Blar i Bergen Open Research Archive på forfatter "Perez, Roberto Megias"
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Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations
Liang, Xiao; Kristiansen, Cecilie Katrin; Mostafavi, Sepideh; Vatne, Guro H.; Zantingh, Gina; Kianian, Atefeh; Tzoulis, Charalampos; Høyland, Lena Elise; Ziegler, Mathias; Perez, Roberto Megias; Furriol, Jessica; Zhang, Zhuoyuan; Balafkan, Novin; Hong, Yu; Siller, Richard; Sullivan, Gareth; Bindoff, Laurence (Journal article; Peer reviewed, 2020)Mutations in POLG disrupt mtDNA replication and cause devastating diseases often with neurological phenotypes. Defining disease mechanisms has been hampered by limited access to human tissues, particularly neurons. Using ... -
GADL1 is a multifunctional decarboxylase with tissue-specific roles in β-alanine and carnosine production
Mahootchi, Elaheh; Homaei, Selina Cannon; Kleppe, Rune; Winge, Ingeborg; Hegvik, Tor-Arne; Perez, Roberto Megias; Totland, Christian; Mogavero, Floriana; Baumann, Anne; Glennon, Jeffrey Colm; Miletic, Hrvoje; Kursula, Petri; Haavik, Jan (Journal article; Peer reviewed, 2020)Carnosine and related β-alanine–containing peptides are believed to be important antioxidants, pH buffers, and neuromodulators. However, their biosynthetic routes and therapeutic potential are still being debated. This ...