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

por Peter, Bradley, Falkenberg, Maria
Publicado 2020

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

por Peter, Bradley, Farge, Geraldine, Pardo-Hernandez, Carlos, Tångefjord, Stefan, Falkenberg, Maria
Publicado 2019

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

por Peter, Bradley, Farge, Geraldine, Pardo-Hernandez, Carlos, Tångefjord, Stefan, Falkenberg, Maria
Publicado 2020

Ribonucleotides embedded in template DNA impair mitochondrial RNA polymerase progression

por Singh, Meenakshi, Posse, Viktor, Peter, Bradley, Falkenberg, Maria, Gustafsson, Claes M
Publicado 2022

Democratizing water monitoring: Implementation of a community-based qPCR monitoring program for recreational water hazards

por Rudko, Sydney P., Reimink, Ronald L., Peter, Bradley, White, Jay, Hanington, Patrick C.
Publicado 2020

A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL

por Al-Behadili, Ali, Uhler, Jay P, Berglund, Anna-Karin, Peter, Bradley, Doimo, Mara, Reyes, Aurelio, Wanrooij, Sjoerd, Zeviani, Massimo, Falkenberg, Maria
Publicado 2018

Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO

por Hedberg-Oldfors, Carola, Macao, Bertil, Basu, Swaraj, Lindberg, Christopher, Peter, Bradley, Erdinc, Direnis, Uhler, Jay P., Larsson, Erik, Falkenberg, Maria, Oldfors, Anders
Publicado 2020

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease

por Peter, Bradley, Waddington, Christie L, Oláhová, Monika, Sommerville, Ewen W, Hopton, Sila, Pyle, Angela, Champion, Michael, Ohlson, Monica, Siibak, Triinu, Chrzanowska-Lightowlers, Zofia M A, Taylor, Robert W, Falkenberg, Maria, Lightowlers, Robert N
Publicado 2018

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

por Siibak, Triinu, Clemente, Paula, Bratic, Ana, Bruhn, Helene, Kauppila, Timo E.S., Macao, Bertil, Rosenberger, Florian A., Lesko, Nicole, Wibom, Rolf, Naess, Karin, Nennesmo, Inger, Wedell, Anna, Peter, Bradley, Freyer, Christoph, Falkenberg, Maria, Wredenberg, Anna
Publicado 2017

DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion

por Silva-Pinheiro, Pedro, Pardo-Hernández, Carlos, Reyes, Aurelio, Tilokani, Lisa, Mishra, Anup, Cerutti, Raffaele, Li, Shuaifeng, Rozsivalova, Dieu-Hien, Valenzuela, Sebastian, Dogan, Sukru A, Peter, Bradley, Fernández-Silva, Patricio, Trifunovic, Aleksandra, Prudent, Julien, Minczuk, Michal, Bindoff, Laurence, Macao, Bertil, Zeviani, Massimo, Falkenberg, Maria, Viscomi, Carlo
Publicado 2021

Correction to ‘DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion’

por Silva-Pinheiro, Pedro, Pardo-Hernández, Carlos, Reyes, Aurelio, Tilokani, Lisa, Mishra, Anup, Cerutti, Raffaele, Li, Shuaifeng, Rozsivalova, Dieu-Hien, Valenzuela, Sebastian, Dogan, Sukru A, Peter, Bradley, Fernández-Silva, Patricio, Trifunovic, Aleksandra, Prudent, Julien, Minczuk, Michal, Bindoff, Laurence, Macao, Bertil, Zeviani, Massimo, Falkenberg, Maria, Viscomi, Carlo
Publicado 2021

POLRMT mutations impair mitochondrial transcription causing neurological disease

por Oláhová, Monika, Peter, Bradley, Szilagyi, Zsolt, Diaz-Maldonado, Hector, Singh, Meenakshi, Sommerville, Ewen W., Blakely, Emma L., Collier, Jack J., Hoberg, Emily, Stránecký, Viktor, Hartmannová, Hana, Bleyer, Anthony J., McBride, Kim L., Bowden, Sasigarn A., Korandová, Zuzana, Pecinová, Alena, Ropers, Hans-Hilger, Kahrizi, Kimia, Najmabadi, Hossein, Tarnopolsky, Mark A., Brady, Lauren I., Weaver, K. Nicole, Prada, Carlos E., Õunap, Katrin, Wojcik, Monica H., Pajusalu, Sander, Syeda, Safoora B., Pais, Lynn, Estrella, Elicia A., Bruels, Christine C., Kunkel, Louis M., Kang, Peter B., Bonnen, Penelope E., Mráček, Tomáš, Kmoch, Stanislav, Gorman, Gráinne S., Falkenberg, Maria, Gustafsson, Claes M., Taylor, Robert W.
Publicado 2021