Navegação por Autor "Aaltonen, Mari J."
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SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
Lone, Museer A.; Aaltonen, Mari J.; Zidell , Aliza; Pedro, Helio F.; Saute, Jonas Alex Morales; Mathew, Shalett; Mohassel, Payam; Bönnemann, Carsten G.; Shoubridge, Eric A.; Hornemann, Thorsten (2022) [Artigo de periódico]Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons. Mutations in the SPTLC1 subunit of serine palmitoyltransferase (SPT), which catalyzes the first step in the de novo ...