Zobrazeno 1 - 2
of 2
pro vyhledávání: '"genetics [Mixed Function Oxygenases]"'
Autor:
Jonathan Baets, Adolfo López de Munain, Maria Grazia D'Angelo, Tobias Lindig, Marion Döbler-Neumann, Rebecca Schüle, Jennifer Reichbauer, Anne S. Söhn, Martine Debyser, Alexander Münchau, Tim W. Rattay, Stephan Züchner, Barbara Plecko, Tine Deconinck, Peter De Jonghe, Maria Teresa Bassi, Ludger Schöls, Ingeborg Krägeloh-Mann, Katrien Smets, Marc Janauschek, Kathrin N. Eckstein, Anne-Katrin Giese, Konstanze Hörtnagel, Bernd Wilken, Jan De Bleecker, Els Ortibus, Sarah Wiethoff, Aurora Pujol, Michaela Auer-Grumbach, Peter Bauer
Publikováno v:
Brain
Brain 142(6), 1561-1572 (2019). doi:10.1093/brain/awz102
Brain 142(6), 1561-1572 (2019). doi:10.1093/brain/awz102
The endoplasmic reticulum enzyme fatty acid 2-hydroxylase (FA2H) plays a major role in the formation of 2-hydroxy glycosphingolipids, main components of myelin. FA2H deficiency in mice leads to severe central demyelination and axon loss. In humans it
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d6c0ffce84188cdd05f2f64dd70fb49
https://europepmc.org/articles/PMC6536916/
https://europepmc.org/articles/PMC6536916/
Autor:
Montserrat Ruiz, Stephan Züchner, Anne S. Soehn, Tim W. Rattay, Aurora Pujol, David Monk, Konstanze Hörtnagel, Olaf Riess, Marion Döbler-Neumann, Peter Bauer, Stefanie Beck-Wödl, Karin Schäferhoff, Agatha Schlüter, Ludger Schöls, Rebecca Schüle
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Neurology 87(2), 186-191 (2016). doi:10.1212/WNL.0000000000002843
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Neurology 87(2), 186-191 (2016). doi:10.1212/WNL.0000000000002843
Objective: Identifying an intriguing mechanism for unmasking recessive hereditary spastic paraplegias. Method: Herein, we describe 4 novel homozygous FA2H mutations in 4 nonconsanguineous families detected by whole-exome sequencing or a targeted gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8cb1816590241a1d3d1d62e2ce7633a
http://hdl.handle.net/2445/126828
http://hdl.handle.net/2445/126828