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

J Clin Invest. 2022-09; 
Museer A Lone, Mari J Aaltonen, Aliza Zidell, Helio F Pedro, Jonas A Morales Saute, Shalett Mathew, Payam Mohassel, Carsten G Bönnemann, Eric A Shoubridge, Thorsten Hornemann
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Proteins, Expression, Isolation and Analysis … SPTLC2 signals were normalized to the ACTIN signal. Mean ± SD, n=4 independent … UBB (Cell Signaling 3933), anti-beta-ACTIN (GenScript A00702), anti-TOMM40 (Proteintech 18409-… Get A Quote

摘要

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 variants map to a transmembrane domain that interacts with ORMDL proteins, negative regulators of SPT activity. We show that ORMDL binding to the holoenzyme complex is impaired in cells expressing pathogenic SPTLC1-ALS alleles, resulting in increased SL synthesis and a distinct lipid signature. C-terminal SPTLC1 variants cause peripheral hereditary sensory and autonomic neuropathy type 1 (HSAN1) due to the synthesis of 1-... More

关键词

ALS, Carbohydrate metabolism, Neuromuscular disease, Neuroscience