Fredrik Sterky
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Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and
anemia
Carola Oldfors Hedberg, Sanhita Mitra, Antonio Molinaro, Kittichate Visuttijai, Linda Fogelstrand, Anders Oldfors, Fredrik H Sterky, Niklas Darin
European Journal of Human Genetics - 2023 -
Detection of SARS-CoV-2 antibodies in serum and dried blood spot samples of vaccinated individuals using a sensitive homogeneous proximity extension
assay.
Hongxing Zhao, Mengqi Wang, Phathutshedzo Muthelo, Liza Löf, Fredrik H Sterky, Radiosa Gallini, Nallani Vijay Kumar, Tor Monsen, Kenneth Nilsson, Mikael Åberg, Masood Kamali-Moghaddam, Ya-Fang Mei, Ulf Landegren
New biotechnology - 2022 -
Role of neurexin heparan sulfate in the molecular assembly of synapses - Expanding the neurexin
code?
Fredrik Noborn, Fredrik H Sterky
Febs Journal - 2022 -
CA10 regulates neurexin heparan sulfate addition via a direct binding in the secretory
pathway
Laia Montoliu-Gaya, Daniel Tietze, Debora Kaminski, E. Mirgorodskaya, Alesia A. Tietze, Fredrik H Sterky
Embo Reports - 2021 -
Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like
disease.
Kalliopi Sofou, Kolja Meier, Leslie E Sanderson, Debora Kaminski, Laia Montoliu-Gaya, Emma Samuelsson, Maria K. Blomqvist, Lotta Agholme, Jutta Gärtner, Chris Mühlhausen, Niklas Darin, Tahsin Stefan Barakat, Lars Schlotawa, Tjakko van Ham, Jorge Asin-Cayuela, Fredrik H Sterky
EMBO molecular medicine - 2021 -
Calsyntenin-3 interacts with both ?- and ?-neurexins in the regulation of excitatory synaptic innervation in specific Schaffer collateral
pathways
H. Kim, D. Kim, J. Kim, H. Y. Lee, D. Park, H. Kang, K. Matsuda, Fredrik H Sterky, M. Yuzaki, J. Y. Kim, S. Y. Choi, J. Ko, J. W. Um
Journal of Biological Chemistry - 2020 -
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy
metabolism.
Elizabeth Jennions, Carola Oldfors Hedberg, Anna-Karin Berglund, Gittan Kollberg, Carl-Johan Törnhage, Erik A Eklund, Anders Oldfors, Patrick Verloo, Arnaud V Vanlander, Linda De Meirleir, Sara Seneca, Fredrik H Sterky, Niklas Darin
Journal of inherited metabolic disease - 2019