roadblocksPreprint

Miguez-Amil, S., Grande-García, A., Plaza-G.A., I., Moreno‐Morcillo, M., Casajús-Pelegay, E., Areán-Ulloa, E., Chacón-Sánchez, C., Ciesielski, G. L., Ibarra, B., & Fernández-Leiro, R. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.09.27.754746

Mitochondrial DNA replication and genome stability: From mechanisms to therapeutic strategies

Falkenberg, M., & Gustafsson, C. M. (2026) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2026.120241

Reconstitution of a minimal mtDNA replisome in vitro

Korhonen, J. A., Pham, X. H., Pellegrini, M., & Falkenberg, M. (2004) · The EMBO Journal · doi:10.1038/sj.emboj.7600257 · Cited by 404

Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE

Jemt, E., Persson, Ö., Shi, Y., Mehmedovic, M., Uhler, J. P., Freyer, C., Gustafsson, C. M., & Samuelsson, T. (2015)

TWINKLE Has 5' −>3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein

Korhonen, J. A., Gaspari, M., & Falkenberg, M. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m306981200 · Cited by 298

TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease

Peter, B., & Falkenberg, M. (2020) · Genes · doi:10.3390/genes11040408 · Cited by 69

Human mitochondrial DNA helicase TWINKLE is both an unwinding and annealing helicase

Sen, D., Nandakumar, D., Tang, G.-Q., & Patel, S. S. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.309468 · Cited by 63