Title : A novel TSC1 frameshift mutation c.1550_1551del causes tuberous sclerosis complex by aberrant splicing and nonsense-mediated mRNA degradation (NMD) simultaneously in a Chinese family.

Pub. Date : 2020 Oct

PMID : 32735081






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 A translation inhibitor cycloheximide and small interfering RNA of UPF1 (siRNA-UPF1) increased mRNA or protein expression of TSC1 significantly in cells transfected with the mutant plasmids. Cycloheximide UPF1 RNA helicase and ATPase Homo sapiens