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SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins

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 synthesis of sphingolipids (SLs), cause childhood-onset ALS. SPTLC1-ALS varia...

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Detalles Bibliográficos
Autores principales:	Lone, Museer A., Aaltonen, Mari J., Zidell, Aliza, Pedro, Helio F., Morales Saute, Jonas A., Mathew, Shalett, Mohassel, Payam, Bönnemann, Carsten G., Shoubridge, Eric A., Hornemann, Thorsten
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Clinical Investigation 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9479574/ https://www.ncbi.nlm.nih.gov/pubmed/35900868 http://dx.doi.org/10.1172/JCI161908

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