Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Artina Metoska"'
Autor:
Hiroshi Hamada, Bruno Reversade, Artina Metoska, Fui Mee Ng, Jeffrey Hill, Patrick Cozzone, Nithya Baburajendran, Hülya Kayserili, Oz Pomp, Nathalie Escande-Beillard, Joyner Wong, Abigail Loh, Kohei Kanata, Sahar N. Saleem, Joanes Grandjean, Yui Hashimoto, E. Beillard, Umut Altunoglu, Hidetaka Shiratori, Maha S. Zaki
Publikováno v:
Neuron, 107, 82-94 e6
Neuron, 107(1), 82-94.e6. Cell Press
Neuron, 107, 1, pp. 82-94 e6
Neuron, 107(1), 82-94.e6. Cell Press
Neuron, 107, 1, pp. 82-94 e6
Patients lacking PYCR2, a mitochondrial enzyme that synthesizes proline, display postnatal degenerative microcephaly with hypomyelination. Here we report the crystal structure of the PYCR2 apo-enzyme and show that a novel germline p.Gly249Val mutatio
Autor:
Morten B. Thomsen, Tobias Speerschneider, Søren Grubb, Kirstine Calloe, Artina Metoska, Søren-Peter Olesen
Publikováno v:
The Journal of Physiology. 591:5923-5937
Key points • Previous studies have suggested that the K+ channel auxiliary subunit K+ channel-interacting protein 2 (KChIP2) serves as a regulator of cardiac remodelling leading to heart failure and increased risk of arrhythmias. • The results pr
Autor:
Tobias, Speerschneider, Søren, Grubb, Artina, Metoska, Søren-Peter, Olesen, Kirstine, Calloe, Morten B, Thomsen
Publikováno v:
The Journal of physiology. 591(23)
Abnormal ventricular repolarization in ion channelopathies and heart disease is a major cause of ventricular arrhythmias and sudden cardiac death. K(+) channel-interacting protein 2 (KChIP2) expression is significantly reduced in human heart failure