FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

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 has been associated with phenotypes from the neur...

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Main Authors: Rattay, Tim W, Lindig, Tobias, Baets, Jonathan, Smets, Katrien, Deconinck, Tine, Söhn, Anne S, Hörtnagel, Konstanze, Eckstein, Kathrin N, Wiethoff, Sarah, Reichbauer, Jennifer, Döbler-Neumann, Marion, Krägeloh-Mann, Ingeborg, Auer-Grumbach, Michaela, Plecko, Barbara, Münchau, Alexander, Wilken, Bernd, Janauschek, Marc, Giese, Anne-Katrin, De Bleecker, Jan L, Ortibus, Els, Debyser, Martine, Lopez de Munain, Adolfo, Pujol, Aurora, Bassi, Maria Teresa, D’Angelo, Maria Grazia, De Jonghe, Peter, Züchner, Stephan, Bauer, Peter, Schöls, Ludger, Schüle, Rebecca
Format: Text
Language:English
Published: Oxford University Press 2019
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Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC6536916/
https://pubmed.ncbi.nlm.nih.gov/31135052
http://dx.doi.org/10.1093/brain/awz102
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https://pmc.ncbi.nlm.nih.gov/articles/PMC6536916/
https://pubmed.ncbi.nlm.nih.gov/31135052
http://dx.doi.org/10.1093/brain/awz102

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