Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Zuzana Korandova"'
Autor:
Zora Novakova, Mirko Milosevic, Zsofia Kutil, Marketa Ondrakova, Barbora Havlinova, Petr Kasparek, Cristian Sandoval-Acuña, Zuzana Korandova, Jaroslav Truksa, Marek Vrbacky, Jakub Rohlena, Cyril Barinka
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-17 (2022)
Abstract In humans, disruptions in the heme biosynthetic pathway are associated with various types of porphyrias, including variegate porphyria that results from the decreased activity of protoporphyrinogen oxidase IX (PPO; E.C.1.3.3.4), the enzyme c
Externí odkaz:
https://doaj.org/article/c8c3edc54eb849c18d405c9c691a81f8
Autor:
Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville, Emma L. Blakely, Jack J. Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J. Bleyer, Kim L. McBride, Sasigarn A. Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A. Tarnopolsky, Lauren I. Brady, K. Nicole Weaver, Carlos E. Prada, Katrin Õunap, Monica H. Wojcik, Sander Pajusalu, Safoora B. Syeda, Lynn Pais, Elicia A. Estrella, Christine C. Bruels, Louis M. Kunkel, Peter B. Kang, Penelope E. Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S. Gorman, Maria Falkenberg, Claes M. Gustafsson, Robert W. Taylor
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
POLRMT is key for transcription of the mitochondrial genome, yet has not been implicated in mitochondrial disease to date. Here, the authors identify mutations in POLRMT in individuals with mitochondrial disease-related phenotypes and characterise un
Externí odkaz:
https://doaj.org/article/35895711cd76476484b7067a5177046a