SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS
Museer A. Lone, Sen Zeng, Florence Bourquin, Mengli Wang, Shunxiang Huang, Zhiqiang Lin, Beisha Tang, Ruxu Zhang, Thorsten Hornemann
Topics & Concepts
SphingolipidMutationHEK 293 cellsBiologyFasciculationMutantAmyotrophic lateral sclerosisHomeostasisCell biologyCancer researchInternal medicineGeneticsMedicineDiseaseGeneNeuroscienceAmyotrophic Lateral Sclerosis ResearchSphingolipid Metabolism and SignalingLysosomal Storage Disorders Research