Blar i Bergen Open Research Archive på forfatter "Koivunen, Peppi"
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HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein
Kraatari-Tiri, Minna; Soikkonen, Leila; Myllykoski, Matti Aukusti; Jamshidi, Yalda; Karimiani, Ehsan G.; Komulainen-Ebrahim, Jonna; Kallankari, Hanna; Mignot, Cyril; Depienne, Christel; Keren, Boris; Nougues, Marie-Christine; Alsahlawi, Zahra; Romito, Antonio; Martini, Javier; Toosi, Mehran B.; Carroll, Christopher J.; Tripolszki, Kornelia; Bauer, Peter; Uusimaa, Johanna; Bertoli-Avella, Aida M.; Koivunen, Peppi; Rahikkala, Elisa (Journal article; Peer reviewed, 2022)HIDEA syndrome is caused by biallelic pathogenic variants in P4HTM. The phenotype is characterized by muscular and central hypotonia, hypoventilation including obstructive and central sleep apneas, intellectual disability, ... -
Structure of transmembrane prolyl 4-hydroxylase reveals unique organization of EF and dioxygenase domains
Myllykoski, Matti; Sutinen, Aleksi; Koski, M. Kristian; Kallio, Juha Pekka; Raasakka, Arne; Myllyharju, Johanna; Wierenga, Rik K.; Koivunen, Peppi (Journal article; Peer reviewed, 2021)Prolyl 4-hydroxylases (P4Hs) catalyze post-translational hydroxylation of peptidyl proline residues. In addition to collagen P4Hs and hypoxia-inducible factor P4Hs, a third P4H—the poorly characterized endoplasmic ...